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          "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Steps in the diagnosis of hair shaft disorders&#46;</p> <p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Adapted from Mirmirani et al&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">The hair shaft is composed of a cortex&#44; a protective cuticle&#44; and&#44; in the case of terminal hairs&#44; an inner medulla &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>A&#41;&#46; This structure confers unique properties in terms of strength&#44; flexibility&#44; and resistance to the environment&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Hair shaft disorders are induced by environmental factors or genetic mutations&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> Patients&#44; or their parents&#44; typically consult about changes to appearance or texture&#44; increased fragility&#44; and poor growth&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> This review describes key features for recognizing the most common hair shaft disorders and evaluates triggers&#44; prognosis&#44; and current treatments&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Targeted history taking is important when dealing with hair complaints&#46; Examples of questions are &#8220;When did the problem begin&#63;&#8221; &#8220;Was it present at birth or did it begin later&#63;&#8221; &#8220;Have you noticed any changes to teeth or nails&#63;&#8221; &#8220;Do any of your relatives have similar findings&#63;&#8221; and &#8220;How do you look after your hair&#47;What cosmetic products do you use&#63;&#8221; It is also important to ask about frequency of washing&#44; styling techniques&#44; and use of hair gels&#44; permanent straighteners&#44; and hair dryers or curling tongs&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">When examining the hair it is important to<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a>&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">&#8226;</span><p id="par0025" class="elsevierStylePara elsevierViewall">Assess its overall appearance&#44; including luster&#44; curl&#44; and color&#46;</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">&#8226;</span><p id="par0030" class="elsevierStylePara elsevierViewall">Determine whether the abnormality is focal or diffuse&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">&#8226;</span><p id="par0035" class="elsevierStylePara elsevierViewall">Perform a pull test &#40;Sabouraud sign&#41;&#44; which consists of grasping tufts of 20 to 60 hairs between the index finger and thumb and gently pulling on these in different areas of the scalp&#46; The test is positive when more than 10&#37; of the hairs come out&#46;</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">&#8226;</span><p id="par0040" class="elsevierStylePara elsevierViewall">Perform a tug test&#44; which consists of holding a tuft of hair between the fingers several centimeters from the root and tugging it to detect the presence of fragile areas&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">&#8226;</span><p id="par0045" class="elsevierStylePara elsevierViewall">Examine the scalp&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">&#8226;</span><p id="par0050" class="elsevierStylePara elsevierViewall">Use noninvasive tests such as photography and trichoscopy to complement the physical findings&#46;</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">&#8226;</span><p id="par0055" class="elsevierStylePara elsevierViewall">In selected cases&#44; use semi-invasive tests such as trichogram analysis&#44; optical microscopy&#44; and electron microscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">&#8226;</span><p id="par0060" class="elsevierStylePara elsevierViewall">Determine the need for a scalp biopsy where appropriate&#46;</p></li></ul></p><p id="par0065" class="elsevierStylePara elsevierViewall">Hair shaft disorders can be difficult to classify because of overlapping clinical findings&#46; One way of classifying them is according to the presence or absence of hair shaft fragility &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> A thorough history combined with meticulous examination of the hair and additional techniques such as trichoscopy and optical or electron microscopy should result in a correct diagnosis &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="tbl0005"></elsevierMultimedia></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Hair Shaft Disorders Characterized by Hair Fragility</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Monilethrix</span><p id="par0070" class="elsevierStylePara elsevierViewall">Monilethrix is characterized by regularly spaced hair shaft constrictions &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#46; Clinically&#44; the hair tends to be normal at birth&#44; but after a few months it becomes dull&#44; short&#44; and fragile&#59; this results in hypotrichosis&#44; which predominantly affects the occipital region of the scalp&#44; which is more prone to friction &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>A&#41;&#46; Patients with monilethrix usually have pronounced follicular hyperkeratosis on the scalp&#46; This can be focal &#40;with predominant occipital involvement&#41; or diffuse&#46; Marked follicular hyperkeratosis may also be seen in patients with keratosis follicularis spinulosa decalvans &#40;Siemens syndrome&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Monilethrix can also affect the eyebrows &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>B&#41;&#44; eyelashes&#44; and body hair&#46; Patients may also show nail changes such as koilonychia&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#8211;10</span></a></p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0075" class="elsevierStylePara elsevierViewall">Monilethrix is inherited in an autosomal dominant pattern&#44; with high penetrance and variable expressivity&#46; Mutations in the <span class="elsevierStyleItalic">KRT81</span>&#44; <span class="elsevierStyleItalic">KRT83</span>&#44; and <span class="elsevierStyleItalic">KRT86</span> genes&#44; which code for the keratins Hb1&#44; Hb3&#44; and Hb6&#44; cause abnormal keratinization of the hair shaft cortex&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#44;8&#44;11&#44;12</span></a> Monilethrix also has an autosomal recessive form caused by mutations in <span class="elsevierStyleItalic">DSG4</span>&#44; which codes for desmoglein 4&#46; These mutations result in alterations to plakoglobin and desmosomes in the hair shaft&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> Monilethrix has also been linked to keratosis pilaris&#44; hereditary koilonychia&#44; and Holt-Oram syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Trichoscopic examination shows clear narrowing of the hair shaft &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>C&#41;&#46; Other possible findings include erythema&#44; perifollicular hyperkeratosis&#44; and even follicular papules&#46; The hair shafts have a beaded appearance formed by nodes&#44; which correspond to areas with a normal diameter&#44; and regularly spaced&#44; unmedullated constrictions &#40;internodes&#41; &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>D&#41;&#44; which is where breakage tends to occur&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#44;13&#8211;16</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">The clinical course of monilethrix is variable&#46; In most cases&#44; the condition lasts for life&#44; although partial and complete remissions have been reported in the summer and in association with pregnancy&#44; oral contraceptive use&#44; and older age&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a> Variable responses have been described for treatment with topical and oral retinoids&#44; topical minoxidil 2&#37; and 5&#37;&#44; oral minoxidil&#44; and acetylcysteine&#46; There have been reports of recurrence on discontinuation of oral retinoids&#46;<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">18&#8211;20</span></a></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Pseudomonilethrix</span><p id="par0090" class="elsevierStylePara elsevierViewall">Pseudomonilethrix presents with areas of diffuse or focal hair loss&#46; It is characterized by short&#44; beaded hairs that break once they have reached a few millimeters in length&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It occurs at older ages than monilethrix&#46; Unlike monilethrix&#44; it does not show follicular hyperkeratosis and the hair shaft presents irregularly spaced swellings rather than constrictions&#46; In this case&#44; the internodes have the diameter of a normal hair shaft &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>C&#41;&#46; Microscopic examination shows flat&#44; indented swellings&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">Camacho et al&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> proposed the following classification system for pseudomonilethrix&#58;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Bentley-Phillips Familial Pseudomonilethrix &#40;Type I&#41;</span><p id="par0100" class="elsevierStylePara elsevierViewall">Bentley-Phillips familial pseudomonilethrix is inherited as an autosomal dominant disorder with variable penetrance&#59; it was described by Bentley-Phillips and Bayles in 1973&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">22</span></a> It only affects hair on the scalp and can give rise to longitudinal fractures&#46; Onset is prepubertal&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Acquired Pseudomonilethrix in Hair Shaft Disorders &#40;Type II&#41;</span><p id="par0105" class="elsevierStylePara elsevierViewall">Acquired pseudomonilethrix is observed in certain hair shaft disorders with increased hair shaft fragility&#44; such as monilethrix&#44; pili torti&#44; trichorrhexis nodosa&#44; woolly hair&#44; bubble hair&#44; acquired kinking&#44; and acrodermatitis enteropathica&#46;<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">23</span></a> It can manifest as androgenetic alopecia or trichotillomania&#46; Styling and brushing can aggravate the condition&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Iatrogenic Pseudomonilethrix &#40;Type III&#41;</span><p id="par0110" class="elsevierStylePara elsevierViewall">Iatrogenic pseudomonilethrix is seen in hair shaft disorders characterized by hair fragility and individuals with fine&#44; light-colored hair&#59; it is caused by trauma to the hair during the preparation of trichograms &#40;eg&#44; compression by Pean forceps while traction is applied or pressing of the hairs between glass slides&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0120"><span class="elsevierStyleSup">24&#44;25</span></a></p><p id="par0115" class="elsevierStylePara elsevierViewall">As iatrogenic pseudomonilethrix is a laboratory artifact it does not need treatment&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> The use of ultrasound gel as an immersion fluid can also give the impression of flattened hair shafts on trichoscopy&#46; A similar effect is produced by hair gel and patients should therefore be advised not to use products of this type before trichoscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a></p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Pili Torti</span><p id="par0120" class="elsevierStylePara elsevierViewall">Pili torti are flattened hair shafts twisted at regular or irregular intervals around their axis at angles of 90&#176;&#44; 180&#176;&#44; or even 360&#176; &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>D&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> It has been suggested that cell vacuolation and irregularities in the thickness of the outer root sheath might affect the inner sheath&#44; causing the hair to twist around its axis&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> Pili torti can affect the head and other hair-bearing areas of the body&#44; including eyebrows&#44; eyelashes&#44; underarm hair&#44; and pubic hair&#46; Hair becomes more fragile&#44; leading to breakages and focal or diffuse hypotrichosis&#46; Pili torti tends to cause longitudinal splitting &#40;trichoptilosis&#41;&#46; Physical examination shows short dry hair that acquires a sequin-like appearance upon light reflection as the angles in the hair mean that only some stretches reflect the light&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a></p><p id="par0125" class="elsevierStylePara elsevierViewall">Congenital pili torti has been linked to mutations in <span class="elsevierStyleItalic">BSC1L</span>&#44; <span class="elsevierStyleItalic">ST14</span>&#44; and <span class="elsevierStyleItalic">CDH3</span>&#46; Pili torti can be inherited in an autosomal dominant or recessive pattern and can appear in isolation or in association with other diseases&#44; such as type 2 congenital pachyonychia and Bj&#246;rnstad syndrome&#44; Beare syndrome&#44; Bazex syndrome&#44; Menkes syndrome&#44; and Crandall syndrome&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;17</span></a> It can also occur in isolation in people with fine&#44; blond hair&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> It sometimes improves after puberty&#44; but can last for life&#46;</p><p id="par0130" class="elsevierStylePara elsevierViewall">Acquired pili torti is rare and has been linked to nutritional deficiencies&#44; the use of certain drugs such as oral retinoids and erlotinib&#44; and graft-versus-host disease&#46;<a class="elsevierStyleCrossRefs" href="#bib0130"><span class="elsevierStyleSup">26&#44;27</span></a> Ferrari et al&#46;<a class="elsevierStyleCrossRef" href="#bib0140"><span class="elsevierStyleSup">28</span></a> recently observed pili torti in the trichoscopic examination of a patient with frontal fibrosing alopecia and suggested that it might be a sign of fibrosis and a predictor of poor response to intralesional corticosteroids&#46;</p><p id="par0135" class="elsevierStylePara elsevierViewall">There are currently no effective treatments for pili torti&#46; Physical and chemical trauma should be avoided&#46;</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Menkes Syndrome &#40;Kinky Hair&#41;</span><p id="par0140" class="elsevierStylePara elsevierViewall">Menkes syndrome is a rare neurodegenerative disease caused by abnormal copper metabolism&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a> It was described by the pediatric neurologist John Menkes in 1962&#46;<a class="elsevierStyleCrossRef" href="#bib0150"><span class="elsevierStyleSup">30</span></a> It is an X-linked recessive disorder with an estimated incidence of 1 case per 300&#8239;000 live births in Europe&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a> The causative gene&#44; <span class="elsevierStyleItalic">ATP7A</span>&#44; is located on chromosome X &#40;Xq21&#46;1&#41;&#44; 4&#44;9 &#40;9q31-q32&#41;&#44; 14&#44; and 18 &#40;18&#46;26&#46;0&#160;cM&#41; and encodes a transmembrane protein &#40;ATP7A&#41; that controls copper transport&#46; Defective intestinal absorption of copper results in decreased levels of copper and ceruloplasmin in plasma and organs such as the brain&#44; liver&#44; bones&#44; hair&#44; and skin&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Other pathogenic variants cause milder manifestations such as occipital horn syndrome and motor neuropathy&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a></p><p id="par0145" class="elsevierStylePara elsevierViewall">Children with Menkes syndrome typically show normal development up to 2 to 3 months of age&#44; but then progressively show low weight&#44; delayed psychomotor development&#44; hypothermia&#44; hypotonia&#44; and seizures&#46; Typical findings are pudgy cheeks&#44; a pronounced Cupid&#39;s bow on the upper lip&#44; and horizontal eyebrows&#44; conferring a &#8220;partridge-like&#8221; facies &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>A&#41;&#46; Additional findings are brittle hair&#44; lax skin&#44; joint hypermobility&#44; inguinal hernias&#44; and bladder and urethral diverticula&#46; Milder forms of Menkes syndrome exist but their diagnosis can be delayed as they show very few neurological manifestations&#46; There have been reports of Menkes syndrome presenting with subdural hematomas&#44; cervical spine defects&#44; rib fractures&#44; and irregularities in the metaphysis of long bones&#59; these manifestations were initially confused with signs of child abuse&#46;<a class="elsevierStyleCrossRef" href="#bib0155"><span class="elsevierStyleSup">31</span></a></p><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0150" class="elsevierStylePara elsevierViewall">Trichoscopic examination shows variations in hair shaft diameter&#44; flattening and irregular twists &#40;atypical pili torti&#41;&#44; monilethrix&#44; and&#47;or trichorrhexis nodosa&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> These findings are observed in greater detail by optical or electron microscopy &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>B&#41;&#46;</p><p id="par0155" class="elsevierStylePara elsevierViewall">The diagnosis of Menkes syndrome is based on clinical findings and measurement of serum copper and ceruloplasmin levels&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a></p><p id="par0160" class="elsevierStylePara elsevierViewall">The natural disease course involves progressive loss of neurological functions&#44; causing death in the first years of life&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a> Early diagnosis is critical&#44; as administration of subcutaneous copper-histidine can improve neurological prognosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;29</span></a></p></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Netherton Syndrome &#40;Trichorrhexis Invaginata&#41;</span><p id="par0165" class="elsevierStylePara elsevierViewall">Netherton syndrome is a congenital autosomal recessive keratinization disorder of the skin&#44; hair&#44; and immune system&#46;<a class="elsevierStyleCrossRef" href="#bib0160"><span class="elsevierStyleSup">32</span></a> It was described by Comel &#40;1949&#41; and Netherton &#40;1958&#41;&#46; It is characterized by a triad of ichthyosis &#40;circumflex linear ichthyosis or other types of congenital ichthyosis&#41;&#44; hair shaft alterations&#44; and signs of atopy &#40;elevated immunoglobulin E&#44; hypereosinophilia&#44; eczema&#44; rhinitis&#44; food allergies&#44; and asthma&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0165"><span class="elsevierStyleSup">33&#44;34</span></a> Recurrent bacterial infections are common&#46; Other findings include low weight&#44; enteropathy&#44; kidney failure&#44; and intellectual disability&#46;<a class="elsevierStyleCrossRef" href="#bib0170"><span class="elsevierStyleSup">34</span></a> The estimated incidence of Netherton syndrome is 1 case per 100&#8239;000 to 200&#8239;000 live births&#46;<a class="elsevierStyleCrossRef" href="#bib0160"><span class="elsevierStyleSup">32</span></a> Mutations in the <span class="elsevierStyleItalic">SPINK5</span> gene &#40;chromosome 5q32&#41; cause alterations in the LEKTI protein&#44; leading to overexpression of 3 types of kallikrein&#58; KLK5&#44; KLK7&#44; and KLK14&#46;<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6&#44;34</span></a></p><p id="par0170" class="elsevierStylePara elsevierViewall">Patients with Netherton syndrome have short&#44; lusterless&#44; brittle hair&#46; Trichorrhexis invaginata&#44; or bamboo hair &#40;hair with areas of invagination&#41;&#44; is considered a specific finding &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>E&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0175"><span class="elsevierStyleSup">35</span></a> Low-magnification trichoscopy shows multiple&#44; irregularly spaced&#44; swellings along the hair shaft&#46; Higher-magnification images show invagination of the distal hair shaft into the proximal part&#44; forming a pathognomonic &#8220;ball in cup&#8221; appearance&#46; When the hair breaks at the distal end&#44; the proximal part acquires a golf-tee appearance&#46; According to Rudnicka et al&#46;&#44;<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">14&#44;16</span></a> these trichoscopic findings are more easily observed in eyebrows&#44; as these have a 10-fold higher density of bamboo hair than the scalp&#46; Pili torti and trichorrhexis nodosa may also be present&#44; but they are not characteristic and can improve with time and even resolve completely&#46;<a class="elsevierStyleCrossRef" href="#bib0180"><span class="elsevierStyleSup">36</span></a></p><p id="par0175" class="elsevierStylePara elsevierViewall">A recent case-control study of 8 patients with Netherton syndrome reported a band-like pattern under polarized light microscopy that was more common than the pathognomonic invaginata trichorrhexis&#46;<a class="elsevierStyleCrossRef" href="#bib0165"><span class="elsevierStyleSup">33</span></a></p><p id="par0180" class="elsevierStylePara elsevierViewall">There are no specific treatments for Netherton syndrome&#59; prognosis is poor and mortality is high during the first years of life due to water loss&#44; hypernatremic dehydration&#44; and bacterial infections&#46;<a class="elsevierStyleCrossRefs" href="#bib0160"><span class="elsevierStyleSup">32&#44;34</span></a> Treatments are aimed at improving skin manifestations and include oral corticosteroids&#44; retinoids&#44; phototherapy&#44; topical calcineurin inhibitors&#44; and lactate lotions&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a> New targeted therapies such as dupilumab that are being used in atopic dermatitis might be useful in Netherton syndrome&#44; but more evidence is needed before they can be recommended&#46;<a class="elsevierStyleCrossRefs" href="#bib0170"><span class="elsevierStyleSup">34&#44;37</span></a></p></span><span id="sec0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Trichothiodystrophy</span><p id="par0185" class="elsevierStylePara elsevierViewall">Trichothiodystrophy &#40;TTD&#41; comprises a heterogeneous group of diseases &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The main findings are hair abnormalities&#44; microdolicocephaly&#44; delayed psychomotor development&#44; ichthyosis&#44; signs of early aging&#44; and photosensitivity&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;38</span></a> Nail abnormalities such as onychodystrophy&#44; koilonychia&#44; furrows&#44; onychogryphosis&#44; onychoschizia&#44; yellowish discoloration&#44; and unguis inflexus &#40;longitudinal curvature of nails&#41; are common&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a> Trichothiodystrophy is inherited in an autosomal recessive pattern&#46; Four genes have been described&#58; <span class="elsevierStyleItalic">XPD</span>&#44; <span class="elsevierStyleItalic">XPB</span>&#44; <span class="elsevierStyleItalic">p8&#47;TTDA</span>&#44; and <span class="elsevierStyleItalic">TTDN1</span>&#46; The first 3 have a role in DNA nucleotide transcription&#44; repair&#44; and cleavage&#46; Unlike xeroderma pigmentosum&#44; however&#44; trichothiodystrophy is not associated with a greater predisposition to cancer&#46;<a class="elsevierStyleCrossRefs" href="#bib0190"><span class="elsevierStyleSup">38&#8211;40</span></a> Clinical examination shows lusterless&#44; fragile hair&#44; hypotrichosis&#44; and alopecia&#46; These findings are also seen in the eyebrows and eyelashes&#46; Trichothiodystrophy should be considered in the differential diagnosis when assessing a patient with congenital alopecia&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a></p><elsevierMultimedia ident="tbl0010"></elsevierMultimedia><p id="par0190" class="elsevierStylePara elsevierViewall">Hair shaft alterations must be present for a diagnosis of trichothiodystrophy to be established&#46; Samples must be taken from different areas of the scalp and examined by optical or electron microscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a> Findings include transverse fractures &#40;trichoschisis&#41;&#44; irregular hair shaft diameters and surfaces&#44; and other features similar to those observed in trichorrhexis nodosa or pili torti&#46; Polarized light microscopy shows a characteristic tiger tail appearance consisting of alternating light and dark bands &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>F&#41; &#40;<a class="elsevierStyleCrossRef" href="#fig0025">Fig&#46; 5</a>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0190"><span class="elsevierStyleSup">38</span></a> More recently described trichoscopic findings include glomerular hairs&#44; which are kinked hairs with breakages at the level of the infundibulum&#46;<a class="elsevierStyleCrossRef" href="#bib0205"><span class="elsevierStyleSup">41</span></a> The tiger tail sign can also be visualized without the need for microscopic examination using polarized transilluminating dermoscopy with two dermoscopes and a mobile telephone or a dermoscope and a mirror&#46;<a class="elsevierStyleCrossRef" href="#bib0210"><span class="elsevierStyleSup">42</span></a></p><elsevierMultimedia ident="fig0025"></elsevierMultimedia><p id="par0195" class="elsevierStylePara elsevierViewall">There are no specific treatments for the hair alterations associated with trichothiodystrophy&#44; although avoidance of local trauma and administration of minoxidil 2&#37; or oral cystine supplements have shown beneficial effects&#46; Oral biotin has not proven effective in this setting&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a></p></span><span id="sec0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Trichorrhexis Nodosa</span><p id="par0200" class="elsevierStylePara elsevierViewall">Trichorrhexis nodosa is a defect in which nodes along the hair shaft create weak points that result in easily broken hair&#46; It is clinically characterized by fine&#44; sparse hair&#46; Trichoscopy with fluid immersion shows thickened nodes&#8212;sometimes accompanied by signs of breakage&#8212;along the shaft&#46; Trichoscopy without fluid immersion shows small whitish areas that correspond to the breakage areas&#46; Higher magnification will reveal numerous short fibers within the node&#44; giving the appearance of the ends of two brushes facing each other &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>G&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">8&#44;14</span></a> Sharp angles may also be seen&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a> These findings can be visualized in greater detail by optical or electron microscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a></p><p id="par0205" class="elsevierStylePara elsevierViewall">There are 2 types of trichorrhexis nodosa&#46;</p><span id="sec0065" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Distal Trichorrhexis Nodosa</span><p id="par0210" class="elsevierStylePara elsevierViewall">Distal trichorrhexis nodosa is an acquired condition caused by exposure to external physical and chemical agents&#46; It affects individuals with long hair and involvement is diffuse&#46; It is more common in young women and is associated with excessive brushing and cosmetic treatments&#46; Clinical findings include small whitish nodes at the distal end of the hair shafts&#44; which tend to fracture longitudinally&#44; causing split ends or trichoptilosis&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0215" class="elsevierStylePara elsevierViewall">People with acquired trichorrhexis nodosa should be advised to avoid excessive brushing&#44; heat&#44; wind&#44; salt&#44; and other chemical products and to use mild shampoos and conditioner&#46;<a class="elsevierStyleCrossRef" href="#bib0215"><span class="elsevierStyleSup">43</span></a></p></span><span id="sec0070" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Proximal Trichorrhexis Nodosa</span><p id="par0220" class="elsevierStylePara elsevierViewall">Proximal trichorrhexis nodosa is less common than the distal form&#46; The clinical findings are the same&#44; but it is considered to be a more complex condition&#44; as hair shafts can feature several nodes and it is often associated with hypotrichosis and alopecia&#46; It is more common in Black people&#44; who usually show hypotrichosis on the scalp and at other sites&#46; Proximal trichorrhexis nodosa has been linked to the use of certain drugs such as trametinib and tumor necrosis factor inhibitors&#46;<a class="elsevierStyleCrossRefs" href="#bib0220"><span class="elsevierStyleSup">44&#44;45</span></a> Congenital forms of trichorrhexis nodosa also exist and can occur in association with other disorders&#44; such as Menkes syndrome&#44; trichothiodystrophy&#44; monilethrix&#44; congenital arginosuccinic deficiency&#44; citrullinemia&#44; trichohepatoenteric syndrome&#44; biotin deficiency&#44; and hypothyroidism&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;6&#44;7&#44;16</span></a><span class="elsevierStyleSup">&#44;</span><a class="elsevierStyleCrossRefs" href="#bib0230"><span class="elsevierStyleSup">46&#8211;48</span></a> Congenital trichorrhexis is inherited in an autosomal dominant fashion&#46; Patients typically have normal hair for the first few months of life&#44; but this is then replaced by sparse&#44; fragile hair&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a></p></span></span></span><span id="sec0075" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Bubble Hair</span><p id="par0225" class="elsevierStylePara elsevierViewall">Bubble hair is an acquired hair shaft disorder that is more common in women&#46; Patients usually present with a patch of short&#44; fragile hair&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Examination by trichoscopy or optical or electron microscopy shows air-filled cavities &#40;vacuoles&#41; in the cortex of the hair shaft that correspond to keratin hydrolysis and local air expansion induced by the passage of hot water through the shaft &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>H&#41;&#46; Bubble hair is associated with the use of hair dryers&#44; curling tongs&#44; and hair straighteners at temperatures above 125&#160;&#176;C&#46;<a class="elsevierStyleCrossRef" href="#bib0215"><span class="elsevierStyleSup">43</span></a> It can also be associated with trichorrhexis nodosa and trichoptilosis&#46; The condition can be improved by avoidance of excessive heat and chemicals&#46;<a class="elsevierStyleCrossRefs" href="#bib0215"><span class="elsevierStyleSup">43&#44;49</span></a></p></span><span id="sec0080" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0100">Loose Anagen Hair Syndrome</span><p id="par0230" class="elsevierStylePara elsevierViewall">Loose anagen hair syndrome is a hair shaft disorder caused by defective anchoring between the hair shaft and scalp&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It is more common in girls with blonde hair aged between 3 and 6 years &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>A&#41;&#44; although it has been described in patients of all skin phototypes and in adults&#46; It is associated with mutations in <span class="elsevierStyleItalic">SHOC2</span> &#40;10q&#46;25&#41; and <span class="elsevierStyleItalic">KRT75</span>&#46;77&#44;78 &#40;12q&#46;13&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0235" class="elsevierStylePara elsevierViewall">Hair typically comes away easily and painlessly if tugged gently and there may be diffuse hair loss&#46; Parents typically mention that they do not have to cut their children&#8217;s hair because of sparse growth&#46;<a class="elsevierStyleCrossRef" href="#bib0250"><span class="elsevierStyleSup">50</span></a></p><p id="par0240" class="elsevierStylePara elsevierViewall">LAS has been classified into 3 phenotypes<a class="elsevierStyleCrossRef" href="#bib0255"><span class="elsevierStyleSup">51</span></a>&#58;</p><p id="par0245" class="elsevierStylePara elsevierViewall">Type A&#58; decreased hair density&#46;</p><p id="par0250" class="elsevierStylePara elsevierViewall">Type B&#58; difficult-to-style hair&#46;</p><p id="par0255" class="elsevierStylePara elsevierViewall">Type C&#58; normal-appearing hair with increased hair loss&#46;</p><p id="par0260" class="elsevierStylePara elsevierViewall">Optical microscopy shows dystrophic anagen bulbs without a sheath &#40;conferring a golf club&#8211;like appearance&#41; and proximal ruffling of the cuticle &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>I&#41; &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>B&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0260"><span class="elsevierStyleSup">52</span></a></p><p id="par0265" class="elsevierStylePara elsevierViewall">Loose anagen hair syndrome resolves spontaneously with time and does not require treatment&#46; Good response has been reported for topical minoxidil 2&#37; and 5&#37;&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;53</span></a></p></span><span id="sec0085" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0105">Funding</span><p id="par0270" class="elsevierStylePara elsevierViewall">The authors declare that they did not receive any funding for this article&#46;</p></span></span>"
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        0 => array:3 [
          "identificador" => "xres1674848"
          "titulo" => "Abstract"
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              "identificador" => "abst0005"
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          ]
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        1 => array:2 [
          "identificador" => "xpalclavsec1486022"
          "titulo" => "Keywords"
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          "identificador" => "xres1674847"
          "titulo" => "Resumen"
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          "identificador" => "xpalclavsec1486021"
          "titulo" => "Palabras clave"
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        4 => array:2 [
          "identificador" => "sec0005"
          "titulo" => "Introduction"
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        5 => array:3 [
          "identificador" => "sec0010"
          "titulo" => "Hair Shaft Disorders Characterized by Hair Fragility"
          "secciones" => array:10 [
            0 => array:2 [
              "identificador" => "sec0015"
              "titulo" => "Monilethrix"
            ]
            1 => array:2 [
              "identificador" => "sec0020"
              "titulo" => "Pseudomonilethrix"
            ]
            2 => array:2 [
              "identificador" => "sec0025"
              "titulo" => "Bentley-Phillips Familial Pseudomonilethrix &#40;Type I&#41;"
            ]
            3 => array:2 [
              "identificador" => "sec0030"
              "titulo" => "Acquired Pseudomonilethrix in Hair Shaft Disorders &#40;Type II&#41;"
            ]
            4 => array:2 [
              "identificador" => "sec0035"
              "titulo" => "Iatrogenic Pseudomonilethrix &#40;Type III&#41;"
            ]
            5 => array:2 [
              "identificador" => "sec0040"
              "titulo" => "Pili Torti"
            ]
            6 => array:2 [
              "identificador" => "sec0045"
              "titulo" => "Menkes Syndrome &#40;Kinky Hair&#41;"
            ]
            7 => array:2 [
              "identificador" => "sec0050"
              "titulo" => "Netherton Syndrome &#40;Trichorrhexis Invaginata&#41;"
            ]
            8 => array:2 [
              "identificador" => "sec0055"
              "titulo" => "Trichothiodystrophy"
            ]
            9 => array:3 [
              "identificador" => "sec0060"
              "titulo" => "Trichorrhexis Nodosa"
              "secciones" => array:2 [
                0 => array:2 [
                  "identificador" => "sec0065"
                  "titulo" => "Distal Trichorrhexis Nodosa"
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                1 => array:2 [
                  "identificador" => "sec0070"
                  "titulo" => "Proximal Trichorrhexis Nodosa"
                ]
              ]
            ]
          ]
        ]
        6 => array:2 [
          "identificador" => "sec0075"
          "titulo" => "Bubble Hair"
        ]
        7 => array:2 [
          "identificador" => "sec0080"
          "titulo" => "Loose Anagen Hair Syndrome"
        ]
        8 => array:2 [
          "identificador" => "sec0085"
          "titulo" => "Funding"
        ]
        9 => array:2 [
          "identificador" => "xack590017"
          "titulo" => "Acknowledgments"
        ]
        10 => array:1 [
          "titulo" => "References"
        ]
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2021-02-28"
    "fechaAceptado" => "2021-06-06"
    "PalabrasClave" => array:2 [
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec1486022"
          "palabras" => array:3 [
            0 => "Trichoscopy"
            1 => "Hair shaft disorders"
            2 => "Hair"
          ]
        ]
      ]
      "es" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec1486021"
          "palabras" => array:3 [
            0 => "Ricoscopia"
            1 => "Displasias pilosas"
            2 => "Cabello"
          ]
        ]
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    "resumen" => array:2 [
      "en" => array:2 [
        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">Hair shaft disorders&#44; involving dysplastic abnormalities in the shaft&#44; may be either congenital or acquired&#46; Two large categories have been defined according to the presence or not of hair fragility&#46; A diagnosis can usually be made after taking a thorough medical history and performing a physical examination&#46; Trichoscopy has become a useful&#44; cost-effective tool in recent years&#44; particularly for examining the hair of children&#44; because it facilitates inspection without removal of hairs&#46; Structural abnormalities in the hair shaft are sometimes clues to the diagnosis of more complex diseases in which early treatment can improve prognosis&#46; This review describes key features that enable the diagnosis of the most common hair shaft disorders and discusses the various treatments currently available&#46;</p></span>"
      ]
      "es" => array:2 [
        "titulo" => "Resumen"
        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0070" class="elsevierStyleSimplePara elsevierViewall">Las displasias pilosas corresponden a alteraciones en la estructura del tallo del cabello y pueden ser cong&#233;nitas o adquiridas&#46; Se clasifican en dos grandes grupos seg&#250;n la presencia o no de fragilidad capilar&#46; En la mayor&#237;a de los casos la valoraci&#243;n del paciente&#44; la anamnesis y la exploraci&#243;n f&#237;sica nos llevar&#225;n al diagn&#243;stico&#46; En los &#250;ltimos a&#241;os&#44; el uso de la tricoscopia se ha posicionado como una t&#233;cnica &#250;til y coste efectiva&#44; sobre todo en ni&#241;os&#44; ya que permite lograr una adecuada exploraci&#243;n sin tener que arrancar los cabellos&#46;</p><p id="spar0075" class="elsevierStyleSimplePara elsevierViewall">En algunas ocasiones las alteraciones en la estructura del cabello ser&#225;n la clave diagn&#243;stica de enfermedades m&#225;s complejas&#44; en las que la instauraci&#243;n de un tratamiento precoz puede mejorar el pron&#243;stico&#46;</p><p id="spar0080" class="elsevierStyleSimplePara elsevierViewall">El prop&#243;sito de esta revisi&#243;n es aportar las claves que permitan diagnosticar las displasias pilosas m&#225;s frecuentes y valorar las alternativas terap&#233;uticas disponibles en la actualidad&#46;</p></span>"
      ]
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    "NotaPie" => array:1 [
      0 => array:2 [
        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Giacaman A&#44; Ferrando J&#46; Claves diagn&#243;sticas en displasias pilosas I&#46; Actas Dermosifiliogr&#46; 2022&#59;113&#58;141&#8211;149&#46;</p>"
      ]
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Normal hair and hair shaft disorders&#46;</p> <p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A&#44; Terminal hair with inner medulla&#46; B&#44; Monilethrix&#46; C&#44; Pseudomonilethrix&#46; D&#44; Pili torti&#46; E&#44; Trichorrhexis invaginata&#46; F&#44; Trichothiodystrophy&#46; G&#44; Trichorrhexis nodosa&#46; H&#44; Bubble hair&#46; I&#44; Loose anagen hair&#46;</p>"
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          "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Steps in the diagnosis of hair shaft disorders&#46;</p> <p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Adapted from Mirmirani et al&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p>"
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        "descripcion" => array:1 [
          "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">A&#44; Patient with monilethrix&#46; Note the hypotrichosis and papules with perifollicular erythema on the scalp&#46; B&#44; Monilethrix affecting the eyebrows in the same patient&#46; C&#44; Trichoscopic image&#46; D&#44; Electron microscopic image of a hair with monilethrix&#46;</p>"
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          "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">A&#44; Patient with Menkes syndrome and kinky hair&#46; B&#44; Electron microscopy study of hairs from the same patient&#46; Note the pili torti&#44; angles&#44; and trichorrhexis nodosa&#46;</p>"
        ]
      ]
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          "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Typical tiger tail image seen by polarized light microscopy in a patient with trichothiodystrophy&#46;</p>"
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        "etiqueta" => "Figure 6"
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          "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">A&#44; Hypotrichosis in a girl with loose anagen hair&#46; B&#44; Twisted anagen roots and ruffling in the inner sheath of the hair follicle&#46;</p>"
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          "leyenda" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Adapted from Ferrando et al&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p>"
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                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hair shaft disorders with hair fragility&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Monilethrix&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pseudomonilethrix&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pili torti&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Menkes syndrome &#40;kinky hair&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Netherton syndrome &#40;trichorrhexis invaginata&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Trichothiodystrophy&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Trichorrhexis nodosa&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Bubble hair&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Loose anagen hair syndrome&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">Hair shaft disorders with minimal or no hair fragility&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Trichonodosis&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pili annulati&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pseudopili annulati&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Woolly hair&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Diffuse partial woolly hair&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Uncombable hair syndrome &#40;pili canaliculi et trianguli&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">A&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">Hair&#160;&#43;&#47;&#8211;&#160;nails&#160;&#43;&#160;intellectual disability&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">Hair&#160;&#43;&#47;&#8211; nails&#160;&#43;&#160;intellectual disability&#160;&#43;&#160;folliculitis&#160;&#43;&#160;delayed bone age&#160;&#43;&#47;&#8211;&#160;caries&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t">Brittle hair&#160;&#43;&#47;&#8211; nails&#160;&#43;&#160;infertility&#160;&#43;&#160;delayed development&#160;&#43;&#160;low stature&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Ichthyosis&#160;&#43;&#160;BIDS&#46; Hair&#160;&#43;&#47;&#8211; nails&#160;&#43;&#160;intellectual disability&#160;&#43;&#160;low stature&#160;&#43;&#160;gonadal dysfunction&#160;&#43;&#47;&#8211; cataracts&#160;&#43;&#160;low weight&#160;&#43;&#160;microcephaly&#160;&#43;&#47;&#8211;&#160;ataxia&#160;&#43;&#47;&#8211;&#160;brain calcifications&#160;&#43;&#160;erythrodermia and scaling&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">F&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">Type E trichothiodystrophy &#40;IBIDS&#41;&#160;&#43;&#160;photosensitivity&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">G&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Trichothiodystrophy with immune system abnormalities&#46; Hair&#160;&#43;&#160;intellectual disability&#160;&#43;&#160;chronic neutropenia or immunoglobulin deficiency&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Itin&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">H&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Trichothiodystrophy with severe delayed intrauterine growth&#46; Hair&#160;&#43;&#160;delayed intrauterine growth and low weight&#160;&#43;&#160;delayed development&#160;&#43;&#160;recurrent infections&#160;&#43;&#160;cataracts&#160;&#43;&#160;hepatic hemangioendotheliomas&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">&#8211;&nbsp;\t\t\t\t\t\t\n
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        "texto" => "<p id="par0275" class="elsevierStylePara elsevierViewall">We thank Dr&#46; Mart&#237;n-Santiago for her comments during the preparation of this manuscript and for the clinical images provided&#44; Dr&#46; Saus for his dedication and microscopic images&#44; and Marina Cascales for her kind help preparing the graphic representations&#46;</p>"
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Review
Keys to the Diagnosis of Hair Shaft Disorders: Part I
Claves diagnósticas en displasias pilosas I
A. Giacamana,
Autor para correspondencia
anizagiacaman@gmail.com

Corresponding author.
, J. Ferrandob
a Departamento de Dermatología, Hospital Universitari Son Espases, Palma de Mallorca, Spain
b Profesor Honorario de Dermatología de la Universidad de Barcelona, Barcelona, Spain
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typically consult about changes to appearance or texture&#44; increased fragility&#44; and poor growth&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> This review describes key features for recognizing the most common hair shaft disorders and evaluates triggers&#44; prognosis&#44; and current treatments&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Targeted history taking is important when dealing with hair complaints&#46; Examples of questions are &#8220;When did the problem begin&#63;&#8221; &#8220;Was it present at birth or did it begin later&#63;&#8221; &#8220;Have you noticed any changes to teeth or nails&#63;&#8221; &#8220;Do any of your relatives have similar findings&#63;&#8221; and &#8220;How do you look after your hair&#47;What cosmetic products do you use&#63;&#8221; It is also important to ask about frequency of washing&#44; styling techniques&#44; and use of hair gels&#44; permanent straighteners&#44; and hair dryers or curling tongs&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">When examining the hair it is important to<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a>&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">&#8226;</span><p id="par0025" class="elsevierStylePara elsevierViewall">Assess its overall appearance&#44; including luster&#44; curl&#44; and color&#46;</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">&#8226;</span><p id="par0030" class="elsevierStylePara elsevierViewall">Determine whether the abnormality is focal or diffuse&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">&#8226;</span><p id="par0035" class="elsevierStylePara elsevierViewall">Perform a pull test &#40;Sabouraud sign&#41;&#44; which consists of grasping tufts of 20 to 60 hairs between the index finger and thumb and gently pulling on these in different areas of the scalp&#46; The test is positive when more than 10&#37; of the hairs come out&#46;</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">&#8226;</span><p id="par0040" class="elsevierStylePara elsevierViewall">Perform a tug test&#44; which consists of holding a tuft of hair between the fingers several centimeters from the root and tugging it to detect the presence of fragile areas&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">&#8226;</span><p id="par0045" class="elsevierStylePara elsevierViewall">Examine the scalp&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">&#8226;</span><p id="par0050" class="elsevierStylePara elsevierViewall">Use noninvasive tests such as photography and trichoscopy to complement the physical findings&#46;</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">&#8226;</span><p id="par0055" class="elsevierStylePara elsevierViewall">In selected cases&#44; use semi-invasive tests such as trichogram analysis&#44; optical microscopy&#44; and electron microscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">&#8226;</span><p id="par0060" class="elsevierStylePara elsevierViewall">Determine the need for a scalp biopsy where appropriate&#46;</p></li></ul></p><p id="par0065" class="elsevierStylePara elsevierViewall">Hair shaft disorders can be difficult to classify because of overlapping clinical findings&#46; One way of classifying them is according to the presence or absence of hair shaft fragility &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> A thorough history combined with meticulous examination of the hair and additional techniques such as trichoscopy and optical or electron microscopy should result in a correct diagnosis &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="tbl0005"></elsevierMultimedia></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Hair Shaft Disorders Characterized by Hair Fragility</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Monilethrix</span><p id="par0070" class="elsevierStylePara elsevierViewall">Monilethrix is characterized by regularly spaced hair shaft constrictions &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#46; Clinically&#44; the hair tends to be normal at birth&#44; but after a few months it becomes dull&#44; short&#44; and fragile&#59; this results in hypotrichosis&#44; which predominantly affects the occipital region of the scalp&#44; which is more prone to friction &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>A&#41;&#46; Patients with monilethrix usually have pronounced follicular hyperkeratosis on the scalp&#46; This can be focal &#40;with predominant occipital involvement&#41; or diffuse&#46; Marked follicular hyperkeratosis may also be seen in patients with keratosis follicularis spinulosa decalvans &#40;Siemens syndrome&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Monilethrix can also affect the eyebrows &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>B&#41;&#44; eyelashes&#44; and body hair&#46; Patients may also show nail changes such as koilonychia&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#8211;10</span></a></p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0075" class="elsevierStylePara elsevierViewall">Monilethrix is inherited in an autosomal dominant pattern&#44; with high penetrance and variable expressivity&#46; Mutations in the <span class="elsevierStyleItalic">KRT81</span>&#44; <span class="elsevierStyleItalic">KRT83</span>&#44; and <span class="elsevierStyleItalic">KRT86</span> genes&#44; which code for the keratins Hb1&#44; Hb3&#44; and Hb6&#44; cause abnormal keratinization of the hair shaft cortex&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#44;8&#44;11&#44;12</span></a> Monilethrix also has an autosomal recessive form caused by mutations in <span class="elsevierStyleItalic">DSG4</span>&#44; which codes for desmoglein 4&#46; These mutations result in alterations to plakoglobin and desmosomes in the hair shaft&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> Monilethrix has also been linked to keratosis pilaris&#44; hereditary koilonychia&#44; and Holt-Oram syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Trichoscopic examination shows clear narrowing of the hair shaft &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>C&#41;&#46; Other possible findings include erythema&#44; perifollicular hyperkeratosis&#44; and even follicular papules&#46; The hair shafts have a beaded appearance formed by nodes&#44; which correspond to areas with a normal diameter&#44; and regularly spaced&#44; unmedullated constrictions &#40;internodes&#41; &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>D&#41;&#44; which is where breakage tends to occur&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#44;13&#8211;16</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">The clinical course of monilethrix is variable&#46; In most cases&#44; the condition lasts for life&#44; although partial and complete remissions have been reported in the summer and in association with pregnancy&#44; oral contraceptive use&#44; and older age&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a> Variable responses have been described for treatment with topical and oral retinoids&#44; topical minoxidil 2&#37; and 5&#37;&#44; oral minoxidil&#44; and acetylcysteine&#46; There have been reports of recurrence on discontinuation of oral retinoids&#46;<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">18&#8211;20</span></a></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Pseudomonilethrix</span><p id="par0090" class="elsevierStylePara elsevierViewall">Pseudomonilethrix presents with areas of diffuse or focal hair loss&#46; It is characterized by short&#44; beaded hairs that break once they have reached a few millimeters in length&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It occurs at older ages than monilethrix&#46; Unlike monilethrix&#44; it does not show follicular hyperkeratosis and the hair shaft presents irregularly spaced swellings rather than constrictions&#46; In this case&#44; the internodes have the diameter of a normal hair shaft &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>C&#41;&#46; Microscopic examination shows flat&#44; indented swellings&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">Camacho et al&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> proposed the following classification system for pseudomonilethrix&#58;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Bentley-Phillips Familial Pseudomonilethrix &#40;Type I&#41;</span><p id="par0100" class="elsevierStylePara elsevierViewall">Bentley-Phillips familial pseudomonilethrix is inherited as an autosomal dominant disorder with variable penetrance&#59; it was described by Bentley-Phillips and Bayles in 1973&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">22</span></a> It only affects hair on the scalp and can give rise to longitudinal fractures&#46; Onset is prepubertal&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Acquired Pseudomonilethrix in Hair Shaft Disorders &#40;Type II&#41;</span><p id="par0105" class="elsevierStylePara elsevierViewall">Acquired pseudomonilethrix is observed in certain hair shaft disorders with increased hair shaft fragility&#44; such as monilethrix&#44; pili torti&#44; trichorrhexis nodosa&#44; woolly hair&#44; bubble hair&#44; acquired kinking&#44; and acrodermatitis enteropathica&#46;<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">23</span></a> It can manifest as androgenetic alopecia or trichotillomania&#46; Styling and brushing can aggravate the condition&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Iatrogenic Pseudomonilethrix &#40;Type III&#41;</span><p id="par0110" class="elsevierStylePara elsevierViewall">Iatrogenic pseudomonilethrix is seen in hair shaft disorders characterized by hair fragility and individuals with fine&#44; light-colored hair&#59; it is caused by trauma to the hair during the preparation of trichograms &#40;eg&#44; compression by Pean forceps while traction is applied or pressing of the hairs between glass slides&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0120"><span class="elsevierStyleSup">24&#44;25</span></a></p><p id="par0115" class="elsevierStylePara elsevierViewall">As iatrogenic pseudomonilethrix is a laboratory artifact it does not need treatment&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> The use of ultrasound gel as an immersion fluid can also give the impression of flattened hair shafts on trichoscopy&#46; A similar effect is produced by hair gel and patients should therefore be advised not to use products of this type before trichoscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a></p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Pili Torti</span><p id="par0120" class="elsevierStylePara elsevierViewall">Pili torti are flattened hair shafts twisted at regular or irregular intervals around their axis at angles of 90&#176;&#44; 180&#176;&#44; or even 360&#176; &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>D&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a> It has been suggested that cell vacuolation and irregularities in the thickness of the outer root sheath might affect the inner sheath&#44; causing the hair to twist around its axis&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> Pili torti can affect the head and other hair-bearing areas of the body&#44; including eyebrows&#44; eyelashes&#44; underarm hair&#44; and pubic hair&#46; Hair becomes more fragile&#44; leading to breakages and focal or diffuse hypotrichosis&#46; Pili torti tends to cause longitudinal splitting &#40;trichoptilosis&#41;&#46; Physical examination shows short dry hair that acquires a sequin-like appearance upon light reflection as the angles in the hair mean that only some stretches reflect the light&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a></p><p id="par0125" class="elsevierStylePara elsevierViewall">Congenital pili torti has been linked to mutations in <span class="elsevierStyleItalic">BSC1L</span>&#44; <span class="elsevierStyleItalic">ST14</span>&#44; and <span class="elsevierStyleItalic">CDH3</span>&#46; Pili torti can be inherited in an autosomal dominant or recessive pattern and can appear in isolation or in association with other diseases&#44; such as type 2 congenital pachyonychia and Bj&#246;rnstad syndrome&#44; Beare syndrome&#44; Bazex syndrome&#44; Menkes syndrome&#44; and Crandall syndrome&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;17</span></a> It can also occur in isolation in people with fine&#44; blond hair&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">21</span></a> It sometimes improves after puberty&#44; but can last for life&#46;</p><p id="par0130" class="elsevierStylePara elsevierViewall">Acquired pili torti is rare and has been linked to nutritional deficiencies&#44; the use of certain drugs such as oral retinoids and erlotinib&#44; and graft-versus-host disease&#46;<a class="elsevierStyleCrossRefs" href="#bib0130"><span class="elsevierStyleSup">26&#44;27</span></a> Ferrari et al&#46;<a class="elsevierStyleCrossRef" href="#bib0140"><span class="elsevierStyleSup">28</span></a> recently observed pili torti in the trichoscopic examination of a patient with frontal fibrosing alopecia and suggested that it might be a sign of fibrosis and a predictor of poor response to intralesional corticosteroids&#46;</p><p id="par0135" class="elsevierStylePara elsevierViewall">There are currently no effective treatments for pili torti&#46; Physical and chemical trauma should be avoided&#46;</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Menkes Syndrome &#40;Kinky Hair&#41;</span><p id="par0140" class="elsevierStylePara elsevierViewall">Menkes syndrome is a rare neurodegenerative disease caused by abnormal copper metabolism&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a> It was described by the pediatric neurologist John Menkes in 1962&#46;<a class="elsevierStyleCrossRef" href="#bib0150"><span class="elsevierStyleSup">30</span></a> It is an X-linked recessive disorder with an estimated incidence of 1 case per 300&#8239;000 live births in Europe&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a> The causative gene&#44; <span class="elsevierStyleItalic">ATP7A</span>&#44; is located on chromosome X &#40;Xq21&#46;1&#41;&#44; 4&#44;9 &#40;9q31-q32&#41;&#44; 14&#44; and 18 &#40;18&#46;26&#46;0&#160;cM&#41; and encodes a transmembrane protein &#40;ATP7A&#41; that controls copper transport&#46; Defective intestinal absorption of copper results in decreased levels of copper and ceruloplasmin in plasma and organs such as the brain&#44; liver&#44; bones&#44; hair&#44; and skin&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Other pathogenic variants cause milder manifestations such as occipital horn syndrome and motor neuropathy&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a></p><p id="par0145" class="elsevierStylePara elsevierViewall">Children with Menkes syndrome typically show normal development up to 2 to 3 months of age&#44; but then progressively show low weight&#44; delayed psychomotor development&#44; hypothermia&#44; hypotonia&#44; and seizures&#46; Typical findings are pudgy cheeks&#44; a pronounced Cupid&#39;s bow on the upper lip&#44; and horizontal eyebrows&#44; conferring a &#8220;partridge-like&#8221; facies &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>A&#41;&#46; Additional findings are brittle hair&#44; lax skin&#44; joint hypermobility&#44; inguinal hernias&#44; and bladder and urethral diverticula&#46; Milder forms of Menkes syndrome exist but their diagnosis can be delayed as they show very few neurological manifestations&#46; There have been reports of Menkes syndrome presenting with subdural hematomas&#44; cervical spine defects&#44; rib fractures&#44; and irregularities in the metaphysis of long bones&#59; these manifestations were initially confused with signs of child abuse&#46;<a class="elsevierStyleCrossRef" href="#bib0155"><span class="elsevierStyleSup">31</span></a></p><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0150" class="elsevierStylePara elsevierViewall">Trichoscopic examination shows variations in hair shaft diameter&#44; flattening and irregular twists &#40;atypical pili torti&#41;&#44; monilethrix&#44; and&#47;or trichorrhexis nodosa&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> These findings are observed in greater detail by optical or electron microscopy &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>B&#41;&#46;</p><p id="par0155" class="elsevierStylePara elsevierViewall">The diagnosis of Menkes syndrome is based on clinical findings and measurement of serum copper and ceruloplasmin levels&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a></p><p id="par0160" class="elsevierStylePara elsevierViewall">The natural disease course involves progressive loss of neurological functions&#44; causing death in the first years of life&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a> Early diagnosis is critical&#44; as administration of subcutaneous copper-histidine can improve neurological prognosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;29</span></a></p></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Netherton Syndrome &#40;Trichorrhexis Invaginata&#41;</span><p id="par0165" class="elsevierStylePara elsevierViewall">Netherton syndrome is a congenital autosomal recessive keratinization disorder of the skin&#44; hair&#44; and immune system&#46;<a class="elsevierStyleCrossRef" href="#bib0160"><span class="elsevierStyleSup">32</span></a> It was described by Comel &#40;1949&#41; and Netherton &#40;1958&#41;&#46; It is characterized by a triad of ichthyosis &#40;circumflex linear ichthyosis or other types of congenital ichthyosis&#41;&#44; hair shaft alterations&#44; and signs of atopy &#40;elevated immunoglobulin E&#44; hypereosinophilia&#44; eczema&#44; rhinitis&#44; food allergies&#44; and asthma&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0165"><span class="elsevierStyleSup">33&#44;34</span></a> Recurrent bacterial infections are common&#46; Other findings include low weight&#44; enteropathy&#44; kidney failure&#44; and intellectual disability&#46;<a class="elsevierStyleCrossRef" href="#bib0170"><span class="elsevierStyleSup">34</span></a> The estimated incidence of Netherton syndrome is 1 case per 100&#8239;000 to 200&#8239;000 live births&#46;<a class="elsevierStyleCrossRef" href="#bib0160"><span class="elsevierStyleSup">32</span></a> Mutations in the <span class="elsevierStyleItalic">SPINK5</span> gene &#40;chromosome 5q32&#41; cause alterations in the LEKTI protein&#44; leading to overexpression of 3 types of kallikrein&#58; KLK5&#44; KLK7&#44; and KLK14&#46;<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6&#44;34</span></a></p><p id="par0170" class="elsevierStylePara elsevierViewall">Patients with Netherton syndrome have short&#44; lusterless&#44; brittle hair&#46; Trichorrhexis invaginata&#44; or bamboo hair &#40;hair with areas of invagination&#41;&#44; is considered a specific finding &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>E&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0175"><span class="elsevierStyleSup">35</span></a> Low-magnification trichoscopy shows multiple&#44; irregularly spaced&#44; swellings along the hair shaft&#46; Higher-magnification images show invagination of the distal hair shaft into the proximal part&#44; forming a pathognomonic &#8220;ball in cup&#8221; appearance&#46; When the hair breaks at the distal end&#44; the proximal part acquires a golf-tee appearance&#46; According to Rudnicka et al&#46;&#44;<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">14&#44;16</span></a> these trichoscopic findings are more easily observed in eyebrows&#44; as these have a 10-fold higher density of bamboo hair than the scalp&#46; Pili torti and trichorrhexis nodosa may also be present&#44; but they are not characteristic and can improve with time and even resolve completely&#46;<a class="elsevierStyleCrossRef" href="#bib0180"><span class="elsevierStyleSup">36</span></a></p><p id="par0175" class="elsevierStylePara elsevierViewall">A recent case-control study of 8 patients with Netherton syndrome reported a band-like pattern under polarized light microscopy that was more common than the pathognomonic invaginata trichorrhexis&#46;<a class="elsevierStyleCrossRef" href="#bib0165"><span class="elsevierStyleSup">33</span></a></p><p id="par0180" class="elsevierStylePara elsevierViewall">There are no specific treatments for Netherton syndrome&#59; prognosis is poor and mortality is high during the first years of life due to water loss&#44; hypernatremic dehydration&#44; and bacterial infections&#46;<a class="elsevierStyleCrossRefs" href="#bib0160"><span class="elsevierStyleSup">32&#44;34</span></a> Treatments are aimed at improving skin manifestations and include oral corticosteroids&#44; retinoids&#44; phototherapy&#44; topical calcineurin inhibitors&#44; and lactate lotions&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a> New targeted therapies such as dupilumab that are being used in atopic dermatitis might be useful in Netherton syndrome&#44; but more evidence is needed before they can be recommended&#46;<a class="elsevierStyleCrossRefs" href="#bib0170"><span class="elsevierStyleSup">34&#44;37</span></a></p></span><span id="sec0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Trichothiodystrophy</span><p id="par0185" class="elsevierStylePara elsevierViewall">Trichothiodystrophy &#40;TTD&#41; comprises a heterogeneous group of diseases &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The main findings are hair abnormalities&#44; microdolicocephaly&#44; delayed psychomotor development&#44; ichthyosis&#44; signs of early aging&#44; and photosensitivity&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;38</span></a> Nail abnormalities such as onychodystrophy&#44; koilonychia&#44; furrows&#44; onychogryphosis&#44; onychoschizia&#44; yellowish discoloration&#44; and unguis inflexus &#40;longitudinal curvature of nails&#41; are common&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a> Trichothiodystrophy is inherited in an autosomal recessive pattern&#46; Four genes have been described&#58; <span class="elsevierStyleItalic">XPD</span>&#44; <span class="elsevierStyleItalic">XPB</span>&#44; <span class="elsevierStyleItalic">p8&#47;TTDA</span>&#44; and <span class="elsevierStyleItalic">TTDN1</span>&#46; The first 3 have a role in DNA nucleotide transcription&#44; repair&#44; and cleavage&#46; Unlike xeroderma pigmentosum&#44; however&#44; trichothiodystrophy is not associated with a greater predisposition to cancer&#46;<a class="elsevierStyleCrossRefs" href="#bib0190"><span class="elsevierStyleSup">38&#8211;40</span></a> Clinical examination shows lusterless&#44; fragile hair&#44; hypotrichosis&#44; and alopecia&#46; These findings are also seen in the eyebrows and eyelashes&#46; Trichothiodystrophy should be considered in the differential diagnosis when assessing a patient with congenital alopecia&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a></p><elsevierMultimedia ident="tbl0010"></elsevierMultimedia><p id="par0190" class="elsevierStylePara elsevierViewall">Hair shaft alterations must be present for a diagnosis of trichothiodystrophy to be established&#46; Samples must be taken from different areas of the scalp and examined by optical or electron microscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a> Findings include transverse fractures &#40;trichoschisis&#41;&#44; irregular hair shaft diameters and surfaces&#44; and other features similar to those observed in trichorrhexis nodosa or pili torti&#46; Polarized light microscopy shows a characteristic tiger tail appearance consisting of alternating light and dark bands &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>F&#41; &#40;<a class="elsevierStyleCrossRef" href="#fig0025">Fig&#46; 5</a>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0190"><span class="elsevierStyleSup">38</span></a> More recently described trichoscopic findings include glomerular hairs&#44; which are kinked hairs with breakages at the level of the infundibulum&#46;<a class="elsevierStyleCrossRef" href="#bib0205"><span class="elsevierStyleSup">41</span></a> The tiger tail sign can also be visualized without the need for microscopic examination using polarized transilluminating dermoscopy with two dermoscopes and a mobile telephone or a dermoscope and a mirror&#46;<a class="elsevierStyleCrossRef" href="#bib0210"><span class="elsevierStyleSup">42</span></a></p><elsevierMultimedia ident="fig0025"></elsevierMultimedia><p id="par0195" class="elsevierStylePara elsevierViewall">There are no specific treatments for the hair alterations associated with trichothiodystrophy&#44; although avoidance of local trauma and administration of minoxidil 2&#37; or oral cystine supplements have shown beneficial effects&#46; Oral biotin has not proven effective in this setting&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a></p></span><span id="sec0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Trichorrhexis Nodosa</span><p id="par0200" class="elsevierStylePara elsevierViewall">Trichorrhexis nodosa is a defect in which nodes along the hair shaft create weak points that result in easily broken hair&#46; It is clinically characterized by fine&#44; sparse hair&#46; Trichoscopy with fluid immersion shows thickened nodes&#8212;sometimes accompanied by signs of breakage&#8212;along the shaft&#46; Trichoscopy without fluid immersion shows small whitish areas that correspond to the breakage areas&#46; Higher magnification will reveal numerous short fibers within the node&#44; giving the appearance of the ends of two brushes facing each other &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>G&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">8&#44;14</span></a> Sharp angles may also be seen&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a> These findings can be visualized in greater detail by optical or electron microscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a></p><p id="par0205" class="elsevierStylePara elsevierViewall">There are 2 types of trichorrhexis nodosa&#46;</p><span id="sec0065" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Distal Trichorrhexis Nodosa</span><p id="par0210" class="elsevierStylePara elsevierViewall">Distal trichorrhexis nodosa is an acquired condition caused by exposure to external physical and chemical agents&#46; It affects individuals with long hair and involvement is diffuse&#46; It is more common in young women and is associated with excessive brushing and cosmetic treatments&#46; Clinical findings include small whitish nodes at the distal end of the hair shafts&#44; which tend to fracture longitudinally&#44; causing split ends or trichoptilosis&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0215" class="elsevierStylePara elsevierViewall">People with acquired trichorrhexis nodosa should be advised to avoid excessive brushing&#44; heat&#44; wind&#44; salt&#44; and other chemical products and to use mild shampoos and conditioner&#46;<a class="elsevierStyleCrossRef" href="#bib0215"><span class="elsevierStyleSup">43</span></a></p></span><span id="sec0070" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Proximal Trichorrhexis Nodosa</span><p id="par0220" class="elsevierStylePara elsevierViewall">Proximal trichorrhexis nodosa is less common than the distal form&#46; The clinical findings are the same&#44; but it is considered to be a more complex condition&#44; as hair shafts can feature several nodes and it is often associated with hypotrichosis and alopecia&#46; It is more common in Black people&#44; who usually show hypotrichosis on the scalp and at other sites&#46; Proximal trichorrhexis nodosa has been linked to the use of certain drugs such as trametinib and tumor necrosis factor inhibitors&#46;<a class="elsevierStyleCrossRefs" href="#bib0220"><span class="elsevierStyleSup">44&#44;45</span></a> Congenital forms of trichorrhexis nodosa also exist and can occur in association with other disorders&#44; such as Menkes syndrome&#44; trichothiodystrophy&#44; monilethrix&#44; congenital arginosuccinic deficiency&#44; citrullinemia&#44; trichohepatoenteric syndrome&#44; biotin deficiency&#44; and hypothyroidism&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;6&#44;7&#44;16</span></a><span class="elsevierStyleSup">&#44;</span><a class="elsevierStyleCrossRefs" href="#bib0230"><span class="elsevierStyleSup">46&#8211;48</span></a> Congenital trichorrhexis is inherited in an autosomal dominant fashion&#46; Patients typically have normal hair for the first few months of life&#44; but this is then replaced by sparse&#44; fragile hair&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">17</span></a></p></span></span></span><span id="sec0075" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Bubble Hair</span><p id="par0225" class="elsevierStylePara elsevierViewall">Bubble hair is an acquired hair shaft disorder that is more common in women&#46; Patients usually present with a patch of short&#44; fragile hair&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Examination by trichoscopy or optical or electron microscopy shows air-filled cavities &#40;vacuoles&#41; in the cortex of the hair shaft that correspond to keratin hydrolysis and local air expansion induced by the passage of hot water through the shaft &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>H&#41;&#46; Bubble hair is associated with the use of hair dryers&#44; curling tongs&#44; and hair straighteners at temperatures above 125&#160;&#176;C&#46;<a class="elsevierStyleCrossRef" href="#bib0215"><span class="elsevierStyleSup">43</span></a> It can also be associated with trichorrhexis nodosa and trichoptilosis&#46; The condition can be improved by avoidance of excessive heat and chemicals&#46;<a class="elsevierStyleCrossRefs" href="#bib0215"><span class="elsevierStyleSup">43&#44;49</span></a></p></span><span id="sec0080" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0100">Loose Anagen Hair Syndrome</span><p id="par0230" class="elsevierStylePara elsevierViewall">Loose anagen hair syndrome is a hair shaft disorder caused by defective anchoring between the hair shaft and scalp&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It is more common in girls with blonde hair aged between 3 and 6 years &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>A&#41;&#44; although it has been described in patients of all skin phototypes and in adults&#46; It is associated with mutations in <span class="elsevierStyleItalic">SHOC2</span> &#40;10q&#46;25&#41; and <span class="elsevierStyleItalic">KRT75</span>&#46;77&#44;78 &#40;12q&#46;13&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0235" class="elsevierStylePara elsevierViewall">Hair typically comes away easily and painlessly if tugged gently and there may be diffuse hair loss&#46; Parents typically mention that they do not have to cut their children&#8217;s hair because of sparse growth&#46;<a class="elsevierStyleCrossRef" href="#bib0250"><span class="elsevierStyleSup">50</span></a></p><p id="par0240" class="elsevierStylePara elsevierViewall">LAS has been classified into 3 phenotypes<a class="elsevierStyleCrossRef" href="#bib0255"><span class="elsevierStyleSup">51</span></a>&#58;</p><p id="par0245" class="elsevierStylePara elsevierViewall">Type A&#58; decreased hair density&#46;</p><p id="par0250" class="elsevierStylePara elsevierViewall">Type B&#58; difficult-to-style hair&#46;</p><p id="par0255" class="elsevierStylePara elsevierViewall">Type C&#58; normal-appearing hair with increased hair loss&#46;</p><p id="par0260" class="elsevierStylePara elsevierViewall">Optical microscopy shows dystrophic anagen bulbs without a sheath &#40;conferring a golf club&#8211;like appearance&#41; and proximal ruffling of the cuticle &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>I&#41; &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>B&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0260"><span class="elsevierStyleSup">52</span></a></p><p id="par0265" class="elsevierStylePara elsevierViewall">Loose anagen hair syndrome resolves spontaneously with time and does not require treatment&#46; Good response has been reported for topical minoxidil 2&#37; and 5&#37;&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;53</span></a></p></span><span id="sec0085" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0105">Funding</span><p id="par0270" class="elsevierStylePara elsevierViewall">The authors declare that they did not receive any funding for this article&#46;</p></span></span>"
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          "identificador" => "sec0005"
          "titulo" => "Introduction"
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          "identificador" => "sec0010"
          "titulo" => "Hair Shaft Disorders Characterized by Hair Fragility"
          "secciones" => array:10 [
            0 => array:2 [
              "identificador" => "sec0015"
              "titulo" => "Monilethrix"
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            1 => array:2 [
              "identificador" => "sec0020"
              "titulo" => "Pseudomonilethrix"
            ]
            2 => array:2 [
              "identificador" => "sec0025"
              "titulo" => "Bentley-Phillips Familial Pseudomonilethrix &#40;Type I&#41;"
            ]
            3 => array:2 [
              "identificador" => "sec0030"
              "titulo" => "Acquired Pseudomonilethrix in Hair Shaft Disorders &#40;Type II&#41;"
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            4 => array:2 [
              "identificador" => "sec0035"
              "titulo" => "Iatrogenic Pseudomonilethrix &#40;Type III&#41;"
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              "identificador" => "sec0040"
              "titulo" => "Pili Torti"
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              "identificador" => "sec0045"
              "titulo" => "Menkes Syndrome &#40;Kinky Hair&#41;"
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            7 => array:2 [
              "identificador" => "sec0050"
              "titulo" => "Netherton Syndrome &#40;Trichorrhexis Invaginata&#41;"
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              "identificador" => "sec0055"
              "titulo" => "Trichothiodystrophy"
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              "identificador" => "sec0060"
              "titulo" => "Trichorrhexis Nodosa"
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                  "identificador" => "sec0065"
                  "titulo" => "Distal Trichorrhexis Nodosa"
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                  "identificador" => "sec0070"
                  "titulo" => "Proximal Trichorrhexis Nodosa"
                ]
              ]
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          ]
        ]
        6 => array:2 [
          "identificador" => "sec0075"
          "titulo" => "Bubble Hair"
        ]
        7 => array:2 [
          "identificador" => "sec0080"
          "titulo" => "Loose Anagen Hair Syndrome"
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        8 => array:2 [
          "identificador" => "sec0085"
          "titulo" => "Funding"
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          "titulo" => "Acknowledgments"
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          "titulo" => "References"
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    "fechaRecibido" => "2021-02-28"
    "fechaAceptado" => "2021-06-06"
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          "clase" => "keyword"
          "titulo" => "Keywords"
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            0 => "Trichoscopy"
            1 => "Hair shaft disorders"
            2 => "Hair"
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      ]
      "es" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec1486021"
          "palabras" => array:3 [
            0 => "Ricoscopia"
            1 => "Displasias pilosas"
            2 => "Cabello"
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        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">Hair shaft disorders&#44; involving dysplastic abnormalities in the shaft&#44; may be either congenital or acquired&#46; Two large categories have been defined according to the presence or not of hair fragility&#46; A diagnosis can usually be made after taking a thorough medical history and performing a physical examination&#46; Trichoscopy has become a useful&#44; cost-effective tool in recent years&#44; particularly for examining the hair of children&#44; because it facilitates inspection without removal of hairs&#46; Structural abnormalities in the hair shaft are sometimes clues to the diagnosis of more complex diseases in which early treatment can improve prognosis&#46; This review describes key features that enable the diagnosis of the most common hair shaft disorders and discusses the various treatments currently available&#46;</p></span>"
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        "titulo" => "Resumen"
        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0070" class="elsevierStyleSimplePara elsevierViewall">Las displasias pilosas corresponden a alteraciones en la estructura del tallo del cabello y pueden ser cong&#233;nitas o adquiridas&#46; Se clasifican en dos grandes grupos seg&#250;n la presencia o no de fragilidad capilar&#46; En la mayor&#237;a de los casos la valoraci&#243;n del paciente&#44; la anamnesis y la exploraci&#243;n f&#237;sica nos llevar&#225;n al diagn&#243;stico&#46; En los &#250;ltimos a&#241;os&#44; el uso de la tricoscopia se ha posicionado como una t&#233;cnica &#250;til y coste efectiva&#44; sobre todo en ni&#241;os&#44; ya que permite lograr una adecuada exploraci&#243;n sin tener que arrancar los cabellos&#46;</p><p id="spar0075" class="elsevierStyleSimplePara elsevierViewall">En algunas ocasiones las alteraciones en la estructura del cabello ser&#225;n la clave diagn&#243;stica de enfermedades m&#225;s complejas&#44; en las que la instauraci&#243;n de un tratamiento precoz puede mejorar el pron&#243;stico&#46;</p><p id="spar0080" class="elsevierStyleSimplePara elsevierViewall">El prop&#243;sito de esta revisi&#243;n es aportar las claves que permitan diagnosticar las displasias pilosas m&#225;s frecuentes y valorar las alternativas terap&#233;uticas disponibles en la actualidad&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Giacaman A&#44; Ferrando J&#46; Claves diagn&#243;sticas en displasias pilosas I&#46; Actas Dermosifiliogr&#46; 2022&#59;113&#58;141&#8211;149&#46;</p>"
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Normal hair and hair shaft disorders&#46;</p> <p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A&#44; Terminal hair with inner medulla&#46; B&#44; Monilethrix&#46; C&#44; Pseudomonilethrix&#46; D&#44; Pili torti&#46; E&#44; Trichorrhexis invaginata&#46; F&#44; Trichothiodystrophy&#46; G&#44; Trichorrhexis nodosa&#46; H&#44; Bubble hair&#46; I&#44; Loose anagen hair&#46;</p>"
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          "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Steps in the diagnosis of hair shaft disorders&#46;</p> <p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Adapted from Mirmirani et al&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p>"
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          "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">A&#44; Patient with monilethrix&#46; Note the hypotrichosis and papules with perifollicular erythema on the scalp&#46; B&#44; Monilethrix affecting the eyebrows in the same patient&#46; C&#44; Trichoscopic image&#46; D&#44; Electron microscopic image of a hair with monilethrix&#46;</p>"
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          "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">A&#44; Patient with Menkes syndrome and kinky hair&#46; B&#44; Electron microscopy study of hairs from the same patient&#46; Note the pili torti&#44; angles&#44; and trichorrhexis nodosa&#46;</p>"
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          "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Typical tiger tail image seen by polarized light microscopy in a patient with trichothiodystrophy&#46;</p>"
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          "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">A&#44; Hypotrichosis in a girl with loose anagen hair&#46; B&#44; Twisted anagen roots and ruffling in the inner sheath of the hair follicle&#46;</p>"
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          "leyenda" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Adapted from Ferrando et al&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p>"
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                  \t\t\t\t">Hair shaft disorders with hair fragility&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Monilethrix&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pseudomonilethrix&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pili torti&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Menkes syndrome &#40;kinky hair&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Netherton syndrome &#40;trichorrhexis invaginata&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Trichothiodystrophy&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Trichorrhexis nodosa&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Bubble hair&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Loose anagen hair syndrome&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hair shaft disorders with minimal or no hair fragility&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Trichonodosis&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pili annulati&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Pseudopili annulati&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Woolly hair&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Diffuse partial woolly hair&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Woolly hair nevus&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Acquired progressive kinking of the hair&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Acquired partial kinking of the hair&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Straight hair nevus&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleHsp" style=""></span>Uncombable hair syndrome &#40;pili canaliculi et trianguli&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
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          "leyenda" => "<p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">Adapted from Itin et al&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">39</span></a>&#46;</p>"
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                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Type&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Findings&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Eponym&#47;acronym&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">A&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hair&#160;&#43;&#47;&#8211;&#160;nails&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8211;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hair&#160;&#43;&#47;&#8211;&#160;nails&#160;&#43;&#160;intellectual disability&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Sabinas&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hair&#160;&#43;&#47;&#8211; nails&#160;&#43;&#160;intellectual disability&#160;&#43;&#160;folliculitis&#160;&#43;&#160;delayed bone age&#160;&#43;&#47;&#8211;&#160;caries&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Pollitt&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">D&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Brittle hair&#160;&#43;&#47;&#8211; nails&#160;&#43;&#160;infertility&#160;&#43;&#160;delayed development&#160;&#43;&#160;low stature&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">BIDS&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">E&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Ichthyosis&#160;&#43;&#160;BIDS&#46; Hair&#160;&#43;&#47;&#8211; nails&#160;&#43;&#160;intellectual disability&#160;&#43;&#160;low stature&#160;&#43;&#160;gonadal dysfunction&#160;&#43;&#47;&#8211; cataracts&#160;&#43;&#160;low weight&#160;&#43;&#160;microcephaly&#160;&#43;&#47;&#8211;&#160;ataxia&#160;&#43;&#47;&#8211;&#160;brain calcifications&#160;&#43;&#160;erythrodermia and scaling&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Tay&#160;&#43;&#160;BIDS&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">F&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Type E trichothiodystrophy &#40;IBIDS&#41;&#160;&#43;&#160;photosensitivity&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">PIBIDS&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">G&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Trichothiodystrophy with immune system abnormalities&#46; Hair&#160;&#43;&#160;intellectual disability&#160;&#43;&#160;chronic neutropenia or immunoglobulin deficiency&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Itin&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">H&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Trichothiodystrophy with severe delayed intrauterine growth&#46; Hair&#160;&#43;&#160;delayed intrauterine growth and low weight&#160;&#43;&#160;delayed development&#160;&#43;&#160;recurrent infections&#160;&#43;&#160;cataracts&#160;&#43;&#160;hepatic hemangioendotheliomas&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8211;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
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