Case and Research Letters
Uncombable Hair Syndrome Type 1
Síndrome del cabello impeinable tipo 1
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"apellidos" => "Rodríguez-Pinilla" ] ] ] ] "resumen" => array:1 [ 0 => array:3 [ "titulo" => "Graphical abstract" "clase" => "graphical" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall"><elsevierMultimedia ident="fig0020"></elsevierMultimedia></p></span>" ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731024005957?idApp=UINPBA000044" "url" => "/00017310/unassign/S0001731024005957/v1_202410040440/en/main.assets" ] "itemAnterior" => array:17 [ "pii" => "S0001731023004908" "issn" => "00017310" "doi" => "10.1016/j.ad.2023.05.022" "estado" => "S200" "fechaPublicacion" => "2023-07-18" "aid" => "3547" "copyright" => "AEDV" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "crp" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => "Recalcitrant Hailey–Hailey Disease With Satisfactory Response to Apremilast" "tienePdf" => "en" "tieneTextoCompleto" => "en" "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Enfermedad de Hailey-Hailey recalcitrante con respuesta satisfactoria a apremilast" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2049 "Ancho" => 1555 "Tamanyo" => 362161 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Red-brown plaques with superficial erosions and a macerated appearance, located in the axillary folds (A) and groin (B) before the start of treatment with apremilast. Note the improvement of the lesions after 6 months of treatment with apremilast 30<span class="elsevierStyleHsp" style=""></span>mg twice a day (C and D).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "M. Mansilla-Polo, C. Abril-Pérez, M.Á. Navarro-Mira, R. Botella-Estrada" "autores" => array:4 [ 0 => array:2 [ "nombre" => "M." "apellidos" => "Mansilla-Polo" ] 1 => array:2 [ "nombre" => "C." "apellidos" => "Abril-Pérez" ] 2 => array:2 [ "nombre" => "M.Á." "apellidos" => "Navarro-Mira" ] 3 => array:2 [ "nombre" => "R." "apellidos" => "Botella-Estrada" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731023004908?idApp=UINPBA000044" "url" => "/00017310/unassign/S0001731023004908/v1_202307180913/en/main.assets" ] "asociados" => array:1 [ 0 => array:17 [ "pii" => "S0001731023005203" "issn" => "00017310" "doi" => "10.1016/j.ad.2023.01.018" "estado" => "S200" "fechaPublicacion" => "2023-07-13" "aid" => "3567" "copyright" => "AEDV" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "crp" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "es" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Carta científico-clínica</span>" "titulo" => "Síndrome del cabello impeinable tipo 1" "tienePdf" => "es" "tieneTextoCompleto" => "es" "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Uncombable Hair Syndrome Type 1" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figura 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1130 "Ancho" => 2007 "Tamanyo" => 246475 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Microscopía electrónica, <span class="elsevierStyleItalic">Pili trianguli et canaliculi</span>. (Centres Científics i Tecnològics Universitat de Barcelona).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "L. Olaz Cecilia, M. Alcalde Alonso, C. Velázquez De Castro Del Pino, J. Ferrando Barberà" "autores" => array:4 [ 0 => array:2 [ "nombre" => "L." "apellidos" => "Olaz Cecilia" ] 1 => array:2 [ "nombre" => "M." "apellidos" => "Alcalde Alonso" ] 2 => array:2 [ "nombre" => "C." "apellidos" => "Velázquez De Castro Del Pino" ] 3 => array:2 [ "nombre" => "J." "apellidos" => "Ferrando Barberà" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731023005203?idApp=UINPBA000044" "url" => "/00017310/unassign/S0001731023005203/v2_202401062101/es/main.assets" ] ] "en" => array:14 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letters</span>" "titulo" => " Uncombable Hair Syndrome Type 1" "tieneTextoCompleto" => true "saludo" => "<span class="elsevierStyleItalic">To the Editor,</span>" "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "L. Olaz Cecilia, M. Alcalde Alonso, C. Velázquez De Castro Del Pino, J. Ferrando Barberà" "autores" => array:4 [ 0 => array:4 [ "nombre" => "L." "apellidos" => "Olaz Cecilia" "email" => array:1 [ 0 => "dra_olazdevergel@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "M." "apellidos" => "Alcalde Alonso" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "C." "apellidos" => "Velázquez De Castro Del Pino" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "J." "apellidos" => "Ferrando Barberà" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Dermatología Médico-Quirúrgica y Venereología, Hospital Universitario Torrecárdenas, Almería, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Laboratorio de Análisis Clínicos, Hospital Universitario Torrecárdenas, Almería, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Universidad de Barcelona, Barcelona, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome del cabello impeinable tipo 1" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1412 "Ancho" => 2508 "Tamanyo" => 312725 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Girl with short, blonde, dry, and always unkempt hair.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A 2-year-old girl was referred to our clinic for showing short, coarse, and always unkempt hair. The alteration had begun within the first few months of life and progressively worsened (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a><a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a>). No personal or family pathological history was reported. Psychomotor development was normal, and no other skeletal, ophthalmological, otic, or dental disorders were found. On examination, the scalp showed low density of blonde, dry, dull, coarse, and disordered hair. Eyebrows and eyelashes were unremarkable. Trichoscopy revealed the presence of hairs with a longitudinal groove or channel emerging from the scalp in different directions (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a><a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a>). Blood tests were normal. Electron microscopy (EM) showed grooved hair shafts with a triangular shape in cross-section (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a><a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a>). Genetic study confirmed a mutation in the PADI3 gene, showing 2 altered nucleotides c.335t<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>a (p.leu 112his) and c881c<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>t (p.ala 294val), confirming the diagnosis of uncombable hair syndrome type 1. Oral biotin and zinc pyrithione shampoo were prescribed. In subsequent follow-ups, the girl showed increased hair density, longer hair, and it remained unkempt.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Uncombable hair syndrome (UHS) was first described by Dupré et al. in 1973, and that same year, Stroud and Mehregan reported a similar case in a 6-year-old girl. However, the phenotype had been recognized much earlier and gained notoriety with the famous literary character “Struwwelpeter” (“Shock-headed Peter”) from the children's book published by the German physician Heinrich Hoffmann back in 1845. It has also been called “glass wool hair” due to its appearance, while “pili trianguli et canaliculi” refers to its appearance under electron microscopy (EM).<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> To date, a total of 127 cases have been reported.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a> Both sporadic and autosomal recessive cases have been described, and it can be an isolated phenotype or part of a syndrome. Clinically, it shows as silvery, blonde, or straw-colored hair, dry, frizzy, with a characteristic shine due to light reflection on the grooved hair. It deviates from the scalp in different directions and is impossible to comb. It typically affects scalp hair, while eyebrows, eyelashes, and other hairy areas are rarely affected. Localized variants in the frontal or occipital regions have been reported. Three subtypes have been described based on the mutated gene: type 1 (OMIM 191480) in the PADI3 gene (peptidyl arginine deiminase III); type 2 (OMIM 617251) in the TGM3 gene (transglutaminase 3); and type 3 (OMIM 617252) in the TCHH gene (trichohyalin).<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">3,7</span></a> The constant finding is the “pili canaliculi”, which can also be observed in the loose anagen hair syndrome, androgenetic alopecia, alopecia areata, scarring alopecia, and other ectodermal dysplasias. It has been described in association with skin (63%), nail (28%), and dental (25%) disorders and, occasionally, with dysmorphic, neuropsychiatric and developmental, ophthalmic, otic, and cardiopulmonary disorders.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a> Trichoscopy shows well-implanted terminal hairs going in different directions, some even overlapping and crossing, without any signs of perifollicular inflammation.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4,6</span></a> In EM, longitudinal channels are observed, and in cross-section, they may appear triangular, kidney-shaped, quadrangular, or irregular.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1,6</span></a> In general, UHS tends to improve with the onset of puberty. Treatments have included biotin supplements,<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4–6</span></a> with favorable results in some patients. The use of zinc pyrithione shampoos may also be beneficial in this condition by producing a rebound effect in the production of scalp oil, providing some conditioning effect, and improving the extremely dry appearance of the hair.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a> Although UHS usually presents as an isolated sign on the scalp, its occasional coexistence with other disorders makes it highly advisable to rule them out and, whenever possible, to conduct genetic studies to narrow down the different variants that may exist.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0015" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1412 "Ancho" => 2508 "Tamanyo" => 312725 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Girl with short, blonde, dry, and always unkempt hair.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1130 "Ancho" => 2007 "Tamanyo" => 256846 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Trichoscopy showing grooved hairs emerging in different directions and crossing each other.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1130 "Ancho" => 2007 "Tamanyo" => 240201 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Electron microscopy, “Pili trianguli et canaliculi” (Scientific and Technological Centers, Universitat de Barcelona, Barcelona, Spain).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0040" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pili canaliculi («cheveux incoiffables» ou «cheveux en fibre de verre»). 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| año/Mes | Html | Total | |
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