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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Segmental neurofibromatosis &#40;NF&#41; is a rare entity characterized by neurofibromas&#44; with or without the presence of caf&#233; au lait spots&#44; distributed in either 1 or&#44; less frequently&#44; 2 or more dermatomes&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">A 55-year-old woman with no personal or family history of interest was seen at our dermatology department for multiple skin-colored papules and nodules &#40;3&#8211;15<span class="elsevierStyleHsp" style=""></span>mm in diameter&#41; with an elastic consistency that had appeared 10 years earlier and were located exclusively in the distal areas of the legs and on the feet &#40;<a class="elsevierStyleCrossRefs" href="#fig0005">Figs&#46; 1 and 2</a>&#41;&#46; Caf&#233; au lait spots&#44; axillary freckles&#44; and plexiform neurofibroma lesions were absent&#46; Two of the lesions were excised and subsequent histology confirmed the clinical suspicion of neurofibroma &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; The patient was diagnosed with bilateral segmental NF&#46; Ocular&#44; neurological&#44; and visceral involvement were ruled out&#46; The patient was monitored for 10 years&#44; during which no new lesions appeared in other areas of the body&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Segmental NF is 10 to 20 times less frequent than classical type I NF&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;3</span></a> It is caused by somatic mosaicism due to a postzygotic mutation in the <span class="elsevierStyleItalic">NF1</span> gene&#46; Therefore&#44; all cases are sporadic by definition&#46; Some familial cases have been described&#44; and can be explained by somatic and gonadal involvement due to mosaicism&#44; although there are also some cases of vertical transmission of segmental NF that this mechanism cannot adequately explain&#46; Depending on whether the mutation occurs before or after tissue differentiation&#44; the clinical phenotype of mosaicism can be generalized or localized&#44; respectively&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#8211;6</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">NF was first classified in 1982&#44; and divided into 8 subtypes&#44; of which type 5 corresponded to segmental NF&#44; defined by the presence of pigmentation disorders &#40;including caf&#233; au lait spots or axillary freckles&#41; or of neurofibromas located in a single unilateral segment of the body without crossing the midline&#44; without a family history of NF and without systemic involvement or extracutaneous lesions&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;7</span></a> Because not all patients with segmental involvement corresponded to the description of type 5 NF&#44; in 1987 Roth et al proposed a classification system for segmental NF consisting of 4 categories&#58; true segmental NF&#59; localized NF with deep involvement&#59; hereditary segmental NF&#59; and bilateral segmental NF&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2&#44;7</span></a> Yet another classification system describes 4 types of segmental NF according to the corresponding lesions&#58; pigmentation disorders only&#59; neurofibromas only&#59; pigmentation disorders with neurofibromas&#59; and isolated plexiform neurofibromas&#46;<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5&#44;6</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Bilateral segmental NF is an uncommon form of segmental NF&#44; first described by Gammel in 1931&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> In their series of 82 cases of segmental NF&#44; Hager et al<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a> found that the most frequent clinical presentation was isolated unilateral neurofibromas occupying dermatomes &#40;predominantly in the cervical region&#44; with decreasing frequency in the thoracic&#44; lumbar&#44; and sacral regions&#41;&#44; and observed bilateral involvement in 5 cases&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">A review of 15 published cases of bilateral segmental NF suggests that the most frequent clinical presentation is the exclusive presence of bilateral neurofibromas without pigmented lesions affecting the lumbar region&#44; scalp&#44; chest wall&#44; chest&#44; upper extremities&#44; and infraorbital region&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> We have not found any published cases of bilateral segmental involvement of the lower extremities&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Diagnosis of segmental NF requires a physical examination to evaluate other cutaneous manifestations of the disease and rule out generalized involvement&#44; and an ophthalmological examination to rule out the presence of Lisch nodules&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;3</span></a> Clinically&#44; the disease course is similar to that of type I NF&#44; with progressive development of pigmentation disorders and plexiform neurofibromas in childhood and neurofibromas in adulthood&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;5&#44;6</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Interestingly&#44; segmental NF is twice as common in women than men&#44; and the right side of the body is more commonly affected than the left&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;3&#44;9</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">There are no specific guidelines for the treatment and follow-up of segmental NF and there is some controversy as to whether segmental NF is associated with an increase in comorbidities typical of type I NF&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> However&#44; patients should know that the absence of generalized type I NF implies a low risk of disease-related complications&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2&#44;6</span></a> Given that mosaicism can also affect the germline&#44; genetic counseling should be considered for affected individuals&#46;<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">4&#44;9</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of Interest</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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Case and Research Letter
Bilateral Segmental Neurofibromatosis on the Lower Limbs
Neurofibromatosis segmentaria bilateral en extremidades inferiores
R. Fornons-Servent, A. Talavera-Belmonte, A. Bauer-Alonso, J. Marcoval
Servei de Dermatologia, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain
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    "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>"
    "titulo" => "Bilateral Segmental Neurofibromatosis on the Lower Limbs"
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        "titulo" => "Neurofibromatosis segmentaria bilateral en extremidades inferiores"
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Segmental neurofibromatosis &#40;NF&#41; is a rare entity characterized by neurofibromas&#44; with or without the presence of caf&#233; au lait spots&#44; distributed in either 1 or&#44; less frequently&#44; 2 or more dermatomes&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">A 55-year-old woman with no personal or family history of interest was seen at our dermatology department for multiple skin-colored papules and nodules &#40;3&#8211;15<span class="elsevierStyleHsp" style=""></span>mm in diameter&#41; with an elastic consistency that had appeared 10 years earlier and were located exclusively in the distal areas of the legs and on the feet &#40;<a class="elsevierStyleCrossRefs" href="#fig0005">Figs&#46; 1 and 2</a>&#41;&#46; Caf&#233; au lait spots&#44; axillary freckles&#44; and plexiform neurofibroma lesions were absent&#46; Two of the lesions were excised and subsequent histology confirmed the clinical suspicion of neurofibroma &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; The patient was diagnosed with bilateral segmental NF&#46; Ocular&#44; neurological&#44; and visceral involvement were ruled out&#46; The patient was monitored for 10 years&#44; during which no new lesions appeared in other areas of the body&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Segmental NF is 10 to 20 times less frequent than classical type I NF&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;3</span></a> It is caused by somatic mosaicism due to a postzygotic mutation in the <span class="elsevierStyleItalic">NF1</span> gene&#46; Therefore&#44; all cases are sporadic by definition&#46; Some familial cases have been described&#44; and can be explained by somatic and gonadal involvement due to mosaicism&#44; although there are also some cases of vertical transmission of segmental NF that this mechanism cannot adequately explain&#46; Depending on whether the mutation occurs before or after tissue differentiation&#44; the clinical phenotype of mosaicism can be generalized or localized&#44; respectively&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#8211;6</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">NF was first classified in 1982&#44; and divided into 8 subtypes&#44; of which type 5 corresponded to segmental NF&#44; defined by the presence of pigmentation disorders &#40;including caf&#233; au lait spots or axillary freckles&#41; or of neurofibromas located in a single unilateral segment of the body without crossing the midline&#44; without a family history of NF and without systemic involvement or extracutaneous lesions&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;7</span></a> Because not all patients with segmental involvement corresponded to the description of type 5 NF&#44; in 1987 Roth et al proposed a classification system for segmental NF consisting of 4 categories&#58; true segmental NF&#59; localized NF with deep involvement&#59; hereditary segmental NF&#59; and bilateral segmental NF&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2&#44;7</span></a> Yet another classification system describes 4 types of segmental NF according to the corresponding lesions&#58; pigmentation disorders only&#59; neurofibromas only&#59; pigmentation disorders with neurofibromas&#59; and isolated plexiform neurofibromas&#46;<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5&#44;6</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Bilateral segmental NF is an uncommon form of segmental NF&#44; first described by Gammel in 1931&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> In their series of 82 cases of segmental NF&#44; Hager et al<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a> found that the most frequent clinical presentation was isolated unilateral neurofibromas occupying dermatomes &#40;predominantly in the cervical region&#44; with decreasing frequency in the thoracic&#44; lumbar&#44; and sacral regions&#41;&#44; and observed bilateral involvement in 5 cases&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">A review of 15 published cases of bilateral segmental NF suggests that the most frequent clinical presentation is the exclusive presence of bilateral neurofibromas without pigmented lesions affecting the lumbar region&#44; scalp&#44; chest wall&#44; chest&#44; upper extremities&#44; and infraorbital region&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> We have not found any published cases of bilateral segmental involvement of the lower extremities&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Diagnosis of segmental NF requires a physical examination to evaluate other cutaneous manifestations of the disease and rule out generalized involvement&#44; and an ophthalmological examination to rule out the presence of Lisch nodules&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;3</span></a> Clinically&#44; the disease course is similar to that of type I NF&#44; with progressive development of pigmentation disorders and plexiform neurofibromas in childhood and neurofibromas in adulthood&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;5&#44;6</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Interestingly&#44; segmental NF is twice as common in women than men&#44; and the right side of the body is more commonly affected than the left&#46;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2&#44;3&#44;9</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">There are no specific guidelines for the treatment and follow-up of segmental NF and there is some controversy as to whether segmental NF is associated with an increase in comorbidities typical of type I NF&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> However&#44; patients should know that the absence of generalized type I NF implies a low risk of disease-related complications&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2&#44;6</span></a> Given that mosaicism can also affect the germline&#44; genetic counseling should be considered for affected individuals&#46;<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">4&#44;9</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of Interest</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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Article information
ISSN: 15782190
Original language: English
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Idiomas
Actas Dermo-Sifiliográficas
es en

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