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Epidermolytic Hyperkeratosis - case report

Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right fo...

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Autores principales: Hayashida, Marcos Takeyoshi, Mitsui, Grasiela Lissa, dos Reis, Natalia Ivanoff, Fantinato, Giovana, Jordão Neto, Domingos, Mercante, Ana Maria da Cunha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689080/
https://www.ncbi.nlm.nih.gov/pubmed/26734873
http://dx.doi.org/10.1590/abd1806-4841.20153966
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author Hayashida, Marcos Takeyoshi
Mitsui, Grasiela Lissa
dos Reis, Natalia Ivanoff
Fantinato, Giovana
Jordão Neto, Domingos
Mercante, Ana Maria da Cunha
author_facet Hayashida, Marcos Takeyoshi
Mitsui, Grasiela Lissa
dos Reis, Natalia Ivanoff
Fantinato, Giovana
Jordão Neto, Domingos
Mercante, Ana Maria da Cunha
author_sort Hayashida, Marcos Takeyoshi
collection PubMed
description Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.
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spelling pubmed-46890802015-12-28 Epidermolytic Hyperkeratosis - case report Hayashida, Marcos Takeyoshi Mitsui, Grasiela Lissa dos Reis, Natalia Ivanoff Fantinato, Giovana Jordão Neto, Domingos Mercante, Ana Maria da Cunha An Bras Dermatol Case Report Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities. Sociedade Brasileira de Dermatologia 2015 /pmc/articles/PMC4689080/ /pubmed/26734873 http://dx.doi.org/10.1590/abd1806-4841.20153966 Text en ©2015 by Anais Brasileiros de Dermatologia http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hayashida, Marcos Takeyoshi
Mitsui, Grasiela Lissa
dos Reis, Natalia Ivanoff
Fantinato, Giovana
Jordão Neto, Domingos
Mercante, Ana Maria da Cunha
Epidermolytic Hyperkeratosis - case report
title Epidermolytic Hyperkeratosis - case report
title_full Epidermolytic Hyperkeratosis - case report
title_fullStr Epidermolytic Hyperkeratosis - case report
title_full_unstemmed Epidermolytic Hyperkeratosis - case report
title_short Epidermolytic Hyperkeratosis - case report
title_sort epidermolytic hyperkeratosis - case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689080/
https://www.ncbi.nlm.nih.gov/pubmed/26734873
http://dx.doi.org/10.1590/abd1806-4841.20153966
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