Epidermolytic Hyperkeratosis - case report*

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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Main Authors: Hayashida, Marcos Takeyoshi, Mitsui, Grasiela Lissa, dos Reis, Natalia Ivanoff, Fantinato, Giovana, Jordão Neto, Domingos, Mercante, Ana Maria da Cunha
Format: Online
Language:English
Published: Sociedade Brasileira de Dermatologia 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689080/
id pubmed-4689080
recordtype oai_dc
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 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.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Hayashida, Marcos Takeyoshi
Mitsui, Grasiela Lissa
dos Reis, Natalia Ivanoff
Fantinato, Giovana
Jordão Neto, Domingos
Mercante, Ana Maria da Cunha
spellingShingle Hayashida, Marcos Takeyoshi
Mitsui, Grasiela Lissa
dos Reis, Natalia Ivanoff
Fantinato, Giovana
Jordão Neto, Domingos
Mercante, Ana Maria da Cunha
Epidermolytic Hyperkeratosis - case report*
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
title Epidermolytic Hyperkeratosis - case report*
title_short Epidermolytic Hyperkeratosis - case report*
title_full Epidermolytic Hyperkeratosis - case report*
title_fullStr Epidermolytic Hyperkeratosis - case report*
title_full_unstemmed Epidermolytic Hyperkeratosis - case report*
title_sort epidermolytic hyperkeratosis - case report*
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.
publisher Sociedade Brasileira de Dermatologia
publishDate 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689080/
_version_ 1613516028752429056

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