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Mosaic epidermolytic ichthyosis--case report

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis o...

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Published in:	Anais brasileiros de dermatología 2013-12, Vol.88 (6 Suppl 1), p.116-119
Main Authors:	Mendes, Marcela Sena Teixeira, Kouzak, Samara Silva, Aquino, Thaissa Araújo, Takano, Gustavo Henrique Soares, Lima, Antonio de Padua
Format:	Article
Language:	English
Subjects:	Adult Biopsy Case Report DERMATOLOGY Female Humans Hyperkeratosis, epidermolytic Hyperkeratosis, Epidermolytic - genetics Hyperkeratosis, Epidermolytic - pathology Ichthyosis Keratins - genetics Mosaicism Mutation
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container_title	Anais brasileiros de dermatología
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creator	Mendes, Marcela Sena Teixeira Kouzak, Samara Silva Aquino, Thaissa Araújo Takano, Gustavo Henrique Soares Lima, Antonio de Padua
description	Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.
doi_str_mv	10.1590/abd1806-4841.20132203
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source	SciELO Brazil; PubMed Central
subjects	Adult Biopsy Case Report DERMATOLOGY Female Humans Hyperkeratosis, epidermolytic Hyperkeratosis, Epidermolytic - genetics Hyperkeratosis, Epidermolytic - pathology Ichthyosis Keratins - genetics Mosaicism Mutation
title	Mosaic epidermolytic ichthyosis--case report
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