Mosaic epidermolytic ichthyosis - case report

Anais Brasileiros de Dermatologia

Marcela Sena Teixeira Mendes¹  Samara Silva Kouzak¹  Thaissa Araújo Aquino¹  Gustavo Henrique Soares Takano¹  Antonio De Padua Lima¹ 

关键词: Hyperkeratosis;    epidermolytic;    Ichthyosis;    Mosaicism;    Hiperceratose epidermolítica;    Ictiose;    Mosaicismo;   

DOI  :  10.1590/abd1806-4841.20132203

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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