| Literature DB >> 24346896 |
Marcela Sena Teixeira Mendes1, Samara Silva Kouzak1, Thaissa Araújo Aquino1, Gustavo Henrique Soares Takano2, Antonio de Padua Lima3.
Abstract
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.Entities:
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Year: 2013 PMID: 24346896 PMCID: PMC3876022 DOI: 10.1590/abd1806-4841.20132203
Source DB: PubMed Journal: An Bras Dermatol ISSN: 0365-0596 Impact factor: 1.896