Anais Brasileiros de Dermatologia | |
Mosaic epidermolytic ichthyosis - case report | |
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】
CC BY-NC
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