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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Bibliographic Details
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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Summary: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.
ISSN:0365-0596
1806-4841
1806-4841
0365-0596
DOI:10.1590/abd1806-4841.20132203