A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.

Autor: Zaki TD; Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut., Yoo KY; Department of Dermatology, Kaiser Permanente South Bay, Harbor City, Connecticut., Kassardjian M; Coast Dermatology, Torrance, Connecticut., Choate KA; Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2018 Nov; Vol. 35 (6), pp. e414-e415. Date of Electronic Publication: 2018 Aug 28.
DOI: 10.1111/pde.13643
Abstrakt: Annular epidermolytic ichthyosis (AEI; Online Mendelian Inheritance in Man [OMIM]# 607602) is a rare subtype of epidermolytic ichthyosis that is characterized by polycyclic, migratory erythematous and scaly plaques. It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with erythrokeratodermia variabilis et progressiva (EKVP). Genetic analysis revealed a c.1436T>C transition mutation in the keratin 1 gene, and histopathology showed epidermolysis and hyperkeratosis, confirming the diagnosis of AEI.
(© 2018 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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