Work

A p.478I>T KRT 1 mutation in a case of annular epidermolytic ichthyosis

Year: 2018

Type: article

Abstract: 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.

Source: Pediatric Dermatology

DOI: 10.1111/pde.13643

Authors: Theodore D. Zaki, Ki‐Young Yoo, Michael Kassardjian, Keith A. Choate

Institutions: Yale University, Kaiser Permanente

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases