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

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.

SUBMITTER: Zaki TD

PROVIDER: S-EPMC7903949 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

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

Zaki Theodore D TD Yoo Ki-Young KY Kassardjian Michael M Choate Keith A KA

Pediatric dermatology 20180828 6

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 erythrokeratodermi ...[more]

PMID: 30152556

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