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A p.478I>T KRT 1 mutation in a case of annular epidermolytic ichthyosis
Author(s) -
Zaki Theodore D.,
Yoo KiYoung,
Kassardjian Michael,
Choate Keith A.
Publication year - 2018
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13643
Subject(s) - epidermolytic hyperkeratosis , palmoplantar keratoderma , omim : online mendelian inheritance in man , ichthyosis , hyperkeratosis , dyskeratosis , keratin , dermatology , mutation , medicine , genetics , biology , pathology , gene , phenotype
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 .