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  • Title: A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
    Author: Zaki TD, Yoo KY, Kassardjian M, Choate KA.
    Journal: Pediatr Dermatol; 2018 Nov; 35(6):e414-e415. PubMed ID: 30152556.
    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.
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