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Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV 3
Author(s) -
Kariminejad A.,
Barzegar M.,
Abdollahimajd F.,
Pramanik R.,
McGrath J. A.
Publication year - 2014
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12318
Subject(s) - mutation , medicine , genetics , pediatrics , dermatology , biology , gene
Summary Olmsted syndrome ( OS ) is a rare congenital skin disorder characterized by palmoplantar keratoderma, periorificial hyperkeratotic lesions and alopecia. Constriction of digits, onychodystrophy and pruritus may also occur. Recently, pathogenic heterozygous mutations in TRPV 3 were identified, with most cases showing de novo dominant inheritance. We present the clinical and molecular features of OS in a 10‐year‐old Iranian boy. He had mutilating palmoplantar keratoderma, periorificial keratotic plaques, diffuse alopecia and constriction bands (pseudoainhum), which led to autoamputation of two digits. TRPV3 was sequenced and a new de novo heterozygous missense mutation, c.2076G>C (p. T rp692 C ys), was identified. This case illustrates the characteristic clinical features and complications that can present in OS , and further expands the molecular basis of this genodermatosis.