Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV 3

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.