Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.
10.3349/ymj.2018.59.2.341
- Author:
Ji Young CHOI
1
;
Song Ee KIM
;
Sang Eun LEE
;
Soo Chan KIM
Author Information
1. Department of Dermatology, Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. kimsc@yuhs.ac
- Publication Type:Case Report
- Keywords:
Olmsted syndrome;
TRPV3;
missense mutation;
keratoderma;
pruritus
- MeSH:
Abnormalities, Multiple/*genetics;
Base Sequence;
Child, Preschool;
Female;
Heterozygote;
Humans;
Keratoderma, Palmoplantar/genetics;
Lipid Droplets/ultrastructure;
Mutation, Missense/*genetics;
Skin/pathology/ultrastructure;
Syndrome;
TRPV Cation Channels/*genetics
- From:Yonsei Medical Journal
2018;59(2):341-344
- CountryRepublic of Korea
- Language:English
-
Abstract:
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. We report a case of OS in a 3-year-old Korean girl and its underlying gene mutation. The patient presented with a disabling, bilateral palmoplantar keratoderma with onychodystrophy. She also exhibited pruritic eczematous skin lesions around her eyes, ears and gluteal fold. Genetic analysis identified a heterozygous p.Gly568Val missense mutation in the exon 13 of TRPV3. To our knowledge, this is the first case of OS in the Korean population showing a missense mutation p.Gly573Ser.
