Choi Ji Young, Kim Song Ee, Lee Sang Eun, Kim Soo Chan
Department of Dermatology, Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 2018 Mar;59(2):341-344. doi: 10.3349/ymj.2018.59.2.341.
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.
奥姆斯特德综合征（OS）是一种罕见的先天性皮肤疾病，其特征为严重的掌跖和口周角化病、脱发、甲营养不良以及严重瘙痒。最近，已确定编码参与角质形成细胞分化和增殖、毛发生长、炎症、疼痛及瘙痒的阳离子通道的瞬时受体电位香草酸亚型3基因（TRPV3）的致病性“功能获得性”突变可导致OS。由于该病罕见，OS的遗传模式仍不清楚。我们报告了一名3岁韩国女孩的OS病例及其潜在基因突变。该患者表现为致残性双侧掌跖角化病伴甲营养不良。她还在眼周、耳部和臀沟出现瘙痒性湿疹样皮肤损害。基因分析在TRPV3外显子13中鉴定出一个杂合的p.Gly568Val错义突变。据我们所知，这是韩国人群中首例显示p.Gly573Ser错义突变的OS病例。
