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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 341 - 344 (4page)
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초록· 키워드
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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 potentialvanilloid 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.
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참고문헌 (16)
참고문헌 신청
Olmsted HC / 1927 / Keratodermia palmaris et plantaris congenitalis: report of a case showing associated lesions of unusual location / Am J Dis Child 33:757~764
Atherton DJ / 1990 / Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted’s syndrome) / Br J Dermatol 122:245~252
Duchatelet S / 2015 / Olmsted syndrome: clinical, molecular and therapeutic aspects / Orphanet J Rare Dis 10:33
Lin Z / 2012 / Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome / Am J Hum Genet 90:558~564
He Y / 2015 / A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family / J Invest Dermatol 135:907~909
Atherton DJ / 1990 / Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted’s syndrome) / Br J Dermatol 122:245~252
Duchatelet S / 2015 / Olmsted syndrome: clinical, molecular and therapeutic aspects / Orphanet J Rare Dis 10:33
Lin Z / 2012 / Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome / Am J Hum Genet 90:558~564
He Y / 2015 / A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family / J Invest Dermatol 135:907~909
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