摘要
Schöpf–Schulz–Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by cysts of the eyelids, hypodontia, hypotrichosis, palmoplantar keratosis and onychodystrophy, and it is not common in Asia according to the published work. This autosomal recessive disorder was believed to result from mutations in the WNT10A gene. We report a 54-year-old Taiwanese man with SSPS resulted from a homozygous mutation (p.Arg104Cys) in WNT10A. This mutation has not been reported in odonto-onycho-dermal dysplasia but was demonstrated to link with dental abnormalities. This report implies the significance of WNT10A gene mutation in ectodermal dysplasia and highlights the clinical features of SSPS.
原文 | English |
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頁(從 - 到) | 475-478 |
頁數 | 4 |
期刊 | Journal of Dermatology |
卷 | 45 |
發行號 | 4 |
DOIs | |
出版狀態 | Published - 2018 4月 |
All Science Journal Classification (ASJC) codes
- 皮膚科