摘要
Results Most subjects had bilateral eyelid cysts and some degree of palmoplantar keratoderma, although nail, hair, and teeth abnormalities were variably present. Bi-allelic pathogenic mutations in WNT10A were found in all seven subjects. New mutations comprised p.Glu390, p.Ser270Arg, and p.Cys362Arg; the recurrent mutations were p.Cys107∗ and p.Ala131Thr.
Conclusions This study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated. What's already known about this topic? Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia caused by mutations in WNT10A. WNT10A mutations also occur in odonto-onycho-dermal dysplasia, hypohidrotic ectodermal dysplasia and isolated hypodontia. What does this study add? Identifying new mutations in WNT10A in seven cases of SSPS expands the molecular pathology of this syndrome. Clinically, eyelid cysts provide a useful (but not absolute) clue to the underlying diagnosis of SSPS in adults, but WNT10A screening may be necessary to establish the diagnosis during childhood.
Summary Background Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A.
Objectives To document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS.
Methods Clinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A.
原文 | English |
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頁(從 - 到) | 1211-1214 |
頁數 | 4 |
期刊 | British Journal of Dermatology |
卷 | 171 |
發行號 | 5 |
DOIs | |
出版狀態 | Published - 2014 11月 1 |
All Science Journal Classification (ASJC) codes
- 皮膚科