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Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
Author(s) -
Hsu TzuChien,
Lee Julia YuYun,
Hsu Mark MingLong,
Chao SheauChiou
Publication year - 2018
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.14201
Subject(s) - ectodermal dysplasia , hypotrichosis , hypodontia , missense mutation , medicine , dysplasia , mutation , dermatology , genetics , gene , pathology , biology , dentistry
Abstract 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 WNT 10A gene. We report a 54‐year‐old Taiwanese man with SSPS resulted from a homozygous mutation (p.Arg104Cys) in WNT 10A . 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 WNT 10A gene mutation in ectodermal dysplasia and highlights the clinical features of SSPS .