Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation,p.Arg104Cys,in WNT10A |
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| Authors: | Tzu‐Chien Hsu Julia Yu‐Yun Lee Mark Ming‐Long Hsu Sheau‐Chiou Chao |
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| Affiliation: | Department of Dermatology, National Cheng Kung University College of Medicine and Hospital, Tainan, Taiwan |
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| 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 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. |
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| Keywords: |
WNT10A
autosomal recessive ectodermal dysplasia genodermatosis tricho‐odonto‐onychodermal dysplasia |
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