Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A

Tzu Chien Hsu, Julia Yu Yun Lee, Mark Ming Long Hsu, Sheau Chiou Chao

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1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)475-478
Number of pages4
JournalJournal of Dermatology
Volume45
Issue number4
DOIs
Publication statusPublished - 2018 Apr

All Science Journal Classification (ASJC) codes

  • Dermatology

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