Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A

The document describes a case of Schöpf-Schulz-Passarge syndrome (SSPS) in a 54-year-old Taiwanese man caused by a previously unreported homozygous mutation (p.Arg104Cys) in the WNT10A gene. The patient displayed typical SSPS symptoms such as eyelid cysts, hypodontia, hypotrichosis, palmoplantar keratosis, and onychodystrophy. The study emphasizes the role of WNT10A mutations in ectodermal dysplasia and the clinical manifestation of SSPS. The same mutation was identified in the patient's mother and brother, who were heterozygous carriers, indicating a genetic link. This case adds to the genetic understanding of SSPS and the range of ectodermal dysplasias related to WNT10A mutations, with implications for genetic counseling and clinical management of the condition.