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

• Published in: Journal of dermatology 2018-04, Vol.45 (4), p.475-478
• Main Authors: Hsu, Tzu‐Chien, Lee, Julia Yu‐Yun, Hsu, Mark Ming‐Long, Chao, Sheau‐Chiou
• Format: Article
• Language: English
• Subjects: Anodontia - diagnosis; Anodontia - genetics; Anodontia - pathology; autosomal recessive; Biopsy; Case reports; Cysts; Dysplasia; Eccrine Glands - abnormalities; Eccrine Glands - pathology; ectodermal dysplasia; Eyelid Neoplasms - diagnosis; Eyelid Neoplasms - genetics; Eyelid Neoplasms - pathology; genodermatosis; Hereditary diseases; Homozygote; Humans; Hypotrichosis - diagnosis; Hypotrichosis - genetics; Hypotrichosis - pathology; Keratoderma, Palmoplantar - diagnosis; Keratoderma, Palmoplantar - genetics; Keratoderma, Palmoplantar - pathology; Keratosis; Male; Middle Aged; Missense mutation; Mutation; Mutation, Missense; Pedigree; Point mutation; Skin; Skin - pathology; Taiwan; tricho‐odonto‐onychodermal dysplasia; Wnt Proteins - genetics; WNT10A
• ISSN: 0385-2407; 1346-8138
• DOI: 10.1111/1346-8138.14201

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.