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

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 f...

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Bibliographic Details
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
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Summary: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.
ISSN:0385-2407
1346-8138
DOI:10.1111/1346-8138.14201