Schopf-Schulz-Passarge syndrome
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Genetics
- autosomal recessive
- associated with defects in WNT10A
Clinical manifestations
- palmoplantar keratoderma beginning ~ age 12 years
- nail dystrophy
- hypodontia
- hypotrichosis
- eyelid cysts (apocrine hidrocystomas)
Complications
- syringofibroadenoma
- squamous cell carcinomas
More general terms
References
- ↑ Wikipedia: Schopf-Schulz-Passarge_syndrome https://en.wikipedia.org/wiki/Sch%C3%B6pf%E2%80%93Schulz%E2%80%93Passarge_syndrome
- ↑ Bohring A, Stamm T, Spaich C WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19559398 Free PMC Article
- ↑ Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G. Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. Acta Derm Venereol. 2008;88(6):607-12. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19002348 Free Article