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Schopf-Schulz-Passarge syndrome
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
General
ectodermal dysplasia
genetic syndrome (multisystem disorder)
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: 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: 19002348 Free Article