| H00781 | |
| H number | H00781 |
| Name | Schopf-Schulz-Passarge syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis |
| Description | Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | WNT10A [HSA:80326] [KO:K01357] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | WNT10A mutations also underlie odonto-onycho-dermal dysplasia (H00646). |
| Other DBs | ICD-11: LD27.0Y ICD-10: Q82.8 MeSH: C565607 OMIM: 224750 |
| Reference | PMID:19002348 AUTHORS Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G TITLE Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. JOURNAL Acta Derm Venereol 88:607-12 (2008) DOI:10.2340/00015555-0547 PMID:21143469 AUTHORS Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G TITLE Two families confirm Schopf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. JOURNAL Clin Genet 79:92-5 (2011) DOI:10.1111/j.1399-0004.2010.01513.x PMID:21834823 AUTHORS Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA TITLE Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. JOURNAL Australas J Dermatol 52:224-6 (2011) DOI:10.1111/j.1440-0960.2011.00788.x |