Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. [ Orphanet:79493 ]
Synonyms: CYLD cutaneous syndrome Brooke-Spiegler syndrome
Term information
- UMLS:C1857941 (Orphanet:79493/e)
- DOID:0050693 (MONDO:equivalentTo)
- OMIM:605041 (Orphanet:79493/e)
- SCTID:703531009 (MONDO:equivalentTo)
- ICD9:239.2 (MONDO:relatedTo)
- Orphanet:79493 (OMIM:605041)
- GARD:10179 (Orphanet:79493)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/6749
https://github.com/monarch-initiative/mondo/issues/6739
https://github.com/monarch-initiative/mondo/issues/6744
Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163).
https://omim.org/entry/605041
http://purl.obolibrary.org/obo/DOID_0050693
http://linkedlifedata.com/resource/umls/id/C1857941
http://www.orpha.net/ORDO/Orphanet_79493
http://identifiers.org/snomedct/703531009