has material basis in germline mutation in CYLD autosomal dominant disease Brooke-Spiegler syndrome https://github.com/monarch-initiative/mondo/issues/6739 https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6749 https://github.com/monarch-initiative/mondo/issues/8567 MEDGEN:346703 MONDO:0011512 DOID:0050693 OMIM:605041 Orphanet:79493 BRSS NCIT:C205541 SCTID:703531009 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). Brooke-Spiegler syndrome GARD:0010179 UMLS:C1857941 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. ICD9:239.2 CYLD cutaneous syndrome hereditary neoplastic syndrome obsolete rare skin tumor or hamartoma