Brooke-Spiegler syndrome

Definition

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.

Also known as Brooke-Spiegler syndrome, CYLD cutaneous syndrome — per MONDO

Also identified as

• DOID 0050693 per MONDO
• ICD9 239.2 per MONDO
• NCIT C205541 per MONDO
• OMIM 605041 per MONDO
• Orphanet 79493 per MONDO
• SCTID 703531009 per MONDO
• UMLS C1857941 per MONDO

Affected Organs