Brooke-Spiegler syndrome with associated pegged teeth.
The occurrence of cylindromas, trichoepitheliomas, and spiradenomas completes the triad for Brooke-Spiegler syndrome (BSS). This combination represents a rare genetic syndrome with tumors expressing adnexal differentiation. Malignant transformation is rare but reported, and surgical excision is warranted to prevent turban tumor formation of the scalp. Genetic testing is encouraged, with mutations present on the cylindromatosis gene, CYLD, locus. The occurrence of pegged teeth in our patient was most interesting, as it has not been reported in the literature in patients with BSS.
Carlson
Ryan M
RM
Oakwood Southshore Medical Center, Trenton, Michigan, USA. rcarlsondo@hotmail.com
Haddad
Lori
L
Pui
John C
JC
D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D018294:Neoplasms, Adnexal and Skin Appendage / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000209:etiology*; D025521:Tumor Suppressor Proteins / Q000235:genetics
D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD