Brooke-Spiegler syndrome with associated pegged teeth.

Cutis; cutaneous medicine for the practitioner

PubMedID: 19090338

Carlson RM, Haddad L, Pui JC. Brooke-Spiegler syndrome with associated pegged teeth. Cutis. 2008;82(5):345-9.
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.