Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas

BrookeSpiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene CYLD with its different penetrance.
 It clinically manifested the development of multiple neoplasms skin appendages such as spiradenoma, cylindroma, spiradenocylindroma and trichoepithelioma. Several phenotypic variants have been described scientific literature. They are classic familial trichoepithelioma (multiple trichoepitheliomas without cylindromas, spiradenomas, etc.); cylindromatosis cylindromas on scalp i.e., "turban tumor"); spiradenomas or spiradenocylindromas other appendages. For four diseases associated mutations, prevalence 1/1 000 000.
 The literature describes more than 200 cases syndrome, which common women. Phenotypic manifestations mutation variable, so there no reliable statistics frequency occurrence clinical syndrome. variety appendages, commonality their histogenesis, similarity histological patterns significantly complicate diagnosis. Verification diagnosis based examination sequencing gene.