Case report of syndromic multiple spiradenomas due to biallelic functional loss of CYLD

Multiple spiradenomas may arise in the setting of Brooke-Spiegler syndrome, due to mutations in CYLD gene; however, the genetic basis of multiple spiradenomas, without the presence of other adnexal tumors, has not been previously reported. In addition to Brooke-Spiegler syndrome (OMIM #605041), 2 other recognized cutaneous phenotypes are associated with CYLD mutations: Familial cylindromatosis (OMIM #132700) and multiple familial trichoepitheliomas (OMIM #601606). These CYLD cutaneous syndromes manifest exclusively as multiple cylindromas or trichoepitheliomas, respectively.