Familial dermal eccrine cylindromatosis with emphasis on histology and genetic mapping

Abstract

Familial cylindromatosis (FC) is an autosomal dominant disorder with apparently complete penetrance, but variable expression. There is an increasing evidence that FC is clinically, genetically, and histologically heterogeneous disorder as the simultaneous occurrence of cylindromas and other tumors of skin appendages within the affected individuals and families. The presence of multiple scalp cylindromas is often associated with autosomal dominant Brooke-Spielger syndrome, a condition in which there are co-existent facial trichoepitheliomas and spiradenomas. We present here a case of multiple cylindromatosis in a family affecting many members successively.