[Brooke-Spiegler syndrome]

Abstract

Background: Brooke-Spiegler syndrome is an association of multiple trichoepitheliomas and cylindromas, sometimes accompanied by other adnexal tumors.

Case report: A 44-year-old woman with trichoepitheliomas involving the naso-genal and mental areas associated with cylindromas and spiradenomas on the forehead and pretragal regions creating a turban effect. Other complete or diassociated syndromes were found in family members. No neoplastic tumor was identified.

Discussion: Brooke-Spiegler syndrome is an hereditary disease with autosomal dominant transmission. Both benign and malignant neoplasias can be associated. The concomitant existence of different tumors could be helpful in understanding the pathophysiology. There is some debate about the exact origin of the trichoepitheliomas, cylindromas and spiradenomas. Several single-cause theories have been put forward but remain to be confirmed as the genetic anomalies identified for trichoepitheliomas and cylindromas map to different sites. Patients with Brooke-Spiegler syndrome should be explored for malignant neoplasia. A family study is indicated.