Familial cylindromatosis [Supplementary Concept]
Familial cylindromatosis (OMIM: 132700), Brooke-Spiegler syndrome (BRSS) (OMIM: 605041), and multiple familial trichoepithelioma 1 (MFT1) (OMIM: 601606) were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage neoplasms including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity. All are caused by mutations in the CYLD gene.
Date introduced: November 13, 2010
MeSH Unique ID: C536611
Heading Mapped to:
Entry Terms:
- Turban tumor syndrome
- Ancell-Spiegler cylindromas
- Cylindromas, Dermal Eccrine
- Dermal Eccrine Cylindroma
- Familial Trichoepithelioma
- Cylindromatosis, familial
- Turban tumors
- Trichoepithelioma multiple familial
- Epithelioma adenoides cysticum of Brooke
- Epithelioma, hereditary multiple benign cystic
- Trichoepithelioma, Multiple Familial, 1
- Brooke-Fordyce Trichoepitheliomas
- Multiple Familial Trichoepithelioma
- Hereditary Multiple Benign Cystic Epithelioma
- Brooke-Spiegler syndrome
- Spiegler-Brooke syndrome