Familial cylindromatosis

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.

Also Known As:

Ancell-Spiegler cylindromas; Brooke-Fordyce Trichoepitheliomas; Brooke-Spiegler syndrome; Cylindromas, Dermal Eccrine; Cylindromatosis, familial; Dermal Eccrine Cylindroma; Epithelioma adenoides cysticum of Brooke; Epithelioma, hereditary multiple benign cystic; Familial Trichoepithelioma; Hereditary Multiple Benign Cystic Epithelioma; Multiple Familial Trichoepithelioma; Spiegler-Brooke syndrome; Trichoepithelioma multiple familial; Trichoepithelioma, Multiple Familial, 1; Turban tumor syndrome; Turban tumors

Neoplasms: 1361496
- Hereditary Neoplastic Syndromes: 115
  - Familial cylindromatosis: 45
- Neoplasms by Site: 4
  - Skin Neoplasms: 9184
    - Familial cylindromatosis: 45
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hereditary Neoplastic Syndromes: 115
    - Familial cylindromatosis: 45
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Skin Neoplasms: 9184
    - Familial cylindromatosis: 45

Deborah F Macfarlane Selected Research

Deborah F Macfarlane Research Topics

Disease

Therapy/Procedure