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Familial cylindromatosis MeSH Supplementary Concept Data 2026


MeSH Supplementary
Familial cylindromatosis
Unique ID
C536611
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536611
Entry Term(s)
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
Registry Numbers
0
Heading Mapped to
*Neoplastic Syndromes, Hereditary
*Skin Neoplasms
Frequency
381
Note
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
2010/11/13
Last Updated
2018/10/22
Familial cylindromatosis Preferred
Trichoepithelioma multiple familial Narrower
Brooke-Spiegler syndrome Related
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