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familial cylindromatosis

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles.
Mondo Term and Equivalent IDs
MONDO:0007565:  familial cylindromatosis
GARD:0009707: 
MESH:C536611: 
NCIT:C43352: 
Orphanet:211: