MeSH Browser

MeSH Supplementary: Fibromatosis, Congenital Generalized
Unique ID: C562978
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C562978
Entry Term(s): Myofibromatosis, Infantile; Myofibromatosis, Juvenile
Registry Number: 0
Heading Mapped to: Myofibromatosis / *congenital
Frequency: 63
Note: A rare hereditary autosomal dominant form of myofibromatiosis characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Mutations in the PDGFRB gene have been identified. OMIM: 228550
Date of Entry: 2012/11/05
Revision Date: 2015/08/18

Fibromatosis, Congenital Generalized MeSH Supplementary Concept Data 2023