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Article

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

Human mutation - 1 Dec 2018

Casas-Alba Dídac, Martínez-Monseny Antonio, Pino-Ramírez Rosa M, Alsina Laia, Castejón Esperanza, Navarro-Vilarrubí Sergi, Pérez-Dueñas Belén, Serrano Mercedes, Palau Francesc, García-Alix Alfredo

Abstract excerpt

Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the connective tissue caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2). It is characterized by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. We reviewed the...

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PMID: 30176098
DOI: 10.1002/humu.23638

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