Abstract
Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disorder of the connective tissue caused by mutations in the ANTXR2 gene (anthrax toxin receptor 2). It is characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, hands, feet, and face. Additional manifestations include joint contractures, osteopenia, and gingival hypertrophy.
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