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juvenile hyalin fibromatosis

Monday 27 October 2003

Definition: Juvenile hyaline fibromatosis is an autosomal recessive condition that usually presents with nodular/papular skin lesions and gingival hypertrophy during the first few years of life. The skin lesions typically occur on the hands, scalp, ears, and around the nose, and require recurrent excision.

Progressive joint contractures and osteopenia are characteristic and may result in severe limitation of mobility. The diagnosis is confirmed by demonstration of hyaline deposition in the dermis

Etiology

- Juvenile hyaline fibromatosis (JHF) is caused by germline mutation in the gene encoding ANTXR2 (pr capillary morphogenesis protein-2 - CMG2) (MIM.608041) at locus 4q21

Differential diagnosis

- fibromatoses
- infantile systemic hyalinosis (15690301)