Juvenile hyaline fibromatosis: a rare oral disease case report and literature review.

ABSTRACT: Juvenile hyaline fibromatosis (JHF) is a rare recessive autosomal hereditary disorder characterized by papulonodular skin, gingival hyperplasia, flexural joint contractures, and osteolytic bone lesions. Worldwide, less than 70 cases have been reported. JHF is thought to be a disorder of collagen metabolism which is caused by genomic sequence variations in the ANTXR2/CMG2 gene and is characterized by homogenous amorphous hyaline material and fibrous tissue. JHF is most commonly diagnosed in infants and in children less than 5 years. We report a 28-month-old child of a consanguineous marriage who presented with severe gingival hyperplasia, multiple facial nodules, posterior occipital tumors, joint contractures, and osteolytic bone lesions. His limbs and fingers cannot be straightened,

SUBMITTER: Xia L 

PROVIDER: S-EPMC8649598 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature