Juvenile hyaline fibromatosis--a rare case report.

ABSTRACT

Fibromatosis is a group of disorders characterized by infiltrating fibroblastic proliferation. Among them Juvenile hyaline fibromatosis (J.H.F) is a rare, progressive, crippling autosomal recessive disorder diagnosed based on the characteristic clinicopathological findings of generalized cutaneous nodular lesions, gingival hypertrophy, flexion contractures of large joints with osteolytic lesions, and proliferating fibroblasts set within a hyalinized stroma. This disorder commonly manifests in childhood with family history of consanguinity and in siblings. A case of seven year old boy born to consanguinous parents is reported who presented with multiple subcutaneous nodules and gingival hypertrophy. Histopathological examination revealed proliferating fibroblasts embedded in an abundant homogeneous eosinophilic hyalinized matrix. The matrix showed PAS stain positivity, supporting the pathogenesis of this disorder as an inborn error of glycosaminoglycans metabolism. The differential diagnosis is discussed and the literature reviewed.