Juvenile Hyaline Fibromatosis- Report of a Rare Case With Subcutaneous Nodules as the Sole Manifestation

Abstract

BACKGROUND Juvenile Hyaline Fibromatosis (JHF) is a rare autosomal recessive connective tissue disorder with distinct clinical and histopathological features. Approximately, 70 cases of JHF have been reported worldwide with only a handful of cases from India. Herein, we report a case of JHF in a middle-aged man whose sole presentation was multiple variably-sized painless nodules over the entire body since childhood with history of repeated surgical excision for the same. Histopathology revealed proliferation of fibroblasts lying in a background of PAS positive amorphous hyaline ground substance. The genetic basis of this disorder was recently mapped, which led to the basis of aberrant synthesis of glycosaminoglycans and disordered collagen metabolism. JHF has a relentlessly progressive course with no specific treatment available till date.