Juvenile hyaline fibromatosis

ABSTRACT

Juvenile hyaline fibromatosis is a rare, autosomal recessive disease. We report a 4-year-old female born of first-degree consanguineous marriage, presenting with gingival hyperplasia, nodular swellings involving the both pinna and right ankle joint. She had contractures of elbows, knees and shoulder joints, restricting the movements of these joints. Cutaneous examination revealed erythematous papules and plaques involving the nape of neck and the perianal region. Histological examination revealed deposition of PAS positive amorphous eosinophilic hyaline material with scattered intervening fibroblast like cells resembling chondroid cells. The patient was diagnosed as a case of Juvenile hyaline fibromatosis based on characteristic clinical and histopathological findings: