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A case of juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (JHF) is a rare, autosomally‐recessive disease characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. Its onset is in infancy or early childhood. The most commonly affected sites are the nose, chin, ears, scalp, back and knees. The accumulation of an amorphous, hyaline material is typical in the skin and the other organs. Herein, we report a 14‐month‐old boy who presented with confluent pink papules on the paranasal folds and the chin, and nodular lesions on the periauricular and perianal regions. He had gingival hypertrophy and contractures of the shoulders, knees and elbows. He also had third‐degree consanguineous parents. Histopathological studies confirmed the diagnosis of JHF with the presence of increased numbers of fibroblasts embedded in a hyalinized connective tissue stroma.