Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease w ith onset in Infancy or early childhood. It is characterized by papulonodul ar skin lesions, soft tissue masses, gingival hypertrophy, and flexion cont ractures of the large joints. The light and electron microscopic features a re very distinctive. Here we report an 8-month-old boy with characteristic stiff ness of the knees and elbows and pink confluent papules on the parana sal folds, and periauricular and perianal regions. He also had hard nodules all over the scalp and around the mouth, and severe gingival hypertrophy. Histologic and ultrastructural features were typical of JHF. Clinical featu res, pathology, and physiology are discussed.