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Juvenile Hyaline Fibromatosis

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Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease with onset in infancy or early childhood. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. The light and electron microscopic features are very distinctive. Here we report an 8-month-old boy with characteristic stiffness of the knees and elbows and pink confluent papules on the paranasal 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 features, pathology, and physiology are discussed.
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Document Type: Research Article

Affiliations: 1: Pediatric Dermatology Division, Ramos Mejia Hospital, Buenos Aires, Argentina 2: Dermatopathology Division, Piñeiro Hospital, Buenos Aires, Argentina 3: Dermatopathology Division, British Hospital, Buenos Aires, Argentina

Publication date: October 1, 2001

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