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Juvenile hyaline fibromatosis: an unusual clinical presentation

Abstract

Juvenile hyaline fibromatosis is a recessive autosomal hereditary disorder characterized by abnormal growth of hyalinized fibrous tissue. Its clinical presentation is marked by tumors of the skin, bone lesions, joint contractures, and gingival hyperplasia. We report a localized form of juvenile hyaline fibromatosis, a rare disease with several cases reported in the worldwide literature. A 23-year-old man presented with multiple tumors, joint contractures, and osteolytic bone lesions, but without gingival hyperplasia in one year of follow-up. Although, the onset of this condition is commonly in early childhood with progression, his unusual clinical presentation began at eight years of age with late progression in adolescence.

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