Juvenile hyaline fibromatosis

In the second child of consanguine turkish parents (family history, pregnancy, birth, neonatal period uneventful) arthrogryposis multiplex was diagnosed at the age of 6 weeks. Despite intensive physiotherapy,the contractures did not improve. With 20 months the child presented perianal filamentous tumors, multiple subcutaneous tumors, hyperplastic gingiva, painful contractures of all extremities, a coarse face and bilateral osteolysis of the tibia. Histology of gingiva, subcutaneous and perianal tumors showed subepithelial fibrous tissue with small vessels and connective tissue cells embedded in a PAS positive matrix. Together with the clinical findings juvenile hyaline fibromatosis was diagnosed. Discussion: Only 40 cases of this autosomal recessive disorder are published so far. Life expectancy and mental development are normal. Unfortunately, the painful contractures progress and the fibromata often disturb function and appearance. Only surgical treatment of the contractures and the fibromata is available. So far,the etiology of this disease is unknown. Mucopolysaccharidoses must be excluded.