Juvenile hyaline fibromatosis: two new patients and review of the literature.
We report on a sister and a brother (born to normal consanguineous parents) with joint contractures and osteolytic lesions of bones. The sister had also gingival hyperplasia and skin lesions consisting of multiple tumors of the face, nose, palate, ears, and neck. Histologic examination showed findings of juvenile hyaline fibromatosis. The literature is reviewed, and 15 cases already reported are summarized.
D002675:Child, Preschool; D003241:Consanguinity; D003286:Contracture / Q000235:genetics; D005260:Female; D005350:Fibroma / Q000235:genetics* / Q000473:pathology; D005351:Fibromatosis, Gingival / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007592:Joint Diseases / Q000235:genetics; D008297:Male; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology