Jaffe-Campanacci syndrome.
The case of a 15-year-old white boy with a clinical diagnosis of von Recklinghausen neurofibromatosis and a history of multiple fractures of long bones is presented. Radiographic studies and tissue biopsy revealed the presence of multiple nonossifying fibromas of bone. Review of the clinical features and correlation with the pathologic data support a diagnosis of Jaffe-Campanacci syndrome, a malformation syndrome different from but possibly related to von Recklinghausen neurofibromatosis.
D000293:Adolescent; D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D003937:Diagnosis, Differential; D005350:Fibroma / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000473:pathology; D010859:Pigmentation Disorders / Q000473:pathology*; D011859:Radiography; D013577:Syndrome