JAFFE-CAMPANACCI SYNDROME

Abstract

In 1942, Jaffe and Lichtenstein1 first described nonosteogenic fibroma (now known as nonossifying fibroma) of bone as a frequently encountered benign fibrous lesion of the long bones. In 1958, Jaffe2 subsequently described a rarely seen clinical entity in which multiple nonossifying fibromas occurred in association with cafe-au-lait spots and axillary freckling, but without accompanying neurofibromas. Jaffe suggested that the disorder was an unusual form of neurofibromatosis. In a subsequent report of the same findings-that is, multiple nonossifying fibromas and cafe-au-lait spots-Holt3 suggested that they were incidental and unrelated. Schwartz and Ramos4 attributed the two sets of findings to a syndrome called diffuse mesodermal dysplasia, but the name was never adopted. Several isolated cases of this unusual clinical presentation were reported by Mandell et al.5 and Pitcock6. In 1983, Campanacci et al.7 reported on ten patients with nonossifying fibromas associated with some features of neurofibromatosis and expressed the opinion that these cases represented a new syndrome. Mirra et al.8 reported on a patient with similar symptoms in 1982 and, on the basis of their knowledge of the large series reported on later by Campanacci et al., designated the syndrome as Jaffe-Campanacci syndrome. Since then, the syndrome has been widely accepted as a unique clinical entity, but very few cases have been reported in the English-language literature7,9-13. A fifteen-year-old boy was referred to the Massachusetts General Hospital Orthopaedic Oncology Service with a pathologic fracture of the distal part of the left femur. He had been diagnosed previously as having neurofibromatosis on the basis of a number of skin findings. The patient had had two previous surgical procedures consisting of curettage and bone graft packing for lesions in the distal parts …