Jaffe-Campanacci Syndrome: A Case Report and Review of Literature.

Abstract

Jaffe-Campanacci syndrome is characterized by multiple nonossifying fibromas and multiple cutaneous cafe-au-lait spots without accompanying neurofibromas. To the best of our knowledge, the syndrome was first reported in 1958 by Jaffe1; in 1983, Campanacci et al.2 described ten cases. Because of the presence of cafe-au-lait spots, several authors1-4 have studied the relationship between Jaffe-Campanacci syndrome and neurofibromatosis. The occurrence of multiple nonossifying fibromas, a prominent feature of Jaffe-Campanacci syndrome, suggests that the syndrome should be considered distinctive from neurofibromatosis. To the best of our knowledge, only eighteen cases of Jaffe-Campanacci syndrome have been reported in the English-language literature1-3,5-9. We present a case in a young girl with lateralized skin and bone lesions. The patient and her parents were informed that data concerning her case would be submitted for publication, and they provided consent. Because of the presence of multiple cafe-au-lait spots, a two-year-old Chinese girl had been diagnosed with type-1 neurofibromatosis. At the age of six years, she had presented with pain over the right knee and right shoulder. Radiographs showed lytic changes in the proximal part of the right humerus, the distal part of the right radius, and the distal part of the right femur. Curettage and bone-grafting had been performed in the right humerus and right femur in a local hospital. The histological findings at that time are not known. At the age of ten years, the patient …