Is Jaffe–Campanacci syndrome just a manifestation of neurofibromatosis type 1?
Article first published online: 18 AUG 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Bryan D. Hall Festschrift
Volume 123A, Issue 1, pages 60–63, November 15, 2003
How to Cite
Colby, R. S. and Saul, R. A. (2003), Is Jaffe–Campanacci syndrome just a manifestation of neurofibromatosis type 1?. Am. J. Med. Genet., 123A: 60–63. doi: 10.1002/ajmg.a.20490
- Issue published online: 6 OCT 2003
- Article first published online: 18 AUG 2003
- Manuscript Accepted: 14 JUL 2003
- Manuscript Received: 27 MAY 2003
- Jaffe–Campanacci syndrome;
- neurofibromatosis type 1;
- non-ossifying fibromas;
- Lisch nodules;
- café-au-lait spots
This article describes four patients with non-ossifying fibromas (NOFs) and multiple café-au-lait spots. Two of the patients were diagnosed with NOFs when they presented with a femur fracture. The other two patients were diagnosed with NOFs because of complaints of leg problems. In addition, axillary freckles and Lisch nodules were present in all four patients and multiple cutaneous neurofibromas in two patients. These four patients fulfilled the diagnostic criteria for neurofibromatosis type 1 (NF1) and also have been diagnosed with Jaffe–Campanacci syndrome. We propose that Jaffe–Campanacci syndrome is a manifestation of NF1 and suggest that patients with NF1 should have more rigorous radiographic screening of the long bones during early adolescence or adulthood to determine the presence or absence of NOFs. Appropriate intervention (exercise restriction, bracing, and/or surgery) might decrease the long-term disability associated with Jaffe–Campanacci syndrome. © 2003 Wiley-Liss, Inc.