Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?

• Published in: American journal of medical genetics 2003-11, Vol.123A (1), p.60-63
• Main Authors: Colby, Randall S., Saul, Robert A.
• Format: Article
• Language: English
• Subjects: Adolescent; Biological and medical sciences; Cafe-au-Lait Spots - diagnosis; café-au-lait spots; Diagnosis, Differential; Female; Fibroma - diagnosis; Fibroma - diagnostic imaging; Humans; Jaffe-Campanacci syndrome; Lisch nodules; Male; Medical sciences; Neurofibromatosis 1 - diagnosis; neurofibromatosis type 1; non-ossifying fibromas; Ophthalmology; Radiography; Retinopathies; Syndrome
• ISSN: 1552-4825; 0148-7299; 1552-4833; 1096-8628
• DOI: 10.1002/ajmg.a.20490

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.