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

OpenAlex İngilizce

Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling. Radiographs revealed NOFs in the distal femur and proximal tibia. Surgery was performed, and pathological analysis confirmed NOFs, while genetic testing revealed a pathogenic NF1 mutation. JCS remains a poorly defined syndrome, with ongoing debate about its distinction from NF1. Surgical intervention is often necessary due to the high risk of pathological fractures in patients with large NOFs. This case supports the association between JCS and NF1 and highlights the importance of genetic testing in differential diagnosis. This case report also provides a brief literature discussion on the very rare syndrome JCS.