50 - Jaffee-Campanacci syndrome (JCS)

The association of multiple non-ossifying fibromas with cafe au lait skin patches has been named Jaffee-Campanacci syndrome (JCS).

This rare syndrome has a wide range of manifestations, some cases are very mild, consisting only of a few pigmented skin patches and benign non-ossifying fibroma (NOF) bone tumors The author has seen cases with multiple skin patches and multiple or solitary NOF's where no other abnormality is present. Reports in the literature focus on more severe cases which demonstrate cryptorchism, hypogonadism, ocular abnormalities, alopecia, cardiovascular abnormalities, renal abnormalities, mental retardation, and other serious problems.

There is no clear-cut pattern of inheritance. Patients affected with this syndrome normally have no family history of similar problems. The cause is unknown. It is presumed that there is an underlying abnormality of the patient's chromosomes.

Most patients reported age from five to 15 years, and boys are more often affected than girls. The tumors affect the long bones such as the femur, the humerus, and the tibia as well as the bones of the jaw. Other bones can be involved such as the pelvis, the fibula, the radius, and the ulna. The lesions may be large and can cause pathological fracture of the involved bone.

The skin lesions are cafe au lait patches, which are brown to dark brown and usually found on the trunk. Not all patients with this syndrome have skin patches. Most of the patches had a smooth border. Cafe au lait patches with complex border can also be found. The cutaneous features of neurofibromatosis (NF), such as angiomas and neurofibromas, may also be present. There may be axillary freckling. Recent findings suggest that JCS may be a form of NF. Patients with suspected JCS should be screened for NF.

Radiologically and pathologically, the features of non-ossified fibroma in this syndrome are identical to those in normal non-ossified fibromas. The lesions may be larger and they are multiple.

As with most benign bone tumors, there have been reports of malignant transformation of non-ossifying fibromas. Therefore, there is a very small, theoretical risk of malignant transformation in these patients. It is the authors believe that surgical treatment of these lesions merely to reduce the theoretical risk of malignant transformation is not warranted.

Treatment of Jaffee Campanacci syndrome should consist of establishment of the diagnosis, if necessary, followed by an assessment of the known bone lesions. The author of this site does not feel that it is necessary to perform a general survey for all possible bone lesions in every case, but any symptomatic area should be imaged. Long bones are the most likely sites and the evaluation should include singel AP view of the femurs, tibias if large lesions are seen. Risk of pathological fracture should be assessed in a systematic fashion, as is detailed elsewhere in this web site. Early bracing, activity restriction, and surgical stabilization may reduce the deformity and disability in severe cases. Biopsy of these lesions is not usually required for diagnosis. Stabilization for risk of pathological fracture or actual pathological fracture is definitely indicated.