What is Jaffe–Campanacci Syndrome?
Jaffe–Campanacci Syndrome is a rare condition characterized by the presence of multiple non-ossifying fibromas (benign bone tumors), café-au-lait spots on the skin, and skeletal abnormalities. These bone lesions typically occur in the long bones, such as the femur and tibia, and can lead to bone pain, fractures, and deformities. The condition is considered a variant or subtype of neurofibromatosis type 1 (NF1), although it is not fully understood whether it is a separate disorder or part of the NF1 spectrum.
What causes Jaffe–Campanacci Syndrome?
The exact cause of Jaffe–Campanacci Syndrome is not fully known. Many researchers believe it may be related to mutations in the NF1 gene, which is also responsible for neurofibromatosis type 1. This gene helps regulate cell growth, and mutations can lead to the formation of tumors and other abnormalities.
In most cases, the condition appears sporadically, though some features may suggest a genetic basis, especially when associated with NF1.
What are the symptoms?
The symptoms and signs of Jaffe–Campanacci Syndrome can vary but often include:
- Multiple non-ossifying fibromas in long bones, usually the legs
- Frequent bone fractures due to weakened bone structure
- Bone pain or swelling
- Café-au-lait spots (light brown skin patches)
- Skeletal deformities such as bowing of the legs
- Jaw tumors or lesions in some cases
- Delayed bone healing after fractures
- In some cases, features overlapping with neurofibromatosis, like freckling in body folds or neurofibromas
How is Jaffe–Campanacci Syndrome diagnosed?
Diagnosis is based on a combination of:
- Clinical examination of bone and skin features
- X-rays or MRI scans to detect non-ossifying fibromas and skeletal changes
- Skin inspection for café-au-lait spots or other signs
- Genetic testing may be done to look for NF1 gene mutations
- Bone biopsy in uncertain cases to confirm the nature of lesions
How is it treated?
There is no cure for Jaffe–Campanacci Syndrome, so treatment focuses on managing bone lesions and preventing complications. This may include:
- Orthopedic care to monitor and manage bone growth and deformities
- Surgery to remove large or problematic fibromas or to fix fractures
- Bone strengthening therapies or physiotherapy
- Protective measures to avoid fractures in weakened bones
- Regular follow-up with orthopedic specialists and possibly genetic counselors
What is the outlook for someone with Jaffe–Campanacci Syndrome?
The long-term outlook varies depending on the number and location of bone lesions. Some people experience frequent fractures and mobility issues, while others may have milder symptoms. With appropriate medical care and monitoring, many individuals can lead active lives. Early intervention can help reduce complications.
Key facts to remember
- Rare disorder involving bone tumors and skin pigmentation
- May be related to NF1 gene mutations
- Characterized by non-ossifying fibromas and café-au-lait spots
- Can cause bone fractures, pain, and skeletal deformities
- Managed with orthopedic care and regular monitoring