Jaffe–Campanacci syndrome

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Jaffe–Campanacci syndrome
Image of Jaffe–Campanacci syndrome
Synonyms
Pronounce
Specialty	Orthopedics, Genetics
Symptoms	Café-au-lait spots, non-ossifying fibroma, skeletal dysplasia
Complications
Onset
Duration
Types
Causes	Genetic mutation
Risks
Diagnosis	Clinical diagnosis, Radiographic imaging
Differential diagnosis	Neurofibromatosis type I, McCune-Albright syndrome
Prevention
Treatment	Orthopedic surgery, Physical therapy
Medication
Prognosis
Frequency
Deaths

Jaffe–Campanacci syndrome is a rare genetic disorder characterized by multiple non-ossifying fibromas, café-au-lait spots, and other skeletal abnormalities. It is named after the American pathologist Henry L. Jaffe and the Italian pathologist Mario Campanacci, who first described the syndrome.

Clinical Features

Individuals with Jaffe–Campanacci syndrome typically present with:

• Non-ossifying fibromas: These are benign bone lesions that are commonly found in the long bones such as the femur and tibia.
• Café-au-lait spots: These are light brown skin patches that are often present at birth or develop in early childhood.
• Skeletal abnormalities: These may include scoliosis, kyphosis, and other bone deformities.
• Ocular abnormalities: Some patients may have congenital cataracts or other eye issues.
• Cardiovascular anomalies: Rarely, individuals may have heart defects.

Diagnosis

The diagnosis of Jaffe–Campanacci syndrome is primarily clinical, based on the presence of characteristic features. Imaging studies such as X-rays and MRI can help in identifying non-ossifying fibromas and other skeletal abnormalities. Genetic testing may be used to confirm the diagnosis and to differentiate it from other similar conditions.

Differential Diagnosis

Jaffe–Campanacci syndrome should be differentiated from other conditions that present with similar features, such as:

• Neurofibromatosis type I
• McCune-Albright syndrome
• Fibrous dysplasia

Management

There is no cure for Jaffe–Campanacci syndrome, and treatment is primarily supportive. Management may include:

• Regular monitoring of bone lesions and skeletal abnormalities.
• Surgical intervention for significant bone deformities or fractures.
• Ophthalmologic evaluation and management of eye issues.
• Cardiovascular assessment if heart defects are present.

Prognosis

The prognosis for individuals with Jaffe–Campanacci syndrome varies depending on the severity of the skeletal and other associated abnormalities. With appropriate management, many individuals can lead relatively normal lives.

See Also

• Non-ossifying fibroma
• Café-au-lait spot
• Scoliosis
• Neurofibromatosis type I
• McCune-Albright syndrome
• Fibrous dysplasia

External Links

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