Jaffe–Campanacci syndrome

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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[edit | edit source]

Individuals with Jaffe–Campanacci syndrome typically present with:

Diagnosis[edit | edit source]

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[edit | edit source]

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

Management[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD