Camurati Engelmann disease
Camurati-Engelmann Disease
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones in the body. This condition primarily affects the diaphyses, or shafts, of the long bones, leading to a variety of symptoms including pain, muscle weakness, and fatigue.
Etiology[edit | edit source]
Camurati-Engelmann disease is caused by mutations in the TGFB1 gene, which encodes the transforming growth factor-beta 1 protein. This protein plays a crucial role in bone development and remodeling. Mutations in TGFB1 lead to increased bone formation and abnormal bone remodeling, resulting in the characteristic bone thickening seen in CED.
Clinical Presentation[edit | edit source]
Patients with Camurati-Engelmann disease typically present in childhood or early adulthood with symptoms such as:
- Bone pain: Often the most prominent symptom, affecting the legs, arms, and sometimes the skull.
- Muscle weakness: Particularly in the proximal muscles, leading to difficulty in walking and other activities.
- Fatigue: Generalized tiredness and lack of energy.
- Other symptoms: Some patients may experience headaches, hearing loss, or vision problems due to skull involvement.
Diagnosis[edit | edit source]
The diagnosis of Camurati-Engelmann disease is based on clinical evaluation, family history, and radiographic findings. X-rays typically show symmetric cortical thickening of the diaphyses of long bones. Genetic testing can confirm the diagnosis by identifying mutations in the TGFB1 gene.
Treatment[edit | edit source]
There is no cure for Camurati-Engelmann disease, but treatment focuses on managing symptoms. Options include:
- Analgesics: To relieve bone pain.
- Corticosteroids: May be used to reduce inflammation and pain.
- Physical therapy: To improve muscle strength and mobility.
Prognosis[edit | edit source]
The prognosis for individuals with Camurati-Engelmann disease varies. Some patients experience mild symptoms, while others may have significant disability. The condition is progressive, but the rate of progression can vary widely among individuals.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD
