Camurati–Engelmann disease

Camurati–Engelmann disease (pronounced: ka-mu-ra-ti en-gel-man disease), also known as progressive diaphyseal dysplasia is a rare genetic disorder characterized by bone pain and the thickening of long bones of the body.

Etymology

The disease is named after two physicians, M. Camurati from Italy and G. Engelmann from Germany, who first described the condition in 1922 and 1929 respectively.

Symptoms

The most common symptoms of Camurati–Engelmann disease include pain in the legs, waddling gait, muscle weakness, and extreme tiredness. Other symptoms may include a decrease in muscle mass, joint contractures, and anemia.

Causes

Camurati–Engelmann disease is caused by mutations in the TGFB1 gene. This gene provides instructions for making a protein that is part of a family of proteins called transforming growth factor-beta (TGF-beta). Mutations in the TGFB1 gene lead to the production of an abnormally active TGF-beta1 protein, which results in the overgrowth of bone and the other features of Camurati-Engelmann disease.

Diagnosis

The diagnosis of Camurati–Engelmann disease is based on a clinical evaluation, detailed patient history, and specialized imaging studies. Molecular genetic testing can confirm a diagnosis.

Treatment

Treatment of Camurati–Engelmann disease is symptomatic and supportive. Physical therapy may be beneficial for some individuals. Analgesics may be necessary to manage bone pain. In some cases, surgical intervention may be necessary.

Related Terms

External links

Medical encyclopedia article on Camurati–Engelmann disease
Wikipedia's article - Camurati–Engelmann disease

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