Which are the causes of Camurati-Engelmann disease?

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic disorder that affects the skeletal system. It was first described by two physicians, Camurati and Engelmann, in the early 20th century. This disease is characterized by progressive thickening of the bones, particularly in the long bones of the arms and legs.

The exact causes of Camurati-Engelmann disease are still not fully understood. However, it is known to be an inherited condition, which means it is passed down from parents to their children through genetic mutations. The disease follows an autosomal dominant pattern of inheritance, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disease.

Researchers have identified mutations in the TGFβ1 gene as the primary cause of Camurati-Engelmann disease. The TGFβ1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-β1), which plays a crucial role in regulating bone growth and development. Mutations in this gene lead to the production of an abnormal TGF-β1 protein, which disrupts the normal signaling pathways involved in bone remodeling.

The abnormal TGF-β1 protein affects the osteoblasts, which are the cells responsible for bone formation. In individuals with Camurati-Engelmann disease, the osteoblasts become overactive and produce excessive amounts of bone tissue. This abnormal bone growth leads to the characteristic thickening of the bones seen in the disease.

Although the exact mechanisms are not fully understood, it is believed that the abnormal TGF-β1 protein also affects other cells and tissues in the body. It may disrupt the normal functioning of blood vessels, nerves, and muscles, contributing to the various symptoms associated with Camurati-Engelmann disease.

Signs and symptoms of Camurati-Engelmann disease can vary widely between individuals, even within the same family. The most common symptoms include:

• Pain and muscle weakness: Thickened bones can compress nerves and blood vessels, leading to pain and muscle weakness.


• Gait abnormalities: Walking difficulties may arise due to muscle weakness and bone abnormalities.


• Delayed puberty: Some individuals may experience delayed onset of puberty.


• Joint stiffness: Restricted joint movement can occur due to bone overgrowth.


• Headaches and vision problems: Thickened bones in the skull can cause headaches and vision disturbances.


• Fatigue and malaise: Generalized fatigue and a sense of unwellness may be present.

Diagnosis of Camurati-Engelmann disease involves a combination of clinical evaluation, radiographic imaging, and genetic testing. X-rays and bone scans can reveal the characteristic bone abnormalities, while genetic testing can confirm the presence of mutations in the TGFβ1 gene.

Treatment for Camurati-Engelmann disease focuses on managing the symptoms and improving quality of life. There is currently no cure for the disease. Treatment options may include:

• Pain management: Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) can help alleviate pain and reduce inflammation.


• Physical therapy: Exercises and stretching routines can help maintain muscle strength and joint flexibility.


• Bracing: In some cases, orthopedic braces or supports may be used to provide stability and support to weakened bones and joints.


• Surgical intervention: In severe cases, surgery may be necessary to relieve pressure on nerves or correct bone deformities.

It is important for individuals with Camurati-Engelmann disease to receive regular medical follow-ups to monitor disease progression and manage symptoms effectively.

In conclusion, Camurati-Engelmann disease is a rare genetic disorder characterized by progressive thickening of the bones. It is caused by mutations in the TGFβ1 gene, leading to the production of an abnormal TGF-β1 protein that disrupts bone remodeling. The disease follows an autosomal dominant pattern of inheritance. While there is no cure for Camurati-Engelmann disease, various treatment options are available to manage symptoms and improve quality of life.