Enchondromatosis (benign)

Enchondromatosis is a rare, benign condition characterized by the presence of multiple enchondromas - benign cartilaginous tumors that develop within the bones. This condition can affect any bone that contains cartilage, but it most commonly affects the small bones of the hands and feet.

Etiology

The exact cause of enchondromatosis is unknown. However, it is believed to be associated with mutations in the Pth1r and Idh1 genes. These mutations are thought to disrupt the normal development of cartilage, leading to the formation of enchondromas.

Symptoms

The symptoms of enchondromatosis can vary greatly from person to person. Some individuals may have no symptoms, while others may experience pain, swelling, and deformities of the affected bones. In some cases, the condition can lead to fractures and other complications.

Diagnosis

Enchondromatosis is typically diagnosed through a combination of physical examination, medical history, and imaging tests such as X-rays, MRI, and CT scan. In some cases, a biopsy may be performed to confirm the diagnosis.

Treatment

The treatment for enchondromatosis primarily involves managing the symptoms and preventing complications. This may include pain management, physical therapy, and in some cases, surgery to remove the enchondromas or correct bone deformities.

Prognosis

The prognosis for individuals with enchondromatosis is generally good. The condition is benign and does not typically affect life expectancy. However, individuals with the condition may experience a reduced quality of life due to pain and physical deformities.

See also

• Ollier disease
• Maffucci syndrome

NIH genetic and rare disease info

• NIH info on Enchondromatosis (benign)

Enchondromatosis (benign) is a rare disease.