Camurati Engelmann Syndrome (CES), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by the abnormal thickening of the bones primarily in the limbs, leading to various musculoskeletal abnormalities. It is named after the Italian physician Stefano Camurati and the French physician Victor Engelmann, who initially described the syndrome.
CES is an autosomal dominant condition, meaning that an affected individual usually inherits the defective gene from one parent. The specific gene mutation associated with CES occurs on the TGFβ-1 gene, which is responsible for the production of a protein that regulates bone growth and development.
Common symptoms of Camurati Engelmann Syndrome include pain in the limbs, muscle weakness, and difficulties in physical activity. As the disorder progresses, affected individuals may experience delayed or impaired bone maturation, leading to skeletal deformities like bowing of the long bones, particularly in the lower limbs. Additionally, CES may cause other complications such as joint stiffness, limited range of motion, and even neurological problems due to nerve compression.
Diagnosis of CES involves a comprehensive evaluation of the individual's medical history, physical examination, radiological imaging, and genetic testing. Treatment options for CES aim to manage the symptoms and relieve pain. This may include the use of non-steroidal anti-inflammatory drugs (NSAIDs) to reduce pain and inflammation, physical therapy to improve muscle strength and flexibility, and surgical interventions to correct skeletal abnormalities in severe cases.
Overall, Camurati Engelmann Syndrome is a rare hereditary disorder characterized by the thickening of the bones, leading to various musculoskeletal abnormalities that can significantly impair an individual's quality of life.
