Thelansis

  Camurati-Englemann disease (CED) is a rare genetic condition characterized by excessive bony growth affecting the long bones, skull, spine, and pelvis. Excessive growth leads to clinical symptoms such as severe pain in the extremities, joint contractures, muscle weakness, and easy fatigability. The onset of the disease is variable, with an average onset of around 13 years and almost always before 30 years of age. The symptoms can worsen with time, resulting in decreased muscle mass, joint contractures, and facial abnormalities such as frontal bossing and enlarged mandible. In some cases, the orbit involvement can lead to vision problems and hearing loss. Diagnosis of CED is based on clinical and radiographic findings and can be confirmed by genetic testing, which reveals mutations in the TGFB1 gene in over 90% of patients. Currently, there are no consensus guidelines for managing CED, and the prognosis is poor, significantly impacting the quality of life due to pain and reduced...

 Camurati-Engelmann Disease (CED) is a rare genetic condition characterized by excessive bony growth affecting the long bones, skull, spine, and pelvis. Excessive growth leads to clinical symptoms such as severe pain in the extremities, joint contractures, muscle weakness, and easy fatigability. The onset of the disease is variable, with an average onset of around 13 years and almost always before 30 years of age. The symptoms can worsen with time and result in decreased muscle mass, joint contractures, and facial abnormalities such as frontal bossing and enlarged mandible. In some cases, the orbit involvement can lead to vision problems and hearing loss. Diagnosis of CED is based on clinical and radiographic findings and can be confirmed by genetic testing, which reveals mutations in the TGFB1 gene in over 90% of patients. Currently, there are no universally agreed-upon recommendations for treating CED, and the prognosis is poor, with a significant impact on quality of life due to...