Camurati-Engelmann disease
Overview
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, severe limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
Symptoms
Patients typically have heavily-thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, sometimes leading to sensory deficits such as blindness, or deafness.
Diagnosis
Diagnosis of CED is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. Bone and muscle histology are nonspecific. TGFB1 is the only gene known to be associated with CED. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available.
Treatment
Treatment of CED includes corticosteroids and losartan. Pain is managed with analgesics and non-pharmacologic methods. Bilateral myringotomy can improve conductive hearing loss resulting from serous otitis. Following initiation of corticosteroid treatment, blood pressure should be monitored monthly; when maintenance steroid dose is achieved, yearly evaluation includes complete neurologic examination, CBC count, blood pressure, and hearing screen.