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Camurati-Engelmann Disease.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2004 Jun 25 [updated 2015 Mar 5].



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.


Diagnosis of CED is based on physical examination and radiographic findings and can be confirmed by identification of a heterozygous pathogenic variant in TGFB1 on molecular genetic testing.


Treatment of manifestations: Treatment includes use of corticosteroids to control pain. Losartan may be a helpful adjuvant therapy to minimize the need for steroids to control pain. Pain is also managed with analgesics and non-pharmacologic methods. Bilateral myringotomy can improve conductive hearing loss resulting from serous otitis. Surveillance: Following initiation of corticosteroid treatment, blood pressure should be monitored monthly; when maintenance steroid dose is achieved, yearly evaluation includes complete neurologic examination, CBC, blood pressure, hearing screen, and bone density scan.


CED is inherited in an autosomal dominant manner. Penetrance is reduced. The incidence of de novo mutation is unknown. Each child of an individual with CED has a 50% chance of inheriting the TGFB1 pathogenic variant. Prenatal diagnosis for pregnancies at increased risk is possible for families in which the pathogenic variant has been identified.

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