Pathology
A Rare Sporadic Case of Camurati-Engelmann Disease With Jaw Involvement

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Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is an uncommon bone dysplasia that is inherited in an autosomal-dominant pattern. The disease mainly affects the diaphyses of the long bones but can induce sclerotic changes to the facial skeleton and skull base. The diagnosis of CED is based on clinical and radiologic features. This article presents the clinical and radiologic characteristics of the jaws as visualized on cone-beam computed tomograms of a 46-year-old woman diagnosed with CED.

Section snippets

Report of Case

In November 2015, a 46-year-old woman self-referred to the outpatient department of the oral and maxillofacial clinic because of the presence of multiple firm nodules of the maxillary labial gingiva and the hard palate. She reported that she was diagnosed with CED in 2000 and was under regular observation by a rheumatologist (Fig 1). She had no other health problems. The patient had been treated with intravenous zoledronic acid, prednisolone, and α-calcidiol since diagnosis.

Since her diagnosis,

Discussion

The average age of symptom onset is 14 years but varies from birth until 76 years. The gender incidence is equal, although men present with worse symptoms.6 There is no racial predisposition and the exact prevalence is unknown. The natural history of CED is unpredictable, because there is great variability in the expression of clinical manifestations.7 Ninety percent of patients complain of bone pain, principally at the lower limbs, which is constant, dull, and deteriorated by exertion, stress,

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    Citation Excerpt :

    Camurati-Engelmann Disease (CED), a rare autosomal dominant congenital disorder, also known as progressive diaphyseal dysplasia was first described by Camurati in 1922 and then by Engelmann in 1929 [4–9].

Conflict of Interest Disclosures: None of the authors have a relevant financial relationship(s) with a commercial interest.

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