Abstract
Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, is a rare congenital disorder inherited in an autosomal-dominant pattern, most commonly affecting the skull and diaphysis of long tubular bones. Clinical symptoms start in early age and include ostealgia, muscle atrophy and weakness in the lower limbs, generalized fatigue in addition to gait disturbances (Garcia Armario and Lebron, 2011, Andreu-Arasa et al., 2019; Fyrgiola et al., 2017; Damiá and García Gómez, 2017; Mwasamwaja et al., 2018). CED is believed to be caused by mutation in the gene coding for Transforming Growth Factor ß-1 (TGFß-1) (Fyrgiola et al. 2017). This article presents a rare clinical case of CED, with bilaterally hypertrophic articular apparatus and subsequent ankylosis. A 33-year-old male is reported with temporomandibular joint (TMJ) ankylosis, bone pain, generalized muscle weakness, abnormal gait and bulging eyes. Diagnosis of CED was based on genetic mapping performed by genetist. Upon clinical and radiological examination, a massive bony mass in the condyloid and coronoid was discovered and treatment of choice was surgical resection and installation of bilateral stock articular prostheses.
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