Diagnosing Camurati–Engelmann disease—the age of whole-exome sequencing

D. Nagra et al. (2022) Rheumatology (Oxford), keac670.

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Camurati–Engelmann disease, an autosomal dominant disorder first described in 1920, is caused by mutations in the Transforming Growth Factor Beta 1 gene, resulting in sclerotic bone disease.  The disease presents in childhood, most commonly with limb pain, fatigue and a waddling gait. The pattern of sclerosis is different to that seen in other conditions, such as malignancy or metastasis, as the sclerosis is not patchy but instead involves the entirety of the bone.

We present a 56-year-old male who has been under our care for multisystem sarcoidosis diagnosed 17 years ago, with disease distribution including cutaneous, pulmonary, bone and ocular lesions. The diagnosis was confirmed with histological evidence of granulomatous inflammation on lymph node biopsy. He was medicated with HCQ 200 mg once daily and MTX 15 mg once weekly, having previously received treatment with MMF and AZA. His immune modulation had been under review, with consideration of a TNFα inhibitor, due to persistent bone pain that was thought to be attributable to active sarcoidosis. The bone pain had first been noted 10 years previously, with progressive worsening subsequently. The original diagnosis of sarcoid bone involvement was based upon radiographs demonstrating multifocal sclerotic lesions in his pelvis, proximal and distal femora, and radius