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Camurati–Engelmann Disease

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Abstract

Camurati–Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant sclerosing bone dysplasia. Mainly the skull and the diaphyses of the long tubular bones are affected. Clinically, the patients suffer from bone pain, easy fatigability, and decreased muscle mass and weakness in the proximal parts of the lower limbs resulting in gait disturbances. The disease-causing mutations are located within the TGFβ-1 gene and expected to or thought to disrupt the binding between TGFβ1 and its latency-associated peptide resulting in an increased signaling of the pathway and subsequently accelerated bone turnover. In preclinical studies, it was shown that targeting the type I receptor ameliorates the high bone turnover. In patients, treatment options are currently mostly limited to corticosteroids that may relieve the pain, and improve the muscle weakness and fatigue. In this review, the clinical and radiological characteristics as well as the molecular genetics of this condition are discussed.

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Acknowledgements

Research relevant for this review was supported by a Grant from the Fonds voor Wetenschappelijk Onderzoek Vlaanderen (G031915N) to WVH. EB holds a postdoctoral Grant (12A3814N) with the research foundation Flanders (FWO Vlaanderen).

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Authors and Affiliations

  1. Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium

    Wim Van Hul, Eveline Boudin & Geert Mortier

  2. Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, 2650, Edegem, Belgium

    Wim Van Hul

  3. AZ Sint-Maarten, Antwerp University Hospital and Ghent University, Mechelen, Belgium

    Filip M. Vanhoenacker

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  1. Wim Van Hul
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  2. Eveline Boudin
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Correspondence to Wim Van Hul.

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Van Hul, W., Boudin, E., Vanhoenacker, F.M. et al. Camurati–Engelmann Disease. Calcif Tissue Int 104, 554–560 (2019). https://doi.org/10.1007/s00223-019-00532-1

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