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Camurati–Engelmann Disease

  • Wim Van HulEmail author
  • Eveline Boudin
  • Filip M. Vanhoenacker
  • Geert Mortier
Review

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.

Keywords

Camurati–Engelmann disease TGFB-1 Progressive diaphyseal dysplasia 

Notes

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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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Medical GeneticsUniversity of Antwerp and Antwerp University HospitalAntwerpBelgium
  2. 2.Department of Medical GeneticsUniversity of AntwerpEdegemBelgium
  3. 3.AZ Sint-Maarten, Antwerp University Hospital and Ghent UniversityMechelenBelgium

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