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Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease
  1. Simona D'Amore1,
  2. Navdeep Kumar2 and
  3. Uma Ramaswami1
  1. 1Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, London, UK
  2. 2Special Care Dentistry, University College London Hospitals NHS Foundation Trust, London, UK
  1. Correspondence to Dr Uma Ramaswami; uma.ramaswami{at}nhs.net

Abstract

Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease, and results from the progressive infiltration of lipid-laden cells in various organs. Common manifestations of Gaucher disease include enlarged liver and/or spleen (hepatosplenomegaly), bone marrow disease (pancytopenia) and bone abnormalities, which are extremely variable and can affect multiple skeletal sites. While bone involvement of long bones and vertebrae is a well-recognised feature of Gaucher disease, jawbone involvement is less commonly noted. Here, we describe a case of a 63-year-old patient with type 1 Gaucher disease with a history of long-term use of bisphosphonates and who had presented with dental pain, with subsequent investigations confirming the radiological features of jaw involvement in Gaucher disease, including periodontal disease.

  • lipid disorders
  • dentistry and oral medicine
  • haematology (incl blood transfusion)

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Footnotes

  • Twitter @damore_simona

  • Contributors SD was involved in literature search and drafting of the manuscript; NK was involved in patient care and drafting of manuscript; UR was involved in patient care, conceived and supervised manuscript content, and final drafting of the manuscript. All authors read and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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