{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:53Z","timestamp":1756339553499,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,11,8]]},"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2021-244298","type":"journal-article","created":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T11:43:48Z","timestamp":1637063028000},"page":"e244298","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5432-8808","authenticated-orcid":false,"given":"Simona","family":"D'Amore","sequence":"first","affiliation":[{"name":"Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Navdeep","family":"Kumar","sequence":"additional","affiliation":[{"name":"Special Care Dentistry, University College London Hospitals NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4703-7447","authenticated-orcid":false,"given":"Uma","family":"Ramaswami","sequence":"additional","affiliation":[{"name":"Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,11,16]]},"reference":[{"key":"2025082710160899000_14.11.e244298.1","unstructured":"Beutler E , Grabowski GA . Gaucher disease. In: Scriver CR , Beaudet AL , Sly WS , eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001: 3635\u201368."},{"key":"2025082710160899000_14.11.e244298.2","first-page":"S12","article-title":"Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher registry","volume":"90 Suppl 1","author":"Grabowski","year":"2015","journal-title":"Am J Hematol"},{"key":"2025082710160899000_14.11.e244298.3","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1002\/jbmr.3734","article-title":"Gaucher disease in bone: from pathophysiology to practice","volume":"34","author":"Hughes","year":"2019","journal-title":"J Bone Miner Res"},{"key":"2025082710160899000_14.11.e244298.4","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1988.01860140101032"},{"key":"2025082710160899000_14.11.e244298.5","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(98)90432-2"},{"key":"2025082710160899000_14.11.e244298.6","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1111\/j.1601-0825.2011.01898.x","article-title":"Mandibular and dental manifestations of Gaucher disease","volume":"18","author":"Saranjam","year":"2012","journal-title":"Oral Dis"},{"key":"2025082710160899000_14.11.e244298.7","doi-asserted-by":"publisher","DOI":"10.1259\/dmfr\/43023353"},{"key":"2025082710160899000_14.11.e244298.8","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/j.joms.2012.09.020","article-title":"Jaws features in type 1 Gaucher disease","volume":"71","author":"Zeevi","year":"2013","journal-title":"J Oral Maxillofac Surg"},{"key":"2025082710160899000_14.11.e244298.9","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s40368-019-00471-3","article-title":"Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients","volume":"21","author":"Mohamed","year":"2020","journal-title":"Eur Arch Paediatr Dent"},{"key":"2025082710160899000_14.11.e244298.10","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.1964.0034"},{"key":"2025082710160899000_14.11.e244298.11","doi-asserted-by":"publisher","DOI":"10.1038\/s41415-020-2114-5"},{"key":"2025082710160899000_14.11.e244298.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2014.04.031"},{"key":"2025082710160899000_14.11.e244298.13","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2405"},{"key":"2025082710160899000_14.11.e244298.14","doi-asserted-by":"publisher","DOI":"10.1902\/jop.2007.060341"},{"key":"2025082710160899000_14.11.e244298.15","first-page":"S183","article-title":"Manifestations of systemic diseases and conditions that affect the periodontal attachment apparatus: case definitions and diagnostic considerations","volume":"89 Suppl 1","author":"Albandar","year":"2018","journal-title":"J Periodontol"},{"key":"2025082710160899000_14.11.e244298.16","doi-asserted-by":"publisher","DOI":"10.3109\/00016357.2010.549501"},{"key":"2025082710160899000_14.11.e244298.17","unstructured":"UK Chemotherapy Board . Medication-Related osteonecrosis of the jaw. guidance for the oncology multidisciplinary team. Report of a working Party on behalf of the UK chemotherapy board. UKCB, 2019. Available: https:\/\/www.rcplondon.ac.uk\/guidelines-policy\/medication-related-osteonecrosis-jaw-guidance-oncology-multidisciplinary-team [Accessed Jul 2021]."},{"key":"2025082710160899000_14.11.e244298.18","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1680"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-244298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:16:19Z","timestamp":1756314979000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-244298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":18,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2021,11,16]]},"published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1136\/bcr-2021-244298"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-244298","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,11]]}}}