{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T06:29:37Z","timestamp":1781332177267,"version":"3.54.1"},"reference-count":6,"publisher":"SMC Media","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Gorham-Stout disease (GSD) is a rare clinical entity of unknown aetiology, with osseous resorption, vascular structure proliferation and inflammation of adjacent soft tissues. The clinical spectrum varies from asymptomatic patients to patients with pain, functional limitation or deformity. GSD may affect 1 or multiple bones in any location; however, predilection for the maxillofacial area and upper limbs has been described. We present the case report of a 33-year-old male patient with facial pain and loss of dental pieces; imaging showed extensive lytic involvement of the mandible and cranial bones. After exclusion of malignant, metabolic, infectious, or autoimmune disease, a diagnosis of GSD was made. Treatment with sirolimus was prescribed, achieving a symptomatic improvement and stability of imaging findings. The importance of the knowledge of this orphan disease is highlighted, to achieve a prompt diagnosis and medical treatment.<\/jats:p>","DOI":"10.12890\/2021_002740","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T03:32:14Z","timestamp":1628220734000},"source":"Crossref","is-referenced-by-count":3,"title":["Gorham-Stout Disease with Clinical Response to Sirolimus Treatment"],"prefix":"10.12890","volume":"8","author":[{"given":"Santiago","family":"Forero Saldarriaga","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Fundaci\u00f3n Universitaria Sanitas, Bogot\u00e0, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilo","family":"Vallejo","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Universidad de Antioquia, Medell\u00ecn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lizeth","family":"Urrea Pineda","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Universidad de Antioquia, Medell\u00ecn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anderson","family":"Osma","sequence":"additional","affiliation":[{"name":"Clinical Oncology, National Cancer Institute, Bogot\u00e0, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Bonilla Gonzalez","sequence":"additional","affiliation":[{"name":"Clinical Oncology, National Cancer Institute, Bogot\u00e0, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2021,8,5]]},"reference":[{"key":"10.12890\/2021_002740_ref1","unstructured":"
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  1. Nikolaou VS, Chytas D, Korres D, Efstathopoulos N. Vanishing bone disease (Gorham-Stout syndrome): a review of a rare entity. World J Orthop<\/em> 2014;5<\/strong>(5):694\u2013698.<\/li>","DOI":"10.5312\/wjo.v5.i5.694"},{"key":"10.12890\/2021_002740_ref3","doi-asserted-by":"crossref","unstructured":"
  2. SKeyser CE, Saltzherr MS, Bos EM, Zillikens MC. A large skull defect due to Gorham-Stout disease: case report and literature review on pathogenesis, diagnosis, and treatment. Front Endocrinol (Lausanne)<\/em> 2020;11<\/strong>:37. <\/li>","DOI":"10.3389\/fendo.2020.00037"},{"key":"10.12890\/2021_002740_ref4","doi-asserted-by":"crossref","unstructured":"
  3. Heffez L, Doku HC, Carter BL, Feeney JE. Perspectives on massive osteolysis. Report of a case and review of the literature. Oral Surg Oral Med Oral Pathol <\/em> 1983;55<\/strong>(4):331\u2013343. <\/li>","DOI":"10.1016\/0030-4220(83)90185-8"},{"key":"10.12890\/2021_002740_ref5","doi-asserted-by":"crossref","unstructured":"
  4. Freixo C, Ferreira V, Martins J, Almeida R, Caldeira D, Rosa M, et al. Efficacy and safety of sirolimus in the treatment of vascular anomalies: a systematic review. J Vasc Surg<\/em> 2020;71<\/strong>(1):318\u2013327. <\/li>","DOI":"10.1016\/j.jvs.2019.06.217"},{"key":"10.12890\/2021_002740_ref6","unstructured":"
  5. Fares MY, Fares J, Fares Y, Abboud JA. Gorham-Stout disease of the shoulder: clinical, pathologic and therapeutic considerations. Arch Bone Jt Surg<\/em> 2020;8<\/strong>(1):58\u201369."}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2740\/2793","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2740\/2794","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2740\/2794","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T13:33:56Z","timestamp":1756128836000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/2740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,5]]},"references-count":6,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.12890\/2021_002740","relation":{"has-manifestation":[{"id-type":"other","id":"1-74-2740-g2793","asserted-by":"subject"},{"id-type":"other","id":"1-74-2740-g2794","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-74","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,5]]},"article-number":"15"}}