Forero Saldarriaga, Santiago and Vallejo, Camilo and Urrea Pineda, Lizeth and Osma, Anderson and Bonilla Gonzalez, Carlos (2021) Gorham-Stout Disease with Clinical Response to Sirolimus Treatment. European Journal of Case Reports in Internal Medicine, 8 (8). pp. 1-4. ISSN 2284-2594
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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.
| Item Type: | Article |
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| Uncontrolled Keywords: | Gorham disease, osteolysis, sirolimus, lymphangiomatosis |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 25 Jan 2022 16:32 |
| Last Modified: | 25 Jan 2022 16:32 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21452 |
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