Gorham-Stout Disease with Clinical Response to Sirolimus Treatment

  • Santiago Forero Saldarriaga Internal Medicine Department, Fundación Universitaria Sanitas, Bogotà, Colombia
  • Camilo Vallejo Internal Medicine Department, Universidad de Antioquia, Medellìn, Colombia
  • Lizeth Urrea Pineda Internal Medicine Department, Universidad de Antioquia, Medellìn, Colombia
  • Anderson Osma Clinical Oncology, National Cancer Institute, Bogotà, Colombia
  • Carlos Bonilla Gonzalez Clinical Oncology, National Cancer Institute, Bogotà, Colombia

Keywords

Gorham disease, osteolysis, sirolimus, lymphangiomatosis

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.

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  • Published: 2021-08-05

    Issue: 2021: Vol 8 No 8 (view)

    Section: Articles

    How to cite:
    1.
    Forero Saldarriaga S, Vallejo C, Urrea Pineda L, Osma A, Bonilla Gonzalez C. Gorham-Stout Disease with Clinical Response to Sirolimus Treatment. EJCRIM 2021;8 doi:10.12890/2021_002740.