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.
LEARNING POINTS: Gorham-Stout syndrome constitutes an
orphan disease with an unknown aetiology, it must be considered in young patients with
osteolysis of unknown cause.The diagnosis of Gorham-Stout syndrome is an exclusion one.Drugs with antiproliferative and antiangiogenic activity such as
mTOR inhibitors are an attractive option for the management of this disease.