Diagnosis and Initial Tratment of Gorham-stout’s Disease

The Gorham-Stout’s disease, also known as massive osteolysis or evanescent bone disease; is an extremely rare disease characterized by a proliferation of intraosseous lymphatic channels causing progressive osteolysis. Usually, surgery, sclerotherapy and radiotherapy have been reserved for local and symptomatic control of the disease, while medical treatments have presented variable results that are not entirely satisfactory according to literature. The recent identification of germline-activating somatic mutations in the PIK3CA gene has opened the way to treatment with mTOR inhibitors, being Sirolimus an effective option with a low incidence of serious adverse effects. We present a patient diagnosed with GSD and treated with Sirolimus who showed clinical and radiological improvement at 8 months of follow-up.