Gorham-Stout syndrome in mainland China: a case series of 67 patients and review of the literature

Abstract

Abstract:Objective: Gorham-Stout syndrome (GSS) is a rare disorder of uncertain etiology and unpredictable prognosis. This study aims to present a comprehensive understanding of this rare entity. Methods: A literature search in PubMed and three Chinese databases was performed to screen histologically proven GSS cases among Chinese residents in the mainland. We analyzed the patients' clinical characteristics, the value of different treatment modalities and their influence on the clinical outcome. Results: Sixty-seven cases were finally enrolled. There were 43 men (64.2%) and 24 women (35.8%). The mean age at diagnosis was 28 years (1.5-71 years). The most common clinical symptoms included pain (n=40, 59.7%), functional impairment (n=13, 19.4%), and swelling (n=12, 17.9%). The radiographic presentation of 37 cases (55.2%) was disappearance of a portion of the bone. The others presented as radiolucent foci in the intramedullary or subcortical regions. A total of 42 cases provided data on therapy, these included surgery (n=27, 40.3%), radiation therapy (n=6, 9.0%), surgery combined with radiation therapy (n=2, 3.0%), and medicine therapy (n=7, 10.4%). For 30 of these 42 cases, follow-up data were available: 21 cases had the disorder locally controlled and 9 had a symptom progression. Fortunately, the disease is not fatal in the majority of cases. Conclusions: GSS has no specific symptoms and it should be taken into consideration when an unclear massive osteolysis occurs. The efficacies of different treatment modalities are still unpredictable and further research is required to assess the values of different treatments.

Vanishing bone disease (Gorham-Stout syndrome): A review of a rare entity

“…As a general rule, the persons that suffer from the disease are younger than 40-year-old [16] , while an epidemiologic correlation with race, gender and geography does not seem to exist [9,[17][18][19] . However, some authors noticed a clear "predilection" of the disease in males [20] . Gorham-Stout syndrome is met in a large spectrum of bones, but the majority of case reports refer to the maxillofacial region and the upper extremity [16] .…”

“…Gorham-Stout syndrome is met in a large spectrum of bones, but the majority of case reports refer to the maxillofacial region and the upper extremity [16] . Nevertheless, Hu et al [20] recently reported a case series, in which the femur was the predominant affected bone.…”

“…Vanishing bone disease is a rare entity characterized by destruction of osseous matrix and proliferation of vascular structures with benign origin [1] . Despite the extensive investigation of the pathogenetic mechanisms of the disease, its etiology hasn't been clarified.…”

Presentación atípica del síndrome de Gorham-Stout. Caso clínico

“…Además de las lesiones osteolíticas, concomitantemente, se puede presentar linfangiomatosis, que causa quilotórax, quiloperitoneo o quiloascitis y lesiones quísticas en órganos viscerales, especialmente en el bazo. 7 Los criterios diagnósticos son los siguientes: a) biopsia positiva; b) ausencia de atipia celular; c) mínima o nula respuesta osteoblástica y ausencia de calcificación distrófica; d) evidencia de resorción ósea progresiva; e) lesiones no expansivas y no ulcerativas; f) ausencia de afectación visceral; g) patrón osetolítico radiográfico; h) sin causa hereditaria, metabólica, inmunológica o infecciosa. 7 El tratamiento no es curativo e incluye la radioterapia, medicación antiosteoclástica e interferón alfa-2b.…”

“…7 Los criterios diagnósticos son los siguientes: a) biopsia positiva; b) ausencia de atipia celular; c) mínima o nula respuesta osteoblástica y ausencia de calcificación distrófica; d) evidencia de resorción ósea progresiva; e) lesiones no expansivas y no ulcerativas; f) ausencia de afectación visceral; g) patrón osetolítico radiográfico; h) sin causa hereditaria, metabólica, inmunológica o infecciosa. 7 El tratamiento no es curativo e incluye la radioterapia, medicación antiosteoclástica e interferón alfa-2b. La radioterapia es la terapia más efectiva al reducir la progresión de la enfermedad en un 77-80% de los casos.…”