Abstract
Vascular anomalies with skeletal involvement are rare. To ameliorate diagnostics and therapy the classification of the International Society for the Study on Vascular Anomalies (ISSVA) should be applied where proliferating vascular tumours are separated from malformations, which are hereditary and do not change. Furthermore, blood and lymph vessel lesions are distinguished. In addition to isolated local or multifocal bone lesions, involvement of soft tissue and/or other organs can be observed.
Here, we report on 6 patients with lymphangiomatosis. Diagnostic workup using whole body MRI is most sensitive to detect all lesions. Localisation was the mandible (n=2), spinal column (n=4), femur (n=1), tibia (n=1), pelvis (n=1), humerus (n=1), scapula (n=1) and rips (n=1). Soft tissue involvement was observed in all patients, 1 patient showed additional lesions in the kidney and spleen, 3 patients in the lung. These 3 patients could be diagnosed with Gorham’s disease, a potentially lethal form of skeletal lymphangiomatosis, with thoracic involvement.
Next to the difficulty to find the correct diagnosis, therapy is not standardized. A major problem is the treatment of Gorham’s disease. In the literature, case reports on surgery as well as interferon alpha, chemotherapy, bisphosphonates and radiation therapy can be found. We performed surgery (n=2), radiotherapy (n= 1), polychemotherapy (n=1), bisphosphonates (n=2) and conservative therapy (n=3). One of the patients with Gorham’s disease died because of progressing pulmonary insufficiency.
It is still unclear if prophylactic therapy for skeletal involvement should be administered and which therapy is effective. An international register and a multicenter clinical trial are urgently needed.
Correspondence should be addressed to Professor Stefan Bielack, Olgahospital, Klinikum Stuttgart, Bismarkstrasse 8, D-70176 Stuttgart, Germany. Email: s.bielack@klinikum_stuttgart.de
