Abstract
Gorham syndrome is a rare disease of unknown cause. It is characterized by the massive bone destruction associated to bone angiomatosis. It was first described by Jackson in 1838. Gorham and Stout published their initial report in the fifth decade of the last century. The diagnosis depends on the exclusion of other diseases that cause bone lysis. The treatment has no uniformity between the oncologists, and different modalities of therapeutic procedures are being used as radiotherapy, biphosphonates, interferon and surgery.
This case reports a man, 44 years old, caucasian farmer that had a progressive pain in the left groin one year ago. The pain was getting worst and migrated to the left hip. A pelvis X-ray revealed isquiatic lysis with total disappearing of the bone. The left hip presented diffuse lytic areas too. The clinical profile of the patient was good and it was discrepant when compared to the X-rays with bone destruction.The investigation was done with bone scintilography, MRI of the pelvis, computed tomography (CT) of abdomen and chest, blood analysis of PTH, calcium, phosphate, eletrophoresis of proteins, PCR, hepatic function, and two consecutive bone biopsies of the left hip and pelvis. All exams excluded metastatic or primary bone tumors. A multi-disciplinary team of clinical oncologists, endocrinologists, nephrologists excluded other neoplastic, metabolic and rare diseases as Hadju and Cheney acro-osteolysis, carpal and tarsal osteolysis, multicentric osteolysis with nephropaty, hereditary multicentric osteolysis, Joseph acro-osteolysis, Shinz acro-osteolysis, Faber disease and Winchester disease. A multidisciplinary meeting decided by the orthopaedic surgery and radiotherapy to relieve the pain and to achieve the pathological diagnosis. The girdlestone surgery was done and the histopathological analysis showed diffuse angiomatosis in the specimen, diagnosing Gorham syndrome.
Gorham syndrome diagnosis depends on a tripod: clinical exclusion of other pathologys, image investigation and histopathology diagnosis. All three characteristics are primordial to the diagnosis of this pathology and a full investigation in a multidisciplinary level is necessary.
Correspondence should be addressed to Professor Stefan Bielack, Olgahospital, Klinikum Stuttgart, Bismarkstrasse 8, D-70176 Stuttgart, Germany. Email: s.bielack@klinikum_stuttgart.de
