Gorham-Stout disease, a diagnosis of exclusion

Abstract

Gorham-Stout disease (GSD) also known as vanishing bone disease is an idiopathic and rare condition characterized by gross and progressive bone loss along with excessive growth of vascular and lymphatic tissue. Very little is known about the pathogenesis of GSD, which makes the diagnosis challenging and often diagnosed by elimination. We report a case of GSD in a 41-year-old male patient. He presented with bone pain and initial imaging showed widespread osteolytic lesions in the cervical and mid thoracic spine, ribs, sternum, clavicles, scapula, and humerus. Two percutaneous bone biopsies were performed, followed by an open spine biopsy of the lumber 2 spinous process for histological examination. Unfortunately, no diagnosis was reached. Although, he was treated symptomatically, he kept enduring pain and presented again after 7 months. His laboratory values were out of the normal range which prompted thorough investigations. New imaging and bone biopsy revealed multiple osteolytic lesions and vascular lesion with cavernous morphology respectively. GSD was diagnosed after ruling out a neoplastic process and confirming the cavernous morphology with immunohistochemical stain. He was treated symptomatically with immunomodulators, bisphosphonates, and supplements. Patient was counseled to see the specialist regularly. This case will help to increase familiarity and shed insights in the diagnosis of GSD.

Keywords: Bone biopsy; Osteolytic lesion; Spongious bone; Vanishing bone disease.

Fig. 1

(A-D) Computed tomography examination of bone structures, from the neck to the distal femoral metaphysis, presents numerous osteolytic lesions, with bone destruction, with the presence of solid tissue within the osteolytic lesions, where most are significantly imbibed with i.v. contrast. Solid vertebral masses with oval or spherical shape, with external expansion in the spinal canal, with narrowing of the spinal canal and lateral recesses (neuro-foraminal spaces). Compared to the examinations done 1 year ago, there was a slight increase in size. Such lesions were present indiscriminately, as in the vertebral, sternal, rib, pelvic bones and both proximal femurs. Right femur showed massive osteolysis, where osteosynthetic metal rod, and hyperdense mass were observed in the bone defect (implanted synthetic material).

Fig. 2

(A-C) Microscopic examination of the H&E-stained sections showed normocellular bone marrow for age, with presence of maturing trilineage hematopoiesis. Medium power view showed numerous thin-walled capillary-sized vascular channels, which were lined by inconspicuous flat epithelia and contained erythrocytes. No cellular atypia were noted ruling out malignancy. Histopathological examination of the medullary cavity suggested angiomatous tissue.