Gorham disease is an extremely rare bone disorder in musculoskeletal system. The pathologic process is the replacement of normal bone by an aggressively expanding vascular tissue. It may affect the appendicular or the axial skeleton. Common sites of involvement are the shoulder & the pelvic. It rarely involves spine that would cause serious neurologic complication. This case report shows a 51-year-old woman with Gorham disease who had paraparesia due to thoracic vertebral involvement.

Gorham disease should be in differential diagnosis of any osteolytic lesion in skeleton after excluding other common causes of osteolysis.

Esfandbod M, Khajavirad N, Galamkari M, Khatuni M (2017) Gorham Disease Involving Thoracic Spine: A Case Report. Ann Clin Cytol Pathol 3(7): 1080.

•    Gorham disease
•    Osteolytic lesion
•    Spinal mass

Gorham disease, also known as Gorham-Stout syndrome, massive osteolysis, disappearing/vanishing bone disease, or phantom bone disease [1]; is an extremely rare bone disorder of musculoskeletal system. It was first reported by in 1838 [2]. In 1955 Gorham & his colleagues provided a more comprehensive report on massive osteolysis disease with histologic feature of intraosseous proliferation of hemangiomatosis or lymphangiomatosis tissue. Therefore the condition became known as “Gorham disease” [3].

Gorham disease is a non-hereditory disorder most affected before 40 years old. Its etiology &pathophysiology is poorly understood [4]. The pathological process is the replacement of normal bone by an aggressively expanding but non-neoplastic vascular tissue [1]. Also it has been suggested that an increase in the sensitivity of osteoclast precursors to humoralfactors, promote osteoclast formation & bone resorption [4].

Gorham disease may affect the appendicular or the axial skeleton. The most common sites of involvement are the shoulder & the pelvis [1]. Other sites which may be involved are the humerus, scapula, clavicle, sternum, mandible,ulnar, maxillofacial skeleton & hand [5-8]. Chylosis pericardial & pleural effusions may be present due to extension of the involved vertebra, scapula, rib and sternum to mediastinum [1,9]. It rarely involves spine that would cause serious neurologic complications [10,11].

Here we report a patient with Gorham disease who had neurological deficit due to thoracic vertebral involvement.

A 51 year old woman had a 3 month history of progressive low back pain & a week history of paraparesia & parestesia. She was a married house wife from Tehran & didn’t have any history of trauma or radiation. She didn’t mention any specific medical disorder except long term hypertension & impaired glucose tolerance. She was treated with losartan & metformin since 5 years ago. Her family & habit history was unremarkable.

On physical examination localized tenderness at 7-8 thoracic vertebraes was significant. Paraparesia (muscle force 2/5) with increased knee DTR & upward plantar reflex was detected. She also had sensory level at mid-chest wall.

The patient’s lab data was acceptable except a low 25OH Vit D level (10ng/ml). Spinal magnetic resonance imaging (MRI) revealed a mass involving most of the T7 vertebral body (Figure 1); associated with a large lobulated paravertebral soft tissue mass mainly in right anterolateral portion. This was extended into epidural space at T7 level & causes local CSF blocks (Figure 2). Tc 99m MDP bone scintigraphy revealed increased uptake at T7 vertebral body (Figure 3). SPECT CT scan confirmed bones scan (Figure 4).

The patient underwent anterior thoracotomy, mass resection & spinal reconstruction. The histopathological results of the mass revealed fragments of bone tissue replaced by proliferated angiomatous vascular space in some areas, intervening hematopoietic cells mixed with prominent plasma cells and without presence of cellular atypia (Figure 5). The immunohistochemistry (IHC) staining was positive for CD3, CD20, CD31, BCL2, LCA markers and Ki67 in less than 5% of tumor cells was positive, suggested vascular origin of the lesion, presence of B and T lymphocytes and low cellular proliferative activity. These findings confirmed osteolysis with secondary angiomatosis “Gorham Disease”.

After surgery, medical treatment with zoledronic acid and interferon was initiated &the patient was able to walk after 3 weeks.

Gorham disease is a rare mysterious bone disease of unknown etiology. Most of affected patients are before 40 years old. Less than 200 cases have been reported worldwide [4]. As noted Spinal involvement is extremely rare as an initial presentation of Gorham disease which was revealed in our patient.

Diagnosis is often delayed as laboratory studies are usually normal; in our patient almost all laboratory findings were normal. A high clinical suspicion with radiologic & histopathologic findings can help for early diagnosis. Gorham disease is not a primary diagnosis [8]. The diagnosis should be made only after excluding other causes of osteolysis such as Paget disease at destructive stage, eosinophilic granuloma, Brown tumor, osteolytic metastasis &infections [1,4]. Gorham disease can also mimic various osteolytic syndromes like: Acro-osteolysis syndrome, Farber’s disease and Winchester’s syndrome.

The radiologic finding is variable. Intra medullary or subcortical lesions are seen during the initial stage, followed by progressive atrophy & fracture. The disease can extend to contagious bone & soft tissue [1]; as was seen in our patient that extended into epidural caused neurologic signs.

Radioisotope bone scan shows increased vascularity then decreased uptake at the site of diminished osseous tissue [1]. Tc scan & SPECT CT of our patient also revealed increased vascularity.

The natural history of Gorham disease is unforeseeable& spontaneous regression is also reported [1]. In some of reported cases after a variable time of evolution, the osteolysis would undergo spontaneous arrest [12]. Different treatment strategies propose for Gorham disease including: medical treatment with biphoshonates, a-2b interferon, calcium, vitamin D and androgens and also radiotherapy and even surgery in large lesion with patient disability [9,13].

Three weeks after surgery, our patient was able to walk & her disease has not been progressed during the next 6 months.

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