Journal of Medical Imaging and Radiation Oncology 58 (2014) 582–584 bs_bs_banner


Vanishing bone disease of the orbital roof: Now you see it, now you don’t Ferry Dharsono,1 Jolandi van Heerden,1 Nima Mesbah Ardakani,2 Catherine Franconi,3 Stephen Honeybul,4 Christopher R.P. Lind4,5 and William McAuliffe1 1 Neurological Intervention and Imaging Service of Western Australia, Sir Charles Gairdner Hospital and Royal Perth Hospital, 2Division of Anatomical Pathology, PathWest Laboratory Medicine and 4Neurosurgical Service of Western Australia, Sir Charles Gairdner Hospital, 3Department of Neurology, Royal Perth Hospital, and 5School of Surgery, University of Western Australia, Perth, Western Australia, Australia

F Dharsono MBBS FRANZCR; J van Heerden MBChB FRANZCR; N Mesbah Ardakani MD; C Franconi FRACP; S Honeybul FRCS FRACS; C R P Lind FRACS; W McAuliffe MBBS FRANZCR. Correspondence Dr Ferry Dharsono, Neurological Intervention and Imaging Service of Western Australia, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA 6009, Australia. Email: [email protected]

Summary We describe a rare case of vascularised orbital roof and calvarial erosions with an associated venous malformation. In the absence of infection, malignancy, trauma and eosinophillic granuloma, the closest previously described entity is vanishing bone disease. Computed tomography (CT), MRI, catheter angiography and pathology were all important in the diagnostic workup to enable surgical planning for biopsy and reconstruction. Ongoing CT and MRI follow-up imaging will determine future treatment planning. Key words: catheter malformation.






Conflict of interest: None of the authors have any conflict of interest to declare. Submitted 12 January 2014; accepted 17 March 2014. doi:10.1111/1754-9485.12199

Case report A 29-year-old female presented with a 6-year history of intermittent headaches localised to the right retro-orbital region. The pain was worsened by physical exertion, bending and strenuous lifting. She felt the right eye pulsating and noticed pulsation of the eye in the mirror. These symptoms had gradually progressed in severity over 3 years. No prior history of trauma, infection or malignancy was elicited. Serial CT scans over 4 years revealed progressive bone loss of the right orbital roof and multiple welldefined ‘venous lakes’ in the pterion and adjacent right inferior frontal bone (Fig. 1a,b). MRI revealed serpentine T2 hyper-intense enhancing foci overlying the right temporalis muscle adjacent to pterion and right frontal bone with an associated small T2 hyper-intense enhancing lesion in the extraconal space, posterior to the lacrimal gland (Fig. 1c,d). The appearance was consistent with an intra-diploic venous malformation with extraconal and extracranial components. An intra-orbital encephalocele involving the right inferior frontal lobe was 582

also detected passing through the orbital roof defect (Fig. 1c,d). Cerebral catheter angiography was performed to further assess the flow dynamics of the lesion and to assist with preoperative planning. Angiography excluded intra-lesional high-flow shunting. On latephase venous views, filling of abnormal veins was demonstrated in the region of the right orbital roof and pterion (Fig. 2). The patient underwent surgery for exploration, biopsy and reduction of the encephalocele. A two-piece orbitofronto-pterional craniotomy was fashioned. Bony erosions in the internal calvarial surface and diploe near the margins of the bone flap bled briskly and appeared to be expanded diploic venous structures with no soft tissue component (Fig. 3). Some of these were biopsied for decalcification and histopathological analysis (Fig. 4). No definite soft tissue masses were identified. Postoperatively, the patient did well with reduction of proptosis and orbital pulsations without cerebrospinal fluid leakage. Histopathology results revealed viable lamellar bone with chronic changes of remodelling as well as minimal © 2014 The Royal Australian and New Zealand College of Radiologists

Vanishing bone disease of the orbit

Fig. 1. Panels (a) and (b) are non-enhanced CT coronal views of the bony orbits obtained over a 4-year interval. Marked progression of bony osteolysis of the right orbital roof is demonstrated with subsequent worsening of the orbital roof defect. Permeative change is also noted in the adjacent right pterion. (c) Coronal fat saturated T2 weighted image of the orbits demonstrates a large right orbital roof defect with an encephalocele consisting of the right sub-frontal lobe herniating through the defect. The right orbital contents are subsequently depressed with inferior displacement and flattening of the optic nerve. (d) Post gadolinium T1 weighted image of the orbits demonstrates an avidly enhancing, vascular mass lesion posterior to the right lacrimal gland (arrow) with an extracranial-enhancing component deep to the right temporalis muscle (star).

soft tissue comprising fibrous stroma and scattered thin-walled blood vessels (Fig. 4). No osteoclastic predominance, granuloma, infection or malignancy was detected.

Discussion Idiopathic orbital osteolysis is a rare condition.1 The potential differential diagnoses include vanishing bone

Fig. 2. Delayed venous phase catheter angiogram view demonstrates abnormal venous lakes along the right supero-lateral orbit (arrow). © 2014 The Royal Australian and New Zealand College of Radiologists

disease, post-traumatic ‘growing orbital roof fracture’, eosinophilic granuloma, destructive inflammatory change and malignancy.2 Vanishing bone disease is characterised by spontaneous progressive resorption of bone. Although the condition has been well described, involvement of the orbit is rare. This entity is characterised by proliferation of thinwalled vascular channels associated with regional osteolysis.3 Histologically it is characterised by a matrix of thin-walled vessels lined by a single layer of endothelium, surrounded by extensive fibrovascular connective tissue without signs of infection or malignancy.4

Fig. 3. Intraoperative photograph of the removed fronto-pterional bone flap prior to reconstruction. Blood-filled bone erosions were limited to the internal calvarial surface, for example in the squamous temporal bone, which is marked with a white arrow at the inferior margin of the bone flap.


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been definitively proven.4,10 Likewise, medical treatment with anti-osteoclastic medication (bisphosphonates) and alpha-2b interferon has been used; however, the role of these medications remains to be established.11,12


Fig. 4. Hematoxylin and eosin stain histologic section demonstrates viable lamellar orbital bone with chronic changes of remodelling as well as a rim of activated osteoblasts (inset).

Idiopathic osteolysis was initially reported by Jackson in 1838 through a case of massive osteolysis.5 In 1955, Gorham and Stout described the main pathologic features of this disease as vanishing bone disease associated with intra-osseous ‘capillary proliferation or angiomatosis’. Gorham disease is a non-hereditary disease with no sex predilection. The recorded ages at presentation is wide ranging from 2 to 65 years. Upper arm, shoulder girdle and mandible are the most common primary sites.4,6 The severity of the vascular abnormality varies, and the condition has been described associated with cutaneous and soft tissue venous and lymphatic malformations.7,8 The prognosis is variable, ranging from minimal disability to death, depending on the site and extent of involvement. Widespread involvement of the axial skeleton, particularly of the spine and thorax, may result in neurologic and pulmonary sequelae, sometimes with fatal outcome.9 Computed tomography is used to evaluate the extent of bone osteolysis, and also to facilitate biopsy of the affected bone. MRI is used to delineate any soft tissue involvement. Conventional angiography can be used to exclude a high flow vascular malformation. Bone scintigraphy is not reliable because of variable accumulation of isotopes at the lesion site.10 Surgery is required to obtain biopsy material, but the best treatment to reverse or stop progression of this rare condition may be radiotherapy, although this has not yet


1. Krohel GB, Freedman K, Peters GB, Popp AJ. Gorham disease of the orbit. Am J Ophthalmol 2002; 133: 729–30. 2. Alsuhaibani AH, Hitchon PW, Smoker WR, Lee AG, Nerad JA. Orbital roof encephalocele mimicking a destructive neoplasm. Ophthal Plast Reconstr Surg 2011; 27: e121–3. 3. Collins J. Case 92: Gorham syndrome. Radiology 2006; 238: 1066–9. 4. Lee S, Finn L, Sze RW, Perkins JA, Sze KC. Gorham Stout syndrome (disappearing bone disease): two additional case reports and a review of the literature. Arch Otolaryngol Head Neck Surg 2003; 129: 1340–3. 5. Jackson JBS. A boneless arm. Boston Med Surg J 1838; 18: 368–9. 6. Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis. J Bone Joint Surg Am 1955; 37-A: 985–1004. 7. Bruch-Gerharz D, Gerharz CD, Stege H, Krutmann J, Pohl M, Koester R, Ruzicka T. Cutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: a novel clue to the pathogenesis of a rare syndrome. J Am Acad Dermatol 2007; 56 (2 Suppl.): S21–5. 8. Somoza Argibay I, Diaz Gonzalez M, Martinez Martinez L, Ros Mar Z, Lopez-Gutierrez JC. Heterogenicity of Gorham-Stout syndrome: association with lymphatic and venous malformations. An Pediatr (Barc) 2003; 58: 599–603. 9. Yoo SY, Hong SH, Chung HW, Choi JA, Kim CJ, Kang HS. MRI of Gorham’s disease: findings in two cases. Skeletal Radiol 2002; 31: 301–6. 10. Papadakis SA, Khaldi L, Babourda EC, Papadakis S, Mitsitsikas T, Sapkas G. Vanishing bone disease: review and case reports. Orthopedics 2008; 31: 278. 11. Hagberg H, Lamberg K, Astrom G. Alpha-2b interferon and oral clodronate for Gorham’s disease. Lancet 1997; 350: 1822–3. 12. Hammer F, Kenn W, Wesselmann U, Hofbauer LC, Delling G, Allolio B, Arlt W. Gorham-Stout diseasestabilization during biphosphonate treatment. J Bone Miner Res 2005; 20: 350–3.

© 2014 The Royal Australian and New Zealand College of Radiologists

Vanishing bone disease of the orbital roof: now you see it, now you don't.

We describe a rare case of vascularised orbital roof and calvarial erosions with an associated venous malformation. In the absence of infection, malig...
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