Title : Vanishing Bone Disease: A rare case report of a high flow periorbital venous malformation
Abstract:
Gorham Stout Disease, or Vanishing bone disease, is a rare entity characterized by progressive resorption of bone and replacement of osseous matrix by proliferative non-neoplastic vascular or lymphatic tissue. The cause of the disease is of unknown etiology, with multiple theories being proposed so far.
Although case reports are documented in the literature, only occasional case reports describe orbital involvement. Clinical presentation of Gorham-Stout Disease can vary depending on the primary site of origin, but most patients describe an insidious onset of painless, bony or overlying soft tissue deformity. In the case of orbital bony involvement, it can present with proptosis or enophthalmos, pulsation of the eyelids or diplopia. The Authors present a 35-year-old female with an 18-month history of pulsating right eye with intermittent chronic cervicogenic headaches. Her examination revealed mild proptosis, fasciculations of the right orbital muscles. Imaging revealed an abnormal lesion that extended across the floor of the right skull base. These findings led to her diagnosis of high-flow periorbital venous malformation with subsequent loss of bone in the overlying area, consistent with Gorham Stout Disease.
The authors highlight several difficulties associated with diagnosing Vanishing Bone Disease. It is a self-limiting disease with unpredictable rates of bone destruction, which has resulted in various approaches in management. Current treatment options explore the use of pharmacological, radiotherapy and surgical interventions, although at present there are no current treatment guidelines. Surgery is often considered in the presence of debilitating symptoms, with the removal of affected bone expected to alleviate symptoms.
Audience Take Away Notes:
- Highlights to audience to consider Vanishing Bone Disease as a diagnosis of exclusion in the absence of infection, trauma and malignancy
- Difficulties of diagnosing Vanishing Bone Disease is highlighted with proposed methods to overcome such difficulties
- Factors which lead to poorer outcomes in patients who have orbital involvement is discussed
- There are currently no treatment guidelines in place for managing Vanishing Bone Disease therefore, clinical awareness of the disease plays an important role in identifying the disease and deciding an appropriate treatment plan
