Cases of Gorham's Disease - Essay Example

? Case Presentation of Gorham’s Syndrome Gorham’s disease is an extremely rare bone disease that is osteolytic in nature. It is also referred to as Gorham’s vanishing bone disease and phantom bone disease (Deveci, et al., 2011). The most important clinical sign of the disease is that even very minor injuries lead to fractures that do not heal. Due to the rarity of the disease, the overlap of symptoms with other diseases and uncertain etiology, very few cases of Gorham’s disease have been reported. In the following literature, we will be discussing the case of a 45 year old male who presented in the maxillofacial department with marked facial asymmetry leading to functional and aesthetic problems. Introduction Gorham’s disease is a rare osteolytic disease of the bone characterized by uncontrolled proliferation of vascular and lymphatic channels within bone leading to resorption (Avelar, et al., 2010). The lost bone tissue is replaced by angiomas and fibrosis. Although the etiology of the disease is still uncertain, it does not seem to have a genetic component. Most researches attribute this disease to increased osteoclastic activity within bone that leads to vascular and lymphatic proliferation. The disease is characterized by gradual resorption of bone particularly the bones of shoulder, skull, thorax and spine although long bones may also be affected. Focal pain and limited motion (Danron, et al., 1993) may or may not be associated with injuries and results in fractures that classically do not heal. Later stages may involve functional and aesthetic problems. The diagnosis of the disease depends upon X-rays and bone scans but relies mainly on clinical findings. The disease has yet to be cured and only multiple palliative options are available. Case Report A 45 year old male presented in the maxillofacial department with complaints of right sided facial asymmetry and consequent functional and aesthetic problems. Clinical examination of the patient revealed an obvious depression in the patient’s right pre-auricular region and a condyle was not palpable on the right hand side. Blood investigations and acute phase reactions were within normal limits and there were no signs of a peripheral synovitis or previous inflammatory cause. A CT scan was ordered and showed resorption of the right condyle which appeared to be developmental in origin. The patient was referred to the rheumatology department but showed no signs or symptoms of juvenile idiopathic arthritis. The patient was subsequently followed up at a joint Maxillofacial Orthodontic Clinic. Detailed clinical examination showed that the left side of the mandible was elongated compared to the right side. The chin point was 1 cm to the right and there was a discrepancy to the right on opening the mouth. The length of the angle of the mandible to the mid-point of the chin was 8.7 cm on the right and 9.5 cm on the left. The patient was counseled about the disease and management options were given to him. These included conservative management to more radical ones such as surgery. The patient was also informed about the risks of damage to the facial nerve and its consequences. As the main concern of the patient was aesthetic in nature, he opted for corrective surgery that required fillers. An operation was subsequently undertaken which involved the placement of a dermis fat draft taken from the left thigh into the right pre-auricular area. A second operation was undertaken a year later which involved Colman fat injection from the right thigh under general anesthesia. On subsequent reviews, the patient continued to show an obvious chin point deviation to the right with a maximum incisal opening of 30 mm. he was unable to protrude the jaw and his deviation to right was 3mm and to the left was 8 mm. there was no tenderness over the joint or the muscles. However, he was unable to have a normal diet. He then started to complain about pain in his left joint due to mastication and progressive facial asymmetry. He was then referred to a specialist TMJ surgeon with a view to a right TMJ joint replacement. The TMJ surgeon examined the patient and noted that the patient had progressive deterioration in mouth opening and pain. He had a dietary score of 28/100 liquid to solid, a pain score of 78/100 and a mouth opening of 35 mm which was 41 mm two years ago. A CT scan revealed an absent right joint and a degenerating left joint. The surgeon concluded that the patient was an appropriate candidate for bilateral TMJ joint replacement. The patient was declined funding by the local authorities since the patient did not exhibit exceptionality. However, the panel noticed that the patient was a recognizable cohort under NICE guidelines on the prosthetic replacement of the TMJ. He has now been referred to a specialist unit for bilateral TMJ replacements and is under close observation. Discussion Gorham’s syndrome is a rare, progressive, osteolytic disorder (Aizawa, et al., 2005) that involves replacement of destructed bone tissue with thin-walled (Chavanis, et al., 2001) and distended vascular and lymphatic vessels leading to formation of angiomas with or without fibrosis. It is usually found in adults and does not have a genetic or gender predisposition. The exact causes of this disease are yet to be discovered. Some pathologists believe that the rise of IL-6 and VEGF, signature markers for vascular proliferation, may contribute to the chemical changes that lead to increased osteoclastic activity whereas others believe vice versa. However, this difference may be attributed to different stages in disease progression or to the fact that this disease is in fact a spectrum of diseases (Aviv, et al., 2001). The causative agent of either of these changes is not known. The symptoms of disease include focal pain in bones which may or may not be associated with injuries and do not heal easily. The most commonly affected bones are that of shoulder, skull, jaw, ribs and spine. The progression of disease involves weakness and deformity. If the disease involves the spine, it leads to neurological complications whereas if it involves the chest, it causes chylothorax (Aoki, et al., 1996) which may initially present as asthma. The diagnosis of this disease is difficult due to its rarity and absence of any biochemical lab derangements. The diagnosis is dependent upon clinical exam, radiological investigations and histo-pathological findings (Chattopadhyay & Bandhyopadhyay A, 2009). Clinical exam shows deformity or absence of bones. Radiological examination includes x-rays, CT scans, MRIs and bone scans showing osteolytic pattern of disease (Crone & RG, 1990). The definitive diagnosis can only be established through a histo-pathological examination which requires a generous section of involved bone to undergo a biopsy and show vascular and lymphatic infiltration within the bone. Definitive treatment for this disease has not been found as yet and the current management is mostly palliative (Brownr, et al., 2011). It involves administration of Interferon alpha-2b, surgical resection, radiotherapy, sclerotherapy, percutaneous bone cement, graft and prosthesis and amputation. When this disease involves the chest, the options include pleurodesis, radiotherapy, chemotherapy, resection and transplantation. In most cases, these patients eventually depend upon TPN as is the likely outcome of the case under discussion. Works Cited Aizawa, T., Sato, T. & Kokubun, S., 2005. Gorham Disease of the Spine: a Case Report and Treatment Strategies for this Enigmatic Bone Disease. J. Exp. Med., 205(2), pp. 187-196. Aoki, M., Kato, F. & Saito, H., 1996. Successful Treatment of Chylothorax by Bleomycin for Gorham's Disease. Clinical Orthopedics and Related Research1, Volume 330, pp. 193-197. Avelar, R., VB, M. & AA, A., 2010. Use of Zoledronic Acid in the Treatment of Gorham's Disease. Int.J.Pediatr.Otorhinology, 74(2), pp. 319-322. Aviv, R., McHugh, K. & Hunt, J., 2001. Angiomatosis of one and Soft Tissue from Diffuse Lymphangiomatosis to Vanishing Bone Disease in Young Patients. Clinical Radiology, 56(3), pp. 184-190. Brownr, J., TC, S. & Trousdale, R., 2011. Thirty Year Follow-up of Patient with Gorham Diaease (Massive Osteolysis) Treated with Hip Arthroplasty. J. Arthroplasty, 26(2), p. 339. Chattopadhyay, P. & Bandhyopadhyay A, D. S., 2009. Gorham's Diaease with Spontaneous Recovery. Singapore Med.J, 50(7), pp. 259-263. Chavanis, N., Chaffanjon, P. & Frey, G., 2001. Chylothorax Complicating Gorham's Disease. Ann.Thorac.Surg, 72(3), pp. 937-939. Crone, M. & RG, W., 1990. The Radiographic Features of Familial Expansile Osteolysis. Skeletal Radiol, 19(4), pp. 245-250. Danron, T., Brodke, D. & Heiner, J., 1993. Case Report 803:Gorham's Disease (Gorham-Stout Syndrome) of Scapula. Skeletal Radiol, 22(6), pp. 464-467. Deveci, M., Inan, N. & Corapcioglu, F., 2011. Gorham-Stout Syndrome with Chylothorax in a Six-Year-Old Boy. Indian J. Pediatr, 78(6), pp. 737-739. Read More