Disappearing bone disease
- 2. Introduction • Disappearing bone disease also known as the gorham stout syndrome or the vanishing bone disease is a rare skeletal condition of unknown etiology characterised by progressive massive osteolysis along with proliferation of thin walled vascular channels. • It was first described by Jackson in 1838 who studied it in the humerus bone in an article titled, “A boneless arm”. • The condition was named after Lemuel Whittington Gorham and Arthur Purdy Stout.
- 4. Etiopathogenesis • The etiology of this condition remains unknown and poorly understood. • Interleukin 6 and VEGF is increased. • Also there is increase in osteoclasts so the rate of bone resorption exceeds the rate of formation due to which there is osteolysis and bone vanishes.
- 5. Sites • 1)Humerus-1st reported • 2)Pelvis • 3)Skull • 4)Mandibles • 5)Shoulder • 6)Spine • 7)Fingers and toes
- 6. Clinical features • Usually it is common in age group less than 40 years and in males . • There are no symptoms till a fracture occurs • Symptoms include localised pain and swelling which increases. • Patients may also complain of chest pain,Dyspnea and condition may be misdiagnosed as asthama. • May lead to pleural effusions,Pericardial effusions and chylothorax • Extra skeletal manifestations occur in spleen
- 7. Diagnosis:Heffez criteria on biopsy
- 8. Differential diagnosis • 1)Hajdu Cheney syndrome • 2)Osteomyelitis • 3)Eosinophilic granuloma • 4)Heridetary multicentric osteolysis • 5)Osteolysis with nephropathy • 6)Eosinophilic granuloma
- 9. Investigations • 1)X-rays-Early stages Patchy osteoporosis is seen • Eventually concentric shrinkage gives it a ,”sucked candy appearance” • 2)Biopsy as per heffez criteria • 3)Chest X-ray pa view,Usg abdomen to see for splenomegaly • 4)CT,MRI of affected part-To confirm the diagnosis
- 12. Management • Treatment is symptomatic and till now no treatment has been completely effective and all interventions are experimental • Medical-Bisphosphonates(Pamidronate) • Sirolimus(New drug)-Mtor inhibitor(Mechanistic target of rapamycin) • Interferon alpha 2b • Sclerotherapy
- 13. Surgery • Surgical stabilisation,Bone cement,Bone graft and amputation in severe cases • Extra skeletal-Surgical resection,Pleuroperitoneal shunt,Thoracocentesis,Pleurectomy. • Radiation therapy may be also given
- 14. Complications • 1)Pericardial effusion,Pleural effusion,Chylothorax • 2)Severe deformity and functional disabilty • 3)Spine involvement can result in paraplegia • 4)Meningitis Rare • 5)Spontaneous fractures
- 15. • Thank you