Disappearing bone disease

disappearing bone disease

1. 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.

3. 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.

4. Sites 1)Humerus-1 st reported 2)Pelvis 3)Skull 4)Mandibles 5)Shoulder 6)Spine 7)Fingers and toes

5. 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

6. Diagnosis:Heffez criteria on biopsy

7. Differential diagnosis 1) Hajdu Cheney syndrome 2)Osteomyelitis 3)Eosinophilic granuloma 4) Heridetary multicentric osteolysis 5)Osteolysis with nephropathy 6)Eosinophilic granuloma

8. 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

9. 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

10. 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

11. 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

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