Someshwar V Chate1, Amol P Jaybhaye1, Rekha Somshekharan1, Tushar N Rathod2
1Department of Paediatrics, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India.
2Department of Orthopedics, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India.
The incidence of malignant osteopetrosis is 1 in 200,000-500,000 population. Malignant osteopetrosis is caused by a defect in osteoclast function. The degradation of mineralized extracellular matrix of bone requires acid secretion by osteoclast membrane. In most of cases disturbances of osteoclast specific subunit of vacuolar proton pump (TCIRG1)., Defective bone resorption by osteoclasts leads to excessive bone deposition., Read more…