Defining Characteristics
Spine sclerosis with sandwich vertebrae (rugger jersey spine), variable penetrance/ severity
Disease Development
Mutation in TC1RG1 causes inability of osteoclast to secrete hydrogen ions into the bone matrix, thereby decreasing bone resorption
Epidemiology
Late childhood/ adolescence onset
Lab/Imaging
XR? Rugger jersey spine
Complications
Fractures, osteomyelitis, possible nerve compression