Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“

Melorheostosis, a sporadic, asymmetric hyperostosis that usually affects the long bones, can cause pain and intermittent swelling of joints and limit mobility. Deformity and limb-length discrepancy may result from shortening of muscles, ligaments, and tendons.51 Often, cutaneous changes are present over subsequently involved skeletal areas. No sex preference is seen; symptoms usually begin before 20 years of age. The disorder may progress, but it is commonly present in only one limb, generally a lower extremity, of which one or several bones are affected. Radiographic examination reveals a “dripping-candle-wax” appearance to the cortex (Fig. 66-8). Bone scanning shows increased radionuclide uptake in involved areas.49 No effective medical treatment exists. Some patients require surgery to relieve symptoms from contractions or neurovascular entrapment.