Melorheostosis It is usually apparent in early childhood and even in the first few days of life. About 50% of persons affected will develop the symptoms by the time they are 20 years of age. On x-rays, the disease's sclerotic bone lesions looks like wax dripping down the side of a candle. Hence its name; which is derived from the greek melos "limb" and rhein "to flow".
Radiolucent lesion w/ expanded cortex arising in medullary canal of metaphysis, aneurysmal expanded appearance of cortex is contained by periosteum & thin shell of bone; Marked cortical thinning and erosion and periosteal elevation; Lesion rarely penetrates the articular surface or growth plate.
Defective collagen synthesis leads to defective dentine formation.
Hemorrhaging into the gums, and loss of teeth.
Bone involvement is typical.
Calcification of the growth cartilage at the end of the long bones continues, leading to the thickening of the growth plate. The typical invasion of the growth cartilage by the capillaries does not occur. Preexisting bone becomes brittle and undergoes resorption at a normal rate, resulting in microscopic fractures of the spicules between the shaft and calcified cartilage. With these fractures, the periosteum becomes loosened, resulting in the classic subperiosteal hemorrhage at the ends of the long bones.
Joints - Preservation of joint space initially, absence of periarticular demineralization, erosion of joint margins with sclerosis, cartilage destruction late in course of disease, periarticular swelling, Chondrocalcinosis (menisci, articular cartilage of knee) resulting in secondary osteoarthritis
Common side effects include muscle tremors, twitching, ataxia, hyperparathyroidism (bone loss, hypercalcemia, hypertension, etc,), kidney damage, nephrogenic diabetes insipidus (polyuria and polydipsia) and seizures. Many of the side-effects are a result caused by the increased elimination of potassium