Final answer:
Osteitis fibrosa cystica, known as von Recklinghausen disease of bone, is a skeletal disease characterized by bone weakening and cyst-like formations due to excessive parathyroid hormone production. This leads to heightened bone resorption, weaker bones, and elevated calcium levels in the blood.
Step-by-step explanation:
Osteitis fibrosa cystica, also known as von Recklinghausen disease of bone, is a severe form of bone disease that occurs when the parathyroid glands produce too much parathyroid hormone (PTH). The overproduction of PTH leads to increased bone resorption, which is the breakdown of bone tissue by osteoclasts. As a result bones become weak, develop cyst-like areas, and are prone to fractures. The increase in bone resorption also causes elevated levels of calcium in the blood which can lead to other symptoms such as kidney stones and abdominal pain.
This condition should not be confused with fibrodysplasia ossificans progressiva, which is a disease of the connective tissue caused by a genetic mutation leading to the abnormal transformation of connective tissue into bone. Furthermore, osteopetrosis, characterized by increased bone density, is also due to a genetic mutation in the gene coding for carbonic anhydrase II not related to the oversecretion of PTH. Another relevant but distinct condition is osteogenesis imperfecta (brittle bone disease), which results from defective collagen production, affecting bone strength and leading to frequent fractures.