Von Recklinghausen S Disease, Engel-Von Rocklinghausen S Disease, Generalized Osteodystrophy (Engel-Von Rocklinghausen S Disease)

Von Recklinghausen's Disease, Engel-Von Rocklinghausen's Disease, Generalized Osteodystrophy (Engel-Von Rocklinghausen's Disease)

Von Recklinghausen's Disease, also known as Engel-Von Rocklinghausen's Disease or Generalized Osteodystrophy, is a disease that can present in two different ways:

1. A syndrome whose development is associated with the secretion of excess amounts of parathyroid hormone (hyperparathyroidism). The main symptoms of this disease are: demineralization of bones (as a result of which osteoporosis develops, bones become fragile and break easily) and the formation of kidney stones. In medicine, this syndrome is called fibrous osteitis fibrosa.

2. A type of neurofibromatosis is a hereditary disease characterized by tumor growth of tissues of the nervous system. In this form, skin lesions in the form of multiple neurofibromas are noted.

Thus, Von Recklinghausen's disease can manifest either as an endocrine disease (hyperparathyroidism) or as a tumor lesion of the nervous system (neurofibromatosis). In both cases, timely diagnosis and adequate treatment under the supervision of a physician are required.

Von Recklinghaus disease (VRD) and Engels-von RecklinghauerSDisease are two different forms of the same genetic abnormality that lead to the development of chronic hyperparathyroidism. These diseases can lead to a number of serious health problems, including osteoporosis and kidney stones, which can be life-threatening.

Von Recklinghus disease is caused by mutations in the RET gene on chromosome 9, which encodes the RET (recsulphydryl oxidase) receptor, the a1 and a2 subtypes of which are found in many tissues in the human body. The resulting syndrome is caused by the secretion of excessive amounts of paratrachiochormone, which leads not only to osteoporosis with increased bone fragility, but also to the formation of kidney stones. Engel-von Recklinghaus disease is also associated with a number of specific genetic mutations and manifests itself with identical symptoms.

Both diseases tend to get worse over time, so it is important to take preventative measures and regular medical checkups to catch signs of the disease early. Treatment usually includes monitoring parathyroid hormone levels and regular follow-up with doctors, as well as preventing osteoporosis and treating kidney stones. It is important to know that many patients with these diseases may have additional symptoms such as neurofibromatosis and other neoplasms. Therefore, patients are recommended to consult doctors and specialists in the treatment of cancer in general.