Recklinghausen’s disease

Recklinghausen’s disease is now also called neurofibromatosis. It is a dominantly hereditary disease. Symptoms mainly include brown spots on the skin and benign skin tumors or growths. These symptoms often lead to skin cancer. Then there is another Recklinghausen disease: a bone disease in which cysts develop in the bones.

Recklinghausen’s disease or neurofibromatosis?

There is quite a bit of confusion about the different names. Recklinghausen’s disease or neurofibromatosis is a disease characterized by skin tumors. We distinguish between type 1 and type 2. Then there is Recklinghausen’s disease or Ostitis fibrosa cystica generalisata. This causes cysts to form in the bones. Both diseases are described here. Particularly little is known about the latter.

Neurofibromatosis type 1

The most common form of neurofibromatosis is type 1. The cause is a hereditary error in the DNA. The 17th chromosome is affected, causing the disease. Sometimes there is no inheritance, but the error in the DNA occurred during the first days after fertilization. Children with this congenital disease can pass it on to their offspring.
The symptoms of neurofibromatosis type 1 are mainly visible from the outside. Neurofibromas develop. These are growths or bumps on the skin. The capsules around the nerves become thickened. This can cause the skin to become bumpy. This most often occurs in the limbs and neck. Nerve pain or numbness may also occur in these areas. Sometimes the neurofibromas are large. Touching is then painful. Light brown spots may appear on the skin. Sometimes the skin above a neurofibroma is extra hairy. Sometimes there are extremely many freckles in the armpits and groin. Tumors can also develop elsewhere in the body. This is often visible. A tumor in the eye often manifests itself in reduced vision, but this is not always the case.
Other symptoms that may occur include headaches or migraines, epilepsy, delayed motor development in children, language delay, difficulty speaking, a larger head, high blood pressure and abnormal behavior. In addition, a disturbance in the bone system may occur. This is manifested by a crooked back or crooked arms or legs. In children, bones can grow unevenly. In 1 in 15 to 20 cases, cancer can develop, mainly a brain tumor.
Treatment mainly consists of ensuring that the patient functions as well as possible. Children can receive physical therapy and speech therapy to catch up. Sometimes glasses are needed to improve vision. Plastic surgery can help to remove tumors when they cause serious nuisance or disfigurement. Medications can be used for migraines. The disease itself cannot be cured.

Neurofibromatosis type 2

This form of neurofibromatosis is much less common. This disease is dominantly hereditary. This means that there only needs to be one mistake in the gene for this disease to be inherited. The error is on chromosome 22.
The symptoms of this disease are the development of tumors. These tumors often occur on the brain, spinal cord or auditory nerve. The tumors can vary greatly in size and quantity, but this is the same in every patient. With a tumor around the auditory nerve, hearing is affected. Dizziness may also occur. The balance organ is affected and the patient may suffer from dizziness or fall over. In addition, the optic nerve can also be affected. Cataracts usually develop. This sometimes occurs in children. Head tumors are common in type 2. For example, half of all patients develop a brain tumor. About half of the patients also develop a tumor around the spinal cord. Tumors on the brain or spinal cord manifest themselves in changing behavior, difficulty walking, moving, talking, incontinence, headache, nausea, etc., depending on where the tumor is located. Skin tumors and light brown spots on the skin may develop.
Treatment is aimed at reducing the complaints. Cure is also not possible with this type. A brain tumor with this disease is less aggressive than when cancer arises without this disease.

Ostitis fibrosa cystica generalisata

This disease is also called Recklinghausen’s disease. This should not be confused with neurofibromatosis. The cause is an overproduction of parathyroid hormones by the parathyroid gland. Sometimes parathyroid cancer occurs. Cavities, also called cysts, develop in the bones. An excess of calcium occurs in the blood.
The symptoms are bone pain and an increased risk of bone fractures. The limbs can become deformed. Treatment often consists of administering vitamin D. This ensures that calcium is better absorbed by the bones. In severe cases, the entire parathyroid gland can be removed.

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