Recklinghausen disease is a rare hereditary disease. It is a disease of the nerve pathways in which growths develop in the sheath of the nerves. The disease is mainly visible on the skin. Sometimes one can consider having these growths removed. This can be done through surgery or laser treatment.
Recklinghausen’s disease
Recklinghausen’s disease is also called Neurofibromatosis type 1. It is a genetic disease in which the protein neurofibromin is not produced. The disease is caused by a change in the gene for the protein neurofibromin. In half of the cases it concerns a change in the gene of one of the parents, in the other cases it concerns new changes. Recklinghausen’s disease involves a change in a gene on chromosome 17. Strictly speaking, it is a disease of the nerve pathways, but it is mainly visible on the skin. The disease occurs in approximately 1 in 3,000 people. The disease usually occurs at a young age or during puberty. The disease can also manifest itself later in life, but the chance is smaller.
Symptoms
- Light brown skin discolourations (‘café-au-lait’ spots)
- Growths (neurofibromas) on the skin
- Learning disabilities
- Motor problems
- Freckles in the armpit or groin region
- Malignant tumors (in rare cases)
- Promoting the development of a tumor in the adrenal gland (very exceptional)
Types of Neurofibromatosis
Recklinghausen’s disease or Neurofibromatosis type 1 is the most common form of Neurofibromatosis. With this type, bumps develop on your body that we call neurofibromas. These are growths under the skin that emanate from the nerve sheaths. In addition to these bumps, we also often see brown spots under the armpits or in the groin area. When these bumps open, there is a very strong smell, which is very unpleasant for your immediate environment. The disease can range from people who have few neurofibromas to people who are very severely affected.In addition to Recklinghausen’s disease, we also have another type: Neurofibromatosis type 2. In this type, benign tumors grow on the auditory nerve. This nerve carries information from the ear to the brain. Tumors can also develop on other nerves or the spinal cord.
Therapy
When they grow so large that they start to press on the nerve pathways, people find it so annoying or painful that they want to do something about it. Surgical intervention may be necessary for cosmetic reasons but also when the tumors cause pressure within the nervous system. These growths are removed via surgery where possible. A major disadvantage is that the tumors can easily come back with this treatment.A second possible treatment consists of using a CO2 laser to shave the fibroids layer by layer until the entire lesion has been abraded. The skin feels flat like any normal skin, but there will be a scar at the site of the tumor. This is also the reason why this method is not used on the face. The scars on the face can be removed much more beautifully through surgery. One always starts by cutting away a small number of growths on an experimental basis. Only when the patient is satisfied with the result can we continue with the rest. The laugh folds are first marked to place the scar in the natural laugh folds as much as possible. Then each bump is anesthetized. After anesthesia, a sterile cloth is placed on the face. Because the neurofibroma can branch out quite a bit, cutting is done in depth. The neurofibroma is then removed. The hole that has arisen will then be sutured with an absorbable thread. This is a thread that is digested by itself. This wire is inserted into the depth of the wounds to properly pull the wound edges together. Subsequently, a few superficial skin threads will also be placed. After the test, you will go under general anesthesia. This way, multiple growths can be removed at the same time.