neurofibromatosis is a collective term for hereditary diseases that belong to the phakomatosis - that is, they primarily affect the skin and the nervous system. Neurofibromatosis is a rare disease. Here you read everything important to the different forms.
ICD codes for this disease: ICD codes are internationally valid medical diagnosis codes. They are found e.g. in doctor's letters or on incapacity certificates. Q85C47D33
There are two main types of neurofibromatosis:
- Neurofibromatosis type 1 (NF1, Recklinghausen disease)
- Neurofibromatosis type 2 (NF2, central neurofibromatosis)
Both diseases are genetic and are associated with benign tumors in the nervous system. The more common Morbus Recklinghausen manifests itself mainly by special skin tumors (neurofibromas), which develop primarily in puberty. In addition, pigmentary disorders - for example, so-called café au lait spots - and small, so-called Lisch nodules occur in the iris of the eye. In some cases, changes to the skeleton or a tumor on the optic nerve arise.
In the case of neurofibromatosis type 2, on the other hand, the symptoms of the skin are usually absent, so that the disease goes unnoticed for a longer time. One-sided or bilateral tumors often develop in the region of the auditory and equilibrium nerves (acoustic neurinomas). Other nerves in the brain and spinal cord may also be affected. The diagnosis is usually made in this disease only when the tumors, hearing problems, balance problems and other neurological complaints occur.
Both types of neurofibromatosis are inherited as an autosomal dominant, ie independent of the sex chromosomes. The change in the genetic material (mutation), however, takes place on different genes. Also different in their severity are Recklinghausen disease and Neurofibromatosis type 2. Physicians therefore regard them as separate clinical pictures.