Neurofibromatosis

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Neurofibromatosis is a collective term for hereditary diseases that belong to the phacomatoses - that is, they primarily affect the skin and the nervous system. Neurofibromatosis is a rare disease. Here you can read everything you need to know about the various forms.

ICD codes for this disease: ICD codes are internationally recognized codes for medical diagnoses. They can be found, for example, in doctor's letters or on certificates of incapacity for work. Q85C47D33

Neurofibromatosis: types

There are two main forms of neurofibromatosis:

Neurofibromatosis type 1 (NF1, Recklinghausen's disease)
Neurofibromatosis type 2 (NF2, central neurofibromatosis)

Both diseases are genetic and are associated with benign tumors in the nervous system. The somewhat more common Recklinghausen's disease manifests itself primarily through special skin tumors (neurofibromas) that mainly develop during puberty. There are also pigment disorders - for example so-called café-au-lait spots - and small, so-called Lisch nodules in the iris of the eye. In some cases changes in the skeleton or a tumor in the optic nerve also develop.

In neurofibromatosis type 2, on the other hand, the symptoms of the skin are usually absent, so that the disease remains unnoticed for longer. Tumors on one or both sides often develop in the area of the auditory and equilibrium nerves (acoustic neuromas). Other nerves in the brain and spinal cord can also be affected. The diagnosis of this disease is usually only made when the tumors cause hearing disorders, balance problems and other neurological complaints.

Both types of neurofibromatosis are inherited in an autosomal dominant manner, i.e. independent of the sex chromosomes. However, the change in the genetic material (mutation) takes place on different genes. Recklinghausen's disease and neurofibromatosis type 2 also differ in their severity. Doctors therefore regard them as separate clinical pictures.

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