Von Recklinghausen's disease, also called neurofibromatosis type 1 (NF1), is an inherited genetic disease. It affects bones, skin and nervous system, manifesting itself with tumor formations all over the body.
The diagnosis of the disease is based on a series of unequivocal clinical signs, both on a physical and on a neurological level.
- Brain injuries. Over half of the patients show abnormalities in the brain, in the orbits or both. The cause is the neurofibromas of the disease and from which its scientific name derives. They often affect the optic nerve and the parenchyma. Bilateral optic glioma, for example, is one of the possible consequences of Von Recklinghausen's disease.
- Spots. Another typical symptom is also light brown spots, which must be more than six and at least 5 mm wide. After puberty they tend to become bigger, numerous and dark.
- Freckles. Those suffering from Von Recklinghausen's disease show multiple freckles in the armpit and groin area.
Among the possible complications related to the disease there are also tumors on the palate or tongue and skeletal deformations. In addition, some patients with mosaicism show symptoms only on one segment of the body.
Neurofibromatosis type 1 is caused by inherited genetic abnormalities in about 50% of cases. In these cases, the diagnosis is made by a history and observation of symptoms. In the other half of the cases, it is based on clinical symptoms. For the most ambiguous cases, the genetic test is used.