Neurofibromatosis

The most common form of NF is NF1 (type 1 neurofibromatosis). About 1500 Finns have this disease. NF1 is one of the most common hereditary diseases and its incidence is no less than 1:2,000. The neurofibromatoses are associated with a number of symptoms which may vary in severity. HF1 may be so mild that the subject doesn't consider it a disease at all, while others may have a multitude of problems because of the disease which fill much of the patient's life. A neurofibromatosis may be inherited from parent to offspring, but about half of the patients have the condition because of a new gene error (mutation). This means that healthy parents may have a child with NF1.

The first signs of NF1 are usually light brown skin changes, so called cafe au lait spots, which appear in childhood. If at least six such spots with a diameter of at least 5 mm are seen, this may indicate NF1. The spots tend to grow to more than 1.5 cm in diameter by adulthood. During and after adolescence skin-coloured papules, which may reach a diameter of 1–2 cm, usually appear. In adulthood, these skin changes are usually the most bothersome consequence of NF1. NF1 is often associated with learning difficulties in school, hyperactivity and an increased risk of brain tumours and other malignant tumours of the nervous system. The risk of other forms of cancer is also increased in adults with NF1. For these reasons, it is appropriate to diagnose NF1 already in childhood, so that the person may be followed up, preferably by the same physician familiar with NF1, because of the increased risk of cancer.

The responsible physician for the neurofibromatosis clinic at Tyks is specialised physician Jussi Leppävirta.