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​Neurofibromatosis

The neurofibromatoses are a group of hereditary diseases characterized by benign tumors of the nervous system. We call these diseases just NF in Finnish.

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-colored 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 tumors and other malignant tumors 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.

At the Dermatology Outpatient Clinic, NF1 patients are diagnosed and followed up.  If needed, patients are referred for further consultations to other specialties.

The responsible physician for the neurofibromatosis clinic at Tyks is Dr. Sirkku Peltonen, Adjunct Professor.  

For more information about NF1, see the guide for children.

For further information, please contact:

Association for NF patients in Finland

NF1 study group (Turku University Hospital and University of Turku)

Päivitetty: 15/02/2017 08:43

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