Inhoudsopgave
Wat is NF1?
Neurofibromatose type 1 (NF1) is een erfelijke aandoening. De oorzaak is een foutje in een gen. Met NF1 word je geboren. Door NF1 krijg je bijna altijd neurofibromen.
Wat is de ziekte van Von Recklinghausen?
De ziekte van Von Recklinghausen (neurofibromatose type 1) is een erfelijke ziekte waarbij bindweefselgezwellen ontstaan op of rondom zenuwen. De gezwellen zijn goedaardig; de ziekte is dus geen vorm van kanker. Er zijn twee types neurofibromatose (NF): type 1 (NF1) en type 2 (NF2). Type 1 komt het meest voor (1:3000).
Is NF1 a serious condition?
About NF1. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. While NF tumors are generally not cancerous, they may cause health problems by pressing on nearby body tissue. Sometimes a benign tumor may become malignant (cancerous), but most people with NF1 will never develop a malignant tumor.
How is neurofibromatosis type 1 (NF1) diagnosed?
People with NF1 should have their blood pressure checked at least annually. Only a physician can make a formal diagnosis of neurofibromatosis type one, or NF1. The diagnostic criteria for NF1 were updated in 2021, and the updated criteria are listed below. You can also view this Infographic to learn more.
Are there any bone defects in NF1?
Bone Issues. The varieties of bone defects seen in NF1 are usually evident at birth, and most are uncommon. Defects can occur in almost any bone, but are seen most often in the skull and limbs. They include: Congenital absence of the orbital wall, the bone normally surrounding the eye.
What kind of Doctor treats NF1?
NF1 Treatments. Because NF1 involves many different systems of the body, and cases of NF1 vary from patient to patient, doctors and staff from many different specialties may be involved in the care and treatment of an NF1 patient, such as dermatologists, neurologists, ophthalmologists, orthopedists, psychologists, oncologists, cardiologists,…