Neurofibromatosis, type 1
What is Neurofibromatosis Type 1?
Neurofibromatosis Type 1 (NF1) is a genetic condition that can cause skin findings and tumors, or growths, in different parts of the body. The majority of the tumors that NF1 can cause are benign (do not cause cancer). Individuals with NF1 may also develop an eye finding called iris Lisch nodules, which do not affect vision but can be an important diagnostic clue. People with NF1 can be affected very differently from one another, even in the same family. Some individuals with NF1 may have very mild health issues and may never be diagnosed on the basis of their symptoms, while others with NF1 have much more severe health and/or cosmetic issues on the basis of their symptoms.
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Are there other names for Neurofibromatosis Type 1?
Neurofibromatosis Type 1 is often abbreviated as NF1. Neurofibromatosis Type 1 may also be referred to as von Recklinghausen disease, peripheral neurofibromatosis, and Recklinghausen disease, nerve.
How common is Neurofibromatosis Type 1?
NF1 is a rare disease, estimated to affect around 1 in 3,000 to 1 in 4,000 people.
5. Are there any other diseases that look a lot like Neurofibromatosis Type 1?
There are more than 100 genetic conditions and multiple congenital anomaly syndromes that include café-au-lait spots (flat, pigmented birth marks) or other typical findings of NF1. However, based on the other clinical features of NF1 and these other syndromes, medical geneticists and other physicians familiar with these conditions can generally distinguish NF1 from other conditions clinically. Some of the more common rare disorders which share clinical features in common with NF1 include:
- Noonan syndrome
- Tuberous sclerosis
- Proteus syndrome
- McCune-Albright syndrome
- Neurofibromatosis Type 2
One genetic condition known as Legius syndrome can be very difficult to distinguish clinically from NF1 because of the clinical overlap in features, especially in a young child. NF1 and Legius syndrome are caused by gene changes in different genes, and so genetic testing may be used to differentiate between these conditions.
Individuals who have questions about genetic testing for NF1 or related conditions may benefit from consultation with a medical geneticist and genetic counseling. If you are interested in genetic services in your area, your primary care provider may be able to provide you with a referral. Additionally, the National Society of Genetic Counselors website includes a searchable "Find a Genetic Counselor" directory which may be used to locate genetic counselors throughout the United States and Canada.