Sue E Seidl
Hi, I have a friend with neurofibromatosis, so have found out a little about it. The form described by von Recklinghausen is the most common & accounts for around 95% of all cases. This is also known as Nf1. It's equally common in males & females of all racial & ethnic backgrounds. Around 2 million people in the world have it. The other forms of Nf are pretty uncommon. Nf1 is caused by an abnormality in a gene on chromosome 17 & it's a variable disease & no two people are affected in the same way.
The major features are cafe-au-lait spots & dermal neurofibromas also Lisch nodules (small nodules on iris of the eye). People with NF1 may also have another form of skin pigmentation unique to the disease; freckling in unusual places like the armpit, groin or around the base of the neck.
About a third of people with Nf1 develop complications e.g. plexiform neurofibromas. These are usually much larger than the dermal neurofibromas & more difficult to remove. Some people also have learning difficulties, there can also be orthopedic problems.
Hope this is of some use to you.