Medical Q&As

Neurofibromatosis - scary diagnosis?

Could you give me some information about neurofibromatosis? I have several lumps and have had some removed and tested and have been told thatís what this is. A lot of the information I've been given has been complicated and a bit scary. Can you shed any light?

The term neurofibromatosis refers to a group of genetic disorders that result in the growth of tumours in nerves. Since nerve tissue is distributed throughout the body these growths can be found anywhere on the surface or within the structure of the body. It is important to emphasise that most people with neurofibromatosis are affected to a mild or moderate degree. There are two forms of the condition, which are referred to as NF1 (neurofibromatosis 1) and NF2 (neurofibromatosis 2). NF1 is the commoner condition and used to be known as vonRecklinghausen\'s neurofibromatosis, after the doctor that originally described the condition. It is characterised by freckle-like skin markings and multiple lumps (neurofibromas) on or under the skin. NF2 is also known as BAN (bilateral acoustic neurofibromatosis) and is characterised by multiple tumours on the spinal and cranial nerves. Both auditory nerves (hearing nerves) are usually affected resulting in severe deafness. Usually there are no visible skin lesions with NF2. Since you have indicated in your question that you have several skin lumps I would assume that you have NF1. NF1 is due to an abnormality of chromosome 17 that can either be inherited from the father or the mother or it can arise spontaneously by mutation of the gene. Mutation means that the chromosomes that were inherited were normal but the gene underwent a transformation for reasons that we do not yet fully understand. I get a strong sense that you are still coming to terms with your diagnosis and do not fully understand the condition. There is an Irish patient support group for this condition, which I recommend you make contact with. They have a website, which you can access through this link: Make contact with them. The reality of your situation may not be as scary as you think.