Von Recklinghausen's disease is an inherited condition caused by genetic mutation. It is more commonly known as
Neurofibromatosis (NF) Type 1. The disease derives its name from the German
pathologist Friedrich Daniel von Recklinghausen who described it in 1882.
NF is autosomal dominant, i.e. you only need to get the abnormal gene from one parent in order for you to inherit the disease.NF is perhaps the most common neurological disorder caused by a single gene. An abnormality in human chromosome 17 leads to the development of Von Recklinghausen''s disease.
Patients develop multiple soft tumours (neurofibromas) and very often skin spots (café au lait spots). NF has a prevalence of 1 in 3000 births.