About a diagnosis of neurofibromatosis type 1 - Von Recklinghausen's disease

Abstract

NF1 is a hereditary, autosomal dominant neurocutaneous disorder with high clinical variability and that has a progressive course. It is characterized by colored spots called "coffee with milk", Lisch nodules in the iris, axillary or inguinal freckles and multiple tumors of nervous tissue or neurofibromas that can be located anywhere in the body, either in the subcutaneous tissue or in the nerves of the brain (cranial nerves) and the spinal cord (nerves or spinal pairs) 2.
If either parent has NF1, each child has a 50% chance of developing the disease. However, it can also appear in families without a history. In these cases, it is due to the mutation of a gene for a protein called neurofibromin, in the spermatozoon or in the ovule3