Due to the presence of a daughter with a previous diagnosis of NF1 gene mutation, and the presence of small neurofibromas over the patient’s body, a genetic test for NF1 using reverse transcription (RT)-PCR and high throughput-denaturing high performance liquid chromatography (HT-DHPLC) was performed, confirming the diagnosis of von Recklinghausen’s disease. This evidence concerns the gene NF1 and plexiform neurofibroma.