What is neurofibromatosis type I?

  Neurofibromatosis type I, also known as VonRechklinghausen neurofibromatosis type I, is characterized by multiple cutaneous café au lait and neurofibromas as the main clinical manifestations.  The incidence is about 1/3000~1/4000. Genetics NF1 is an autosomal dominant disorder. The NF1 gene is located at 17q11.2 and encodes guanosine triphosphate activating protein (GAP)-neurofibromin. Diagnosis is based on 2 or more of the following criteria: ① 6 or more cutaneous café au lait spots. ② 2 or more neurofibromas of any type or the presence of a plexiform neurofibroma ③ axillary or inguinal freckles ④ optic nerve glioma ⑤ 2 or more iris malformations (Lisch nodes) ⑥ significant bone disease, such as pterygoid dysplasia, thinning of the bone cortex with or without pseudarthrosis ⑦ first-degree relatives (The disease is genetically inherited and cannot be cured. It can only be treated by surgical excision of the lesion causing the patient’s symptoms.