Neurofibromatosis Type 1

Excerpt

Neurofibromatosis type 1 (NF-1) or Von Recklinghausen disease is one of the inheritable neurocutaneous disorders that also harbinger the risk for bone abnormalities, vasculopathy, and cognitive impairment. It is an autosomal dominant disorder. Moreover, it is the most common hamartoma neoplastic syndrome, such as tuberous sclerosis, Gardner, and Cowden syndromes. Other types of neurofibromatosis are Neurofibromatosis type 2 (NF2) and schwannomatosis. Cafe-au-lait macules and neurofibromas are the distinguishing features of NF1. NF2 can have similar cutaneous manifestations as that of NF1. But the hallmark manifestations of NF2 include schwannoma, meningioma, and ependymoma.