A history of von Recklinghausen's NF1

Abstract

While the study of genetic diseases is a rather recent development in science, von Recklinghausen's neurofibromatosis (NF1) has a rich pictorial history, seemingly dating back to the thirteenth century. In 1768, Akenside published a scientifically-based description of NF1, recognizing that the monsters of scholars, such as Parè and Aldrovandi, in fact suffered from a disorder of the nerves. The neuromas of NF1 were first detailed by Smith in 1849, but Frederick von Recklinghausen is credited with its discovery and coined the name of the disorder in 1882. NF1 research widely increased between 1909 and 1990, due to the erroneous diagnosis of the Elephant Man, Joseph Merrick.