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.

Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms

“…The earliest examples of individuals having (skin) nodules resembling neurofibromas (or plexiform neurofibromas) [1,6,60,64,66,67,68,70,71] can be traced in (a description contained in) the Ebers Papyrus from Ancient Egypt (1.500 BC) [72], in a Hellenistic statuette (Smyrna,323 BC) [33,46,60], in the coinage of the Parthian kings (247 BC) [3,75,89], in the manuscript called Cotton Tiberius B.v. (fourth century AD) [66,100,101] and in a thirteenth century drawing by a Cistercian monk named Heinricus [51,54]. Additional descriptions of "grotesque" or distorted individuals (or monsters) are traced in the fifteenth century "Buch der Natur" (Book of Nature) by Konrad von Magenberg [54,100,101], in the sixteenth century treatise "Des monstres et prodiges" ("On Monsters and Marvels") by Ambroise Paré [54,66] and in a xylograph by José de Ribeira also known as "Lo Spagnoletto" (the Little Spaniard) [66,100,101].…”

“…The first clinical description of a case is attributed to the Italian physician and naturalist Ulisse Aldrovandi [8,66,79,85], who in the "Monstrorum Historia" (1592 AD) described a man of short stature (homuncio) with a large tumour resembling an isolated plexiform neurofibroma [6,37,48,100] (first possible example of mosaic NF1) [64,67,68,70]. A further example is likely portrayed in a large figure of a head carved in lindenwood, which supports one of the walls under the galleries and balconies of the library of the Cistercian monastery of Waldassen in Germany and known as the (oriental) "curious fool" [25,60,61,66,100,101].…”

“…As in many diseases, exactly which was the first case report of "neurofibromatosis" and who truly deserves the eponymous for credit have been a matter of debate [6,42,66]. Certainly, in the past centuries, several renowned "patients" taken from fiction or reality have been labelled as having this condition and, among all, Joseph Merrick also known as the "elephant man" [11,41,77,87] and Quasimodo the "hunchback" of "Notre Dame de Paris" by Victor Hugo [12,76] are two infamous examples who played an important role in the distorted popular misconception of the disease.…”

“…Certainly, in the past centuries, several renowned "patients" taken from fiction or reality have been labelled as having this condition and, among all, Joseph Merrick also known as the "elephant man" [11,41,77,87] and Quasimodo the "hunchback" of "Notre Dame de Paris" by Victor Hugo [12,76] are two infamous examples who played an important role in the distorted popular misconception of the disease. The history of neurofibromatosis (in this case neurofibromatosis type 1-NF1), in fact, can be traced to ancient times, if descriptions of grotesque or distorted persons are considered [1,6,37,42,51,54,100].…”

“…Similarly, reports of early examples of neurofibromatosis type 2 (NF2) or schwannomatosis sufferers can be traced in descriptions, illustrations or portraits dated as far back as the eighteenth century [1,6,42].…”