chapter  58
Neurofibromatosis type 1
ByDavid H. Gutmann, Arie Perry
Pages 14

Neurofibromatosis type 1 (NF1) is a common inherited tumor predisposition syndrome with characteristic cutaneous findings, which have led to its classification as both a hereditary cancer syndrome and a phakomatosis disorder. NF1 has been variably referred to as peripheral neurofibromatosis, due to the presence of peripheral nerve-associated tumors (neurofibromas), von Recklinghausen disease for Frederich von Recklinghausen who described the syndrome in 1882 (von Recklinghausen, 1882), and neurofibromatosis-1 (NF1). The first artistic renderings of NF1 date back to the fifteenth century (Zanca, 1980), and medical reports of this disorder predate the clinical observations of von Recklinghausen by over one hundred years (Akenside, 1785). The hereditary nature of the disorder was recognized at the end of the nineteenth century (Thomson, 1900) and extensively documented in the 1950s (Crowe, et al., 1956).