Who Discovered Neurofibromatosis


Neurofibromatosis type 1 (NF1), formerly called von Recklinghausen disease, is a common neurogenetic condition. Descriptions in art and literature of what is thought to be the condition go back as far back as 1500 BC. In 1882 the disease entity was fully recognized when the German pathologist Frederick von Recklinghausen published his monograph “On Multiple Fibromas of the Skin and Their Relationship to Multiple Neuromas”1, in which he described the disease as well as the origin of skin tumors.

However, in his “Treatise on the Pathology, Diagnosis and Treatment of Neuroma”2, the Irish surgeon Robert William Smith MD described neurofibromatosis 33 years before von Recklinghausen.

It took until 1956 for Frank Crowe and his colleagues3 to recognize NF1 as a hereditary disease, affecting 50% of offspring.

Neurofibromatosis refers collectively to three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and the rarer schwannomatosis. It is caused by a genetic mutation in certain oncogenes, with different mutations resulting in the three types of NF.

  1. von Recklinghausen FV. Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den Multiplen Neuromen. Berlin, Germany: August Hirschwald; 1882 ↩︎

  2. Smith, Robert William (1849). A Treatise on the Pathology, Diagnosis and Treatment of Neuroma. Dublin: Hodges & Smith. ↩︎

  3. Crowe F, Schull W, Neel J (1956). A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis, Charles C Thomas, Springfield, IL ↩︎