Michel Bur - Case Study #2 of Dr. von Recklinghausen - Neurofibromatosis 1
Though some characteristics of the disease were already known (namely its heritable nature and its vastly variable degrees of severity) Frederich Daniel von Recklinghausen wrote the first work on the true etiology of NF, which is why it’s still referred to in some textbooks as “[von] Recklinghausen disease”.
He noted that the soft-tissue tumors easily visible on the skin arose from the nerve sheaths, and the internal tumors often found on the optic nerves and gastrointestinal system had the same origin. Recklinghausen also recorded several of the diagnostic signs that were unique to (or very rare outside of) neurofibromatosis, such as Lisch nodules on the iris of the eye.
Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Frederich Daniel von Recklinghausen, 1882.