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Neurofibromatosis Type 1
Richard P. Morse, MD
Arch Neurol. 1999;56:364-365.
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INTRODUCTION
Neurofibromatosis (NF) has perhaps been the most notorious of the neurocutaneous disorders. Both Quasimoto of Victor Hugo's The Hunchback of Notre Dame and John Merrick, known as the Elephant Man (who subsequently has been more properly classified as having Proteus syndrome, a quite different disorder), are 2 infamous examples that have shaped many popular misconceptions about this disease. Neurofibromatosis is now understood as a hamartomatous disorder on the basis of molecular genetic studies. Studies on NF have been pivotal to understanding the functions of oncogenes in tumorigenesis.
EARLY DESCRIPTIONS
The history of neurofibromatosis (NF) (in this case type 1, or von Recklinghausen disease) can be traced to ancient times, if descriptions of grotesque or distorted persons are considered.1-4 A 13th-century drawing of a man with skin nodules by a Cistercian monk named Heinricius3 has been suggested to depict a patient with NF. In 1592, Ulisse Aldrovandi,5 an Italian . . . [Full Text of this Article]
VIRCHOW
VON RECKLINGHAUSEN
From the Department of Pediatrics, Division of Neurology, Duke University Medical Center, Durham, NC.
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J. Med. Genet. 2003;40:227-232.
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