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Molecular Genetics of von Recklinghausen Neurofibromatosis

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Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 20))

Abstract

In 1882, Friedrich von Recklinghausen described a clinical syndrome characterized primarily by tumors arising from nerves, called neurofibromas (Crump, 1981; Warkany, 1981). This report is generally recognized as the most thorough paper describing what is now termed von Recklinghausen neurofibromatosis, or neurofibromatosis type one (NF1). However, a number of previous reports in the medical and other literature as well as ancient artworks are also suggestive of NF1, indicating that this disease has likely been present throughout history (Riccardi and Eichner, 1986). NF1 obtained its misleading nickname of “The Elephant Man Disease” from Sir Frederick Treves’ depiction of Joseph Merrick, an Englishman afflicted with a disfiguring disease with features similar to NF1 (Treves, 1923; Rubenstein et al.,Nucleic Acids Res., 1981; Mulvihill, 1990a). NF1 gained much publicity and notoriety because of Merrick, as a widely performed play was written about his life and both the play and the movie based on it remain popular. However, it is now generally accepted that Merrick probably instead had Proteus syndrome, and the association of NF1 with the Elephant Man is being discouraged (Cohen, 1988), although Merrick’s diagnosis cannot be made with certainty (Hotamisligil, 1989).

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Authors and Affiliations

  1. Department of Internal Medicine Howard Hughes Medical Institute, University of Michigan Medical Center, Ann Arbor, Michigan, 18109-0650, USA

    Margaret R. Wallace & Francis S. Collins

  2. Department of Human Genetics Howard Hughes Medical Institute, University of Michigan Medical Center, Ann Arbor, Michigan, 18109-0650, USA

    Margaret R. Wallace & Francis S. Collins

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  1. Margaret R. Wallace
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  2. Francis S. Collins
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Editors and Affiliations

  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor of Human Genetics) (Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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© 1991 Plenum Press, New York

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Wallace, M.R., Collins, F.S. (1991). Molecular Genetics of von Recklinghausen Neurofibromatosis. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 20. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5958-6_5

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  • DOI: https://doi.org/10.1007/978-1-4684-5958-6_5

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