Neurofibromatosis type 1 historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Moises Romo M.D.

Overview

Neurofibromatosis type 1 was fully described in1882 by German pathologyst Friedrich von Recklinghausen, for which the disorder was eponymously named after him (von Recklinghausen disease), although the recognition of individuals with this phenotype probably dates back from the Hellenistic era.

Discovery

Cultural history of Neurofibromatosis type 1

  • Probably the most famous case of neurofibromatosis type 1 was described in 1888, in England, with Joseph Merrick, the "elephant man". This man had a difficult life, and was cruelly exhibited in circuses as a phenomenon. Joseph was born as a healthy child in 1862, but started to develop typical characteristics of the disease at age 2.[11] By age 22, Merrick presented dysmorphic facies, macrocephaly, skin and bone deformities, but surprisingly, no cognitive impairment. He quoted:

"The deformity I am exhibiting now is because an elephant scared my mother; she walked down the street as a procession of animals paraded. A huge crowd gathered to watch them, and unfortunately, they pushed my mother under the feet of an elephant. She was very scared. She was pregnant with me, and this misfortune was the cause of my deformity".

"Is true that my form is something odd, but blaming me is blaming God; Could I create myself anew would not fail pleasing you.If I could reach from pole to pole or grasp the ocean with a span, I would be measured by the soul. The mind´s the standard of the man.[12]

  • This patient was the inspiration for the 1980 movie "The Elephant Man", by David Lynch.

Impact of Neurofibromatosis type 1

  • Society's acceptance and understanding for neurofibromatosis type 1 has changed drastically over the time; from being a so-called a "monstrous disease", to a well-known entity now in the day, compassion has grown for those individuals suffering from this condition thanks to the many research behind its behavior and characteristics. Advances in its treatment have made a great impact in the natural history of this disease, decreasing mortality and now focusing on a more multidysciplinary management.[5]

Famous cases of Neurofibromatosis type 1

References

  1. 1.0 1.1 1.2
  2. Madigan P, Shaw RV (1988). "Neurofibromatosis in 13th century Austria?". Neurofibromatosis. 1 (5–6): 339–41. PMID 3152487.
  3. 3.0 3.1 3.2 3.3 3.4 Antonio, Joao Roberto; Goloni-Bertollo, Eny Maria; Tridico, Livia Arroyo (2013). "Neurofibromatosis: chronological history and current issues". Anais Brasileiros de Dermatologia. 88 (3): 329–343. doi:10.1590/abd1806-4841.20132125. ISSN 0365-0596.
  4. 4.0 4.1 4.2 4.3 Wander JV, Das Gupta TK (February 1977). "Neurofibromatosis". Curr Probl Surg. 14 (2): 1–81. doi:10.1016/s0011-3840(77)80002-6. PMID 405178.
  5. 5.0 5.1 Brosius S (October 2010). "A history of von Recklinghausen's NF1". J Hist Neurosci. 19 (4): 333–48. doi:10.1080/09647041003642885. PMID 20938857.
  6. Wander JV, Das Gupta TK (February 1977). "Neurofibromatosis". Curr Probl Surg. 14 (2): 1–81. doi:10.1016/s0011-3840(77)80002-6. PMID 405178.
  7. Rad E, Tee AR (April 2016). "Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer". Semin. Cell Dev. Biol. 52: 39–46. doi:10.1016/j.semcdb.2016.02.007. PMID 26860753.
  8. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA (July 1990). "Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus". Cell. 62 (1): 187–92. doi:10.1016/0092-8674(90)90252-a. PMID 1694727.
  9. Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (March 1992). "The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes". Neuron. 8 (3): 415–28. doi:10.1016/0896-6273(92)90270-n. PMID 1550670.
  10. Nielsen GP, Stemmer-Rachamimov AO, Ino Y, Moller MB, Rosenberg AE, Louis DN (December 1999). "Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation". Am. J. Pathol. 155 (6): 1879–84. doi:10.1016/S0002-9440(10)65507-1. PMC 1866954. PMID 10595918.
  11. 11.0 11.1 "oraprdnt.uqtr.uquebec.ca" (PDF).
  12. 12.0 12.1 "hekint.org".
  13. "Joseph Merrick - - Biography".
  14. "Mony Yassir | Degrassi Wiki | Fandom".

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