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{{Neurofibromatosis type 1}}
{{Neurofibromatosis type 1}}


{{CMG}}; {{AE}}
{{CMG}} {{AE}}[[User:MoisesRomo|Moises Romo M.D.]]
==Overview==
==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.<ref name="pmid294786152">{{cite journal |vauthors=Cimino PJ, Gutmann DH |title=Neurofibromatosis type 1 |journal=Handb Clin Neurol |volume=148 |issue= |pages=799–811 |date=2018 |pmid=29478615 |doi=10.1016/B978-0-444-64076-5.00051-X |url=}}</ref>
'''[[Neurofibromatosis type 1]]''' was fully described in1882 by German [[pathologyst]] [[Friedrich von Recklinghausen]], for which the disorder was [[Eponyms|eponymously]] named after him (von Recklinghausen disease), although the recognition of individuals with this [[phenotype]] probably dates back from the [[Hellenistic era]].<ref name="pmid294786152">{{cite journal |vauthors=Cimino PJ, Gutmann DH |title=Neurofibromatosis type 1 |journal=Handb Clin Neurol |volume=148 |issue= |pages=799–811 |date=2018 |pmid=29478615 |doi=10.1016/B978-0-444-64076-5.00051-X |url=}}</ref>
==Discovery==
==Discovery==


*The first description of inviduals with Neurofibromatosis type 1 phenotype dates back from the XIV century, and probably even the Hellenistic era, made by Madigan, Schaw, and Masello, described as a "''monstruous disease''".<ref name="pmid294786152" /><ref name="pmid3152487">{{cite journal |vauthors=Madigan P, Shaw RV |title=Neurofibromatosis in 13th century Austria? |journal=Neurofibromatosis |volume=1 |issue=5-6 |pages=339–41 |date=1988 |pmid=3152487 |doi= |url=}}</ref>
*The first [[Description logic|description]] of [[inviduals]] with Neurofibromatosis type 1 [[phenotype]] dates back from the XIV [[century]], and probably even the Hellenistic era, made by Madigan, Schaw, and Masello, described as a "''monstruous disease''".<ref name="pmid294786152" /><ref name="pmid3152487">{{cite journal |vauthors=Madigan P, Shaw RV |title=Neurofibromatosis in 13th century Austria? |journal=Neurofibromatosis |volume=1 |issue=5-6 |pages=339–41 |date=1988 |pmid=3152487 |doi= |url=}}</ref>
*In 1785, English physician Mark Akensidi presents major reports about a patient, ''café au lait'' spots, rubbery lesions, and cognitive imapirment, and a big head, which he named "wart man".<ref name="AntonioGoloni-Bertollo20133">{{cite journal|last1=Antonio|first1=Joao Roberto|last2=Goloni-Bertollo|first2=Eny Maria|last3=Tridico|first3=Livia Arroyo|title=Neurofibromatosis: chronological history and current issues|journal=Anais Brasileiros de Dermatologia|volume=88|issue=3|year=2013|pages=329–343|issn=0365-0596|doi=10.1590/abd1806-4841.20132125}}</ref>
*In 1785, English physician Mark Akensidi presents major reports about a patient, [[Café au lait spot|''café au lait'' spots]], [[Neurofibroma|rubbery lesions]], cognitive imapirment, and a [[Macrocephaly|big head]], which he named "wart man".<ref name="AntonioGoloni-Bertollo20133">{{cite journal|last1=Antonio|first1=Joao Roberto|last2=Goloni-Bertollo|first2=Eny Maria|last3=Tridico|first3=Livia Arroyo|title=Neurofibromatosis: chronological history and current issues|journal=Anais Brasileiros de Dermatologia|volume=88|issue=3|year=2013|pages=329–343|issn=0365-0596|doi=10.1590/abd1806-4841.20132125}}</ref>
*In 1830, Prusian anatomist and physician, Theodor Schwann described the nerve sheath cover that later was appreciated as the predominant cell type in neurofibromatosis.<ref name="pmid4051782">{{cite journal |vauthors=Wander JV, Das Gupta TK |title=Neurofibromatosis |journal=Curr Probl Surg |volume=14 |issue=2 |pages=1–81 |date=February 1977 |pmid=405178 |doi=10.1016/s0011-3840(77)80002-6 |url=}}</ref>
*In 1830, Prusian [[anatomist]] and [[physician]], Theodor Schwann described the [[nerve sheath]] cover that later was appreciated as the predominant [[Cell (biology)|cell]] type in [[neurofibromatosis]].<ref name="pmid4051782">{{cite journal |vauthors=Wander JV, Das Gupta TK |title=Neurofibromatosis |journal=Curr Probl Surg |volume=14 |issue=2 |pages=1–81 |date=February 1977 |pmid=405178 |doi=10.1016/s0011-3840(77)80002-6 |url=}}</ref>
*In 1847, Prusian pathologist, Rudolf Virchow stated that connective tissue tumors that contained nerves, should be classified apart from those that do not contain nerves, naming them "''fibroma molluscum"'' or "''elephantiasis molluscum"''.<ref name="pmid20938857">{{cite journal |vauthors=Brosius S |title=A history of von Recklinghausen's NF1 |journal=J Hist Neurosci |volume=19 |issue=4 |pages=333–48 |date=October 2010 |pmid=20938857 |doi=10.1080/09647041003642885 |url=}}</ref>
*In 1847, Prusian [[pathologist]], Rudolf Virchow stated that [[connective tissue]] [[tumors]] that contained [[Nerve|nerves]], should be classified apart from those that do not contain [[Nerve|nerves]], naming them "''fibroma molluscum"'' or "''elephantiasis molluscum"''.<ref name="pmid20938857">{{cite journal |vauthors=Brosius S |title=A history of von Recklinghausen's NF1 |journal=J Hist Neurosci |volume=19 |issue=4 |pages=333–48 |date=October 2010 |pmid=20938857 |doi=10.1080/09647041003642885 |url=}}</ref>
*In 1873, German ophtalmologist, Julius von Michel first reported the case of a patient with optic glioma.<ref name="AntonioGoloni-Bertollo20133" /><ref name="pmid405178">{{cite journal |vauthors=Wander JV, Das Gupta TK |title=Neurofibromatosis |journal=Curr Probl Surg |volume=14 |issue=2 |pages=1–81 |date=February 1977 |pmid=405178 |doi=10.1016/s0011-3840(77)80002-6 |url=}}</ref>
*In 1873, German [[ophtalmologist]], Julius von Michel first reported the case of a patient with [[Optic nerve glioma|optic glioma]].<ref name="AntonioGoloni-Bertollo20133" /><ref name="pmid405178">{{cite journal |vauthors=Wander JV, Das Gupta TK |title=Neurofibromatosis |journal=Curr Probl Surg |volume=14 |issue=2 |pages=1–81 |date=February 1977 |pmid=405178 |doi=10.1016/s0011-3840(77)80002-6 |url=}}</ref>
*In 1882, German pathologist, Friedrich von Recklinghause systemically described Neurofibromatosis type 1 with the presentation of two of his patients, recognizing it as a nosologic entity in his treatise "''Über die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen''".<ref name="pmid294786152" /><ref name="pmid4051782" />
*In 1882, German [[pathologist]], Friedrich von Recklinghause systemically described [[neurofibromatosis type 1]] with the presentation of two of his patients, recognizing it as a [[nosologic]] entity in his treatise "''Über die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen''".<ref name="pmid294786152" /><ref name="pmid4051782" />
*In 1900, English physician A. Thomson describes Neurofibromatosis as an hereditary entity.<ref name="pmid4051782" /><ref name="AntonioGoloni-Bertollo20133" />
*In 1900, English [[physician]] A. Thomson describes Neurofibromatosis as an [[Heredity|hereditary]] entity.<ref name="pmid4051782" /><ref name="AntonioGoloni-Bertollo20133" />
*In 1909, Suzuki was the first to describe an association between pheochromocytoma and neurofibromatosis type 1.<ref name="pmid4051782" /><ref name="AntonioGoloni-Bertollo20133" />
*In 1909, Suzuki was the first to describe an association between pheochromocytoma and neurofibromatosis type 1.<ref name="pmid4051782" /><ref name="AntonioGoloni-Bertollo20133" />
*In 1987, gene linkage studies localised the NF1 gene in chromosome 17.<ref name="pmid26860753">{{cite journal |vauthors=Rad E, Tee AR |title=Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer |journal=Semin. Cell Dev. Biol. |volume=52 |issue= |pages=39–46 |date=April 2016 |pmid=26860753 |doi=10.1016/j.semcdb.2016.02.007 |url=}}</ref>
*In 1987, [[gene]] linkage studies localised the [[NF1|NF1 gene]] in [[chromosome 17]].<ref name="pmid26860753">{{cite journal |vauthors=Rad E, Tee AR |title=Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer |journal=Semin. Cell Dev. Biol. |volume=52 |issue= |pages=39–46 |date=April 2016 |pmid=26860753 |doi=10.1016/j.semcdb.2016.02.007 |url=}}</ref>
*In 1987 this condition was uniformly recognized and clasified thanks to the National Institutes of Health (NIH) Consensus Development Conference.<ref name="pmid294786152" />
*In 1987 this condition was uniformly recognized and clasified thanks to the [[National Institutes of Health|National Institutes of Health (NIH)]] Consensus Development Conference.<ref name="pmid294786152" />
*''NF1'' was cloned in 1990,<ref name="pmid1694727">{{cite journal |vauthors=Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA |title=Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus |journal=Cell |volume=62 |issue=1 |pages=187–92 |date=July 1990 |pmid=1694727 |doi=10.1016/0092-8674(90)90252-a |url=}}</ref> and its gene product neurofibromin was identified in 1992.<ref name="pmid1550670">{{cite journal |vauthors=Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N |title=The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes |journal=Neuron |volume=8 |issue=3 |pages=415–28 |date=March 1992 |pmid=1550670 |doi=10.1016/0896-6273(92)90270-n |url=}}</ref>
*''NF1'' was [[Cloning|cloned]] in 1990,<ref name="pmid1694727">{{cite journal |vauthors=Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA |title=Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus |journal=Cell |volume=62 |issue=1 |pages=187–92 |date=July 1990 |pmid=1694727 |doi=10.1016/0092-8674(90)90252-a |url=}}</ref> and its [[gene]] product [[neurofibromin]] was identified in 1992.<ref name="pmid1550670">{{cite journal |vauthors=Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N |title=The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes |journal=Neuron |volume=8 |issue=3 |pages=415–28 |date=March 1992 |pmid=1550670 |doi=10.1016/0896-6273(92)90270-n |url=}}</ref>
*In 1999, Nielsen et al. discovered that loss of expression of p16 protein was the cause of malignant transformation in neurofibromatosis type 1.<ref name="AntonioGoloni-Bertollo20133" /><ref name="pmid10595918">{{cite journal |vauthors=Nielsen GP, Stemmer-Rachamimov AO, Ino Y, Moller MB, Rosenberg AE, Louis DN |title=Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation |journal=Am. J. Pathol. |volume=155 |issue=6 |pages=1879–84 |date=December 1999 |pmid=10595918 |pmc=1866954 |doi=10.1016/S0002-9440(10)65507-1 |url=}}</ref>
*In 1999, Nielsen et al. discovered that loss of expression of [[p16 protein]] was the cause of [[malignant]] transformation in [[neurofibromatosis type 1]].<ref name="AntonioGoloni-Bertollo20133" /><ref name="pmid10595918">{{cite journal |vauthors=Nielsen GP, Stemmer-Rachamimov AO, Ino Y, Moller MB, Rosenberg AE, Louis DN |title=Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation |journal=Am. J. Pathol. |volume=155 |issue=6 |pages=1879–84 |date=December 1999 |pmid=10595918 |pmc=1866954 |doi=10.1016/S0002-9440(10)65507-1 |url=}}</ref>


==Cultural history of Neurofibromatosis type 1==
==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, were he was cruely exhibited in circuses as a phenomenon. Joseph was born as a healthy child in 1862, but started to develope typical characteristics of the disease at age 2.<ref name="urloraprdnt.uqtr.uquebec.ca">{{cite web |url=https://oraprdnt.uqtr.uquebec.ca/pls/public/docs/GSC233/F432355407_Joseph_Carey_Merrick.pdf |title=oraprdnt.uqtr.uquebec.ca |format= |work= |accessdate=}}</ref> By age 22, Merrick presented dysmorphic facies, a big head-size, skin and bone deformities, but surprisingly, no cognitive impairment. He quoted:
*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, were he was cruely exhibited in circuses as a phenomenon. Joseph was born as a healthy child in 1862, but started to develope typical characteristics of the disease at age 2.<ref name="urloraprdnt.uqtr.uquebec.ca">{{cite web |url=https://oraprdnt.uqtr.uquebec.ca/pls/public/docs/GSC233/F432355407_Joseph_Carey_Merrick.pdf |title=oraprdnt.uqtr.uquebec.ca |format= |work= |accessdate=}}</ref> By age 22, Merrick presented dysmorphic facies, a big head-size, 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''".
"''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''".
Line 28: Line 28:
''"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.''<ref name="urlhekint.org">{{cite web |url=https://hekint.org/2020/05/08/joseph-merrick-the-elephant-man/ |title=hekint.org |format= |work= |accessdate=}}</ref>
''"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.''<ref name="urlhekint.org">{{cite web |url=https://hekint.org/2020/05/08/joseph-merrick-the-elephant-man/ |title=hekint.org |format= |work= |accessdate=}}</ref>


*This patient was the ispiration for the 1980 movie "The Elephant Man", by david Lynch.
*This patient was the ispiration for the 1980 movie "[[The Elephant Man]]", by david Lynch.


==Impact of Neurofibromatosis type 1==
==Impact of Neurofibromatosis type 1==
Society's acceptance and understanding for neurofibromatosis type 1 has changed drastically over the time; from beign a so-called a "montruous disease", to a well known entity now in day, compassion have 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 histoty of this disease, decreasing mortality and now focusing on a more multidysciplinary management.<ref name="pmid20938857" />
Society's acceptance and understanding for [[neurofibromatosis type 1]] has changed drastically over the time; from beign a so-called a "montruous disease", to a well known entity now in day, compassion have 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, complications and prognosis template|natural history]] of this disease, decreasing [[Mortality rate|mortality]] and now focusing on a more [[multidysciplinary]] management.<ref name="pmid20938857" />
==Famous cases of Neurofibromatosis type 1==
==Famous cases of Neurofibromatosis type 1==
Joseph Merrick (the elephant man)<ref name="urlJoseph Merrick - - Biography">{{cite web |url=https://www.biography.com/performer/elephant-man-joseph-merrick |title=Joseph Merrick - - Biography |format= |work= |accessdate=}}</ref><ref name="urlhekint.org" /><ref name="urloraprdnt.uqtr.uquebec.ca" />
Joseph Merrick (the elephant man)<ref name="urlJoseph Merrick - - Biography">{{cite web |url=https://www.biography.com/performer/elephant-man-joseph-merrick |title=Joseph Merrick - - Biography |format= |work= |accessdate=}}</ref><ref name="urlhekint.org" /><ref name="urloraprdnt.uqtr.uquebec.ca" />

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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.[1]

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, were he was cruely exhibited in circuses as a phenomenon. Joseph was born as a healthy child in 1862, but started to develope typical characteristics of the disease at age 2.[11] By age 22, Merrick presented dysmorphic facies, a big head-size, 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 ispiration 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 beign a so-called a "montruous disease", to a well known entity now in day, compassion have 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

Joseph Merrick (the elephant man)[13][12][11]

Munya Yassir (actress)[14]

Aaron Anderson (brother of actress Gillian Anderson)[15]

Nick Gilbert (son of Cleveland-Cavaliers owner, Dan Gilberet)[16]

Alexander Owens[16]

References

  1. ↑ 1.0 1.1 1.2 1.3 Cimino PJ, Gutmann DH (2018). "Neurofibromatosis type 1". Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.
  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".
  15. ↑ "Gillian Anderson - Wikipedia, la enciclopedia libre".
  16. ↑ 16.0 16.1 "4 Famous People With Neurofibromatosis (Alexander Owens)".

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