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
- 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".[1][2]
- In 1785, English physician Mark Akensidi presents major reports about a patient, café au lait spots, rubbery lesions, cognitive imapirment, and a big head, which he named "wart man".[3]
- In 1830, Prusian anatomist and physician, Theodor Schwann described the nerve sheath cover that later was appreciated as the predominant cell type in neurofibromatosis.[4]
- 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".[5]
- In 1873, German ophtalmologist, Julius von Michel first reported the case of a patient with optic glioma.[3][6]
- 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".[1][4]
- In 1900, English physician A. Thomson describes Neurofibromatosis as an hereditary entity.[4][3]
- In 1909, Suzuki was the first to describe an association between pheochromocytoma and neurofibromatosis type 1.[4][3]
- In 1987, gene linkage studies localised the NF1 gene in chromosome 17.[7]
- In 1987 this condition was uniformly recognized and clasified thanks to the National Institutes of Health (NIH) Consensus Development Conference.[1]
- NF1 was cloned in 1990,[8] and its gene product neurofibromin was identified in 1992.[9]
- In 1999, Nielsen et al. discovered that loss of expression of p16 protein was the cause of malignant transformation in neurofibromatosis type 1.[3][10]
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
- ↑ 1.0 1.1 1.2 Invalid
<ref>tag; no text was provided for refs namedpmid294786152 - ↑ Madigan P, Shaw RV (1988). "Neurofibromatosis in 13th century Austria?". Neurofibromatosis. 1 (5–6): 339–41. PMID 3152487.
- ↑ 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.
- ↑ 4.0 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.
- ↑ 5.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 11.0 11.1 "oraprdnt.uqtr.uquebec.ca" (PDF).
- ↑ 12.0 12.1 "hekint.org".
- ↑ "Joseph Merrick - - Biography".
- ↑ "Mony Yassir | Degrassi Wiki | Fandom".