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These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480\u20141650 AD),<jats:italic>Ulisse Aldrovandi's homuncio<\/jats:italic>(\u201c<jats:italic>Monstrorum Historia<\/jats:italic>\u201d, 1592 A.D.) with<jats:italic>mosaic NF1<\/jats:italic>or the illustrations seen in the 18th century \u201c<jats:italic>Buffon's Histoire Naturelle<\/jats:italic>\u201d and \u201c<jats:italic>Cruveilhier's Anatomie Pathologique du Corps Human<\/jats:italic>\u201d. The first English language report on NF1 was made by<jats:italic>Akenside<\/jats:italic>in 1768 and the first systematic review by<jats:italic>Robert William Smith<\/jats:italic>in 1849, while Virchow's pupil,<jats:italic>Friedrich Daniel von Recklinghausen<\/jats:italic>, in 1882, was the first to understand the origin of skin tumors and to name them neurofibromas. The touching story of<jats:italic>Joseph C. Merrick<\/jats:italic>(the \u201c<jats:italic>Elephant man<\/jats:italic>,\u201d (who had Proteus syndrome and not NF1), in 1884, played an important role in the later misconception of NF1, as did the novel by Vicotr Hugo on the hunchback<jats:italic>Quasimodo<\/jats:italic>. The studies by van der Hoeve (1921), Yakovlev and Guthrie (1931), and Van Bogaert (1935), categorized \u201cvon Recklinghausen's\u201d neurofibromatosis among the phakomatoses and the neurocutaneous syndromes. The first known mention of an acoustic neuroma (at autopsy) is attributed to<jats:italic>Eduard Sandifort<\/jats:italic>(1777 AD) while<jats:italic>John H. Wishart<\/jats:italic>made the earliest autoptic description of<jats:italic>neurofibromatosis type 2<\/jats:italic>(NF2), in 1822, in a 21\u2010year\u2010old man with bilateral acoustic neuromas, who manifested signs since his infancy (Wishart subtype NF2).<jats:italic>Smith<\/jats:italic>likely described the first case of<jats:italic>schwannomatosis<\/jats:italic>in 1849.<jats:italic>Older, Virchow, von Recklinghausen<\/jats:italic>, and<jats:italic>Verocay<\/jats:italic>first classified \u201cneuromas\u201d and<jats:italic>Masson<\/jats:italic>and<jats:italic>Penfield<\/jats:italic>first used the word \u201c<jats:italic>schwannoma<\/jats:italic>\u201d taking it from<jats:italic>Theodore Schwann's<\/jats:italic>works. In 1903<jats:italic>Henneberg<\/jats:italic>and<jats:italic>Koch<\/jats:italic>described NF2 in detail.<jats:italic>Young, Eldridge<\/jats:italic>, and<jats:italic>Gardner<\/jats:italic>, in the late \u201870, established NF2 as a distinct familial entity (Gardner subtype NF2).<jats:italic>Schwannomatosis<\/jats:italic>, the late entry of the different forms of neurofibromatosis, was credited in the middle \u201890.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38486","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T09:20:36Z","timestamp":1517476836000},"page":"515-550","source":"Crossref","is-referenced-by-count":53,"title":["Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2658-4249","authenticated-orcid":false,"given":"Martino","family":"Ruggieri","sequence":"first","affiliation":[{"name":"Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea D.","family":"Pratic\u00f2","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Caltabiano","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Advanced Technologies \u201cG. 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