{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:43:05Z","timestamp":1792284185819,"version":"4.4.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2017,1,11]],"date-time":"2017-01-11T00:00:00Z","timestamp":1484092800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1007\/s10072-016-2797-1","type":"journal-article","created":{"date-parts":[[2017,1,11]],"date-time":"2017-01-11T11:10:48Z","timestamp":1484133048000},"page":"493-499","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Rediagnosing one of Smith\u2019s patients (John McCann) with \u201cneuromas tumours\u201d (1849)"],"prefix":"10.1007","volume":"38","author":[{"given":"Martino","family":"Ruggieri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea D.","family":"Pratic\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Caltabiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Polizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,1,11]]},"reference":[{"key":"2797_CR1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-016-3226-8","author":"M Ruggieri","year":"2016","unstructured":"Ruggieri M, Pratic\u00f2 AD, Serra A, Maiolino L, Cocuzza S, Caltabiano R, Polizzi A (2016) Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers beyond the eponyms. Child Nerv Syst. doi: 10.1007\/s00381-016-3226-8","journal-title":"Child Nerv Syst"},{"key":"2797_CR2","volume-title":"A treatise on the pathology, diagnosis and treatment of neuromas","author":"RW Smith","year":"1849","unstructured":"Smith RW (1849) A treatise on the pathology, diagnosis and treatment of neuromas. Hodges & Smith, Dublin"},{"key":"2797_CR3","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1056\/NEJM192906272002601","volume":"200","author":"JF Fulton","year":"1929","unstructured":"Fulton JF, Robert W (1929) Smith\u2019s description of generalised neurofibromatosis. N Engl J Med 200:1315\u20131317","journal-title":"N Engl J Med"},{"key":"2797_CR4","volume-title":"The neurofibromatoses: pathogenetic and clinical overview","author":"SM Huson","year":"1994","unstructured":"Huson SM, Hughes RAC (1994) The neurofibromatoses: pathogenetic and clinical overview. Chapman & Hall, London"},{"key":"2797_CR5","unstructured":"Von Recklinghausen FD (1882) Uber ide multiplen Fibrome der Haut und ihre beziehung zu den multiplen Neuromen. Hirschwald, Berlin 1882:3\u201318"},{"key":"2797_CR6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1080\/09647049209525516","volume":"1","author":"JB Lyons","year":"1992","unstructured":"Lyons JB, Staunton H (1992) Neurofibromatosis: why not Smith\u2019s disease? J Hist Neurosci 1:65\u201373","journal-title":"J Hist Neurosci"},{"key":"2797_CR7","first-page":"6","volume-title":"A treatise on fractures in the vicinity of joints and on certain forms of accidental and congenital dislocations","author":"RW Smith","year":"1847","unstructured":"Smith RW (1847) A treatise on fractures in the vicinity of joints and on certain forms of accidental and congenital dislocations. Hodges and Smith, Dublin, pp 6\u2013164"},{"key":"2797_CR8","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1016\/j.jhsa.2007.12.020","volume":"33A","author":"HM Shah","year":"2008","unstructured":"Shah HM, Chung KC (2008) Robert William Smith: his life and his contributions to Medicine. J Hand Surg 33A:948\u2013951","journal-title":"J Hand Surg"},{"key":"2797_CR9","unstructured":"Robert William Smith EO (2016). http:\/\/www.whonamedit.com\/doctor.cfm\/1928.htlm . Accessed 3 Dec 2016"},{"key":"2797_CR10","unstructured":"Department of History, Trinity College of Dublin (2016). http:\/\/www.medicine.ted.ie\/surgery\/history.php . Accessed 3 Dec 2016"},{"key":"2797_CR11","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s100720050017","volume":"20","author":"M Ruggieri","year":"1999","unstructured":"Ruggieri M, Huson SM (1999) The neurofibromatoses. An overview. Neurol Sci 20:89\u2013108","journal-title":"Neurol Sci"},{"key":"2797_CR12","volume-title":"Pathology and genetics. Tumours of the nervous system","author":"P Kleihues","year":"2000","unstructured":"Kleihues P, Cavenee WK (2000) Pathology and genetics. Tumours of the nervous system. IARC Press, Lyon"},{"key":"2797_CR13","unstructured":"Burger PC, Scheithauer BW, Vogel FS (2002) Surgical pathology of the nervous system and its coverings, 4th edn. Churchill Livingstone, London, p 595"},{"key":"2797_CR14","first-page":"853","volume-title":"Soft tissue tumors, 5th edn","author":"Enzinger & Weiss\u2019s","year":"2008","unstructured":"Enzinger & Weiss\u2019s (2008) Soft tissue tumors, 5th edn. Mosby Elsevier, Philadelphia, p 853"},{"key":"2797_CR15","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-4-16","volume":"4","author":"DG Evans","year":"2009","unstructured":"Evans DG (2009) Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 4:16","journal-title":"Orphanet J Rare Dis"},{"key":"2797_CR16","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.spen.2015.10.008","volume":"22","author":"M Ruggieri","year":"2015","unstructured":"Ruggieri M, Pratic\u00f2 AD, Evans DG (2015) Diagnosis, management and new therapeutic options in childhood neurofibromatosis type 2 (NF2) and related disorders. Semin Pediatr Neurol 22:240\u2013258","journal-title":"Semin Pediatr Neurol"},{"key":"2797_CR17","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1212\/01.wnl.0000201190.89751.41","volume":"66","author":"ME Baser","year":"2006","unstructured":"Baser ME, Friedman JM, Evans DG (2006) Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 66:730\u2013732","journal-title":"Neurology"},{"key":"2797_CR18","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/ajmg.a.34376","volume":"158A","author":"MJ Smith","year":"2012","unstructured":"Smith MJ, Kulkarni A, Rustad C et al (2012) Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. Am J Med Genet A 158A:215\u2013219","journal-title":"Am J Med Genet A"},{"key":"2797_CR19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.a.35760","volume":"161A","author":"SR Plotkin","year":"2013","unstructured":"Plotkin SR, Blakeley JO, Evans DG et al (2013) Update from the 2011 international schwannomatosis workshop: from genetics to diagnostic criteria. Am J Med Genet A 161A:405\u2013416","journal-title":"Am J Med Genet A"},{"key":"2797_CR20","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1212\/WNL.0000000000003418","volume":"88","author":"MJ Smith","year":"2017","unstructured":"Smith MJ, Bowers NL, Bulman M et al (2017) Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology 88:87\u201392","journal-title":"Neurology"},{"key":"2797_CR21","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1055\/s-2005-837581","volume":"36","author":"M Ruggieri","year":"2005","unstructured":"Ruggieri M, Iannetti P, Polizzi A et al (2005) Earliest clinical manifestations and natural history of neurofibromatosis type 2 in childhood: a study of 24 patients. Neuropediatrics 36:21\u201334","journal-title":"Neuropediatrics"},{"key":"2797_CR22","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s10048-013-0354-0","volume":"14","author":"M Ruggieri","year":"2013","unstructured":"Ruggieri M, Gabriele AL, Polizzi A et al (2013) Natural history of neurofibromatosis type 2 with onset before the age of 1 year. Neurogenetics 14:89\u201398","journal-title":"Neurogenetics"},{"key":"2797_CR23","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1001\/archotol.1996.01890230086016","volume":"122","author":"MS Ahn","year":"1996","unstructured":"Ahn MS, Jackler RK, Lustig LR (1996) The early history of the neurofibromatoses. Evolution of the concept of neurofibromatosis type 2. Arch Otolaryngol Head Neck 122:1240\u20131249","journal-title":"Arch Otolaryngol Head Neck"},{"key":"2797_CR24","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.wneu.2014.05.038","volume":"82","author":"A Sonig","year":"2014","unstructured":"Sonig A, Gandhl V, Nanda A (2014) From the cell of Schwann to Schwannoma: a century\u2019s fruition. World Neurosurg 82:906\u2013911","journal-title":"World Neurosurg"},{"key":"2797_CR25","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1016\/S0140-6736(08)60872-7","volume":"371","author":"A Schieppati","year":"2008","unstructured":"Schieppati A, Enter JI, Daina E, Apeina A (2008) Why rare diseases are an important medical and social issue. Lancet 371:2039\u20132041","journal-title":"Lancet"},{"key":"2797_CR26","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<241::AID-AJMG24>3.0.CO;2-S","volume":"66","author":"R Happle","year":"1996","unstructured":"Happle R (1996) Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet 66:241\u2013242","journal-title":"Am J Med Genet"},{"key":"2797_CR27","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1001\/archderm.1997.03890480025004","volume":"133","author":"R Happle","year":"1997","unstructured":"Happle R (1997) A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. Arch Dermatol 133:1505\u20131509","journal-title":"Arch Dermatol"},{"key":"2797_CR28","doi-asserted-by":"crossref","unstructured":"Happle R (2014) Two major categories of mosaicism. In: Happle R (ed) Mosaicism in human skin. Understanding nevi, nevoid skin disorders, and cutaneous neoplasia. Springer, Berlin, pp 13\u201337","DOI":"10.1007\/978-3-642-38765-4_3"},{"key":"2797_CR29","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.spen.2015.11.001","volume":"22","author":"M Ruggieri","year":"2015","unstructured":"Ruggieri M, Pratic\u00f2 AD (2015) Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 22:207\u2013233","journal-title":"Semin Pediatr Neurol"},{"key":"2797_CR30","first-page":"530","volume":"95","author":"M Ruggieri","year":"2000","unstructured":"Ruggieri M, Polizzi A (2000) Segmental neurofibromatosis. J Neurosurg 95:530\u2013532","journal-title":"J Neurosurg"},{"key":"2797_CR31","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/ajmg.1332","volume":"101","author":"M Ruggieri","year":"2001","unstructured":"Ruggieri M (2001) Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2)\u2014no longer neurofibromatosis type 5 (2001). Am J Med Genet 101:178\u2013180","journal-title":"Am J Med Genet"},{"key":"2797_CR32","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1212\/WNL.56.11.1433","volume":"56","author":"M Ruggieri","year":"2001","unstructured":"Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56:1433\u20131443","journal-title":"Neurology"},{"key":"2797_CR33","doi-asserted-by":"crossref","first-page":"345","DOI":"10.14639\/0392-100X-1093","volume":"36","author":"M Ruggieri","year":"2016","unstructured":"Ruggieri M, Pratic\u00f2 AD, Serra A et al (2016) Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. Acta Otorhinolaryngol Ital 36:345\u2013367","journal-title":"Acta Otorhinolaryngol Ital"},{"key":"2797_CR34","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1136\/jmg.40.3.227","volume":"40","author":"M Ruggieri","year":"2003","unstructured":"Ruggieri M, Polizzi A (2003) From aldrovandi\u2019s homuncio (1592) to buffon\u2019s girl (1749) and the wart man of tilesisus (1793): antique illustrations of mosaicism in neurofibromatosis? J Med Genet 40:227\u2013232","journal-title":"J Med Genet"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-016-2797-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10072-016-2797-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-016-2797-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T08:04:14Z","timestamp":1658390654000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10072-016-2797-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,11]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["2797"],"URL":"https:\/\/doi.org\/10.1007\/s10072-016-2797-1","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,11]]}}}