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Neurocutaneous Disorders

  • Martino RuggieriEmail author
  • Andrea D. Praticò
  • Agata Polizzi
Living reference work entry

Abstract

Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumors] and the central and peripheral nervous system [with congenital abnormalities and/or tumors]. This striking association has long attracted the attention of physicians. Many such associations have been recognized; many are relatively rare conditions but, collectively, they account for a significant proportion of the neurological disorders especially in children. Their clinical manifestations are polymorphous, they may involve many other organs or systems in addition to skin and nervous system (e.g., eyes, heart, lungs, kidneys, blood vessels, and bones), and they may be difficult to diagnose.

In the past few decades and more recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (e.g., RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are responsible of the phenotypic appearance and distribution of cutaneous and extra-cutaneous features. In view of these recent acquisitions, this group of conditions has expanded tremendously, especially as a result of the recent additional development in neuroimaging and genomic taxonomy and it is now difficult to find an overall synthetic view of the complexities of this spectrum of disorders.

This chapter will focus on the early history of neurocutaneous disorders and on the pioneers whose eponyms stand behind each of these syndromes; on the classification of the well known, and less defined phenotypes and their related molecular/genetic bases, including the mosaic phenotypes.

References

  1. Adamson HG (1908) Congenital pigmentation with atrophic scarring associated with other congenital abnormalities. Proc R Soc Med 1:9–10PubMedPubMedCentralGoogle Scholar
  2. 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 122:1240–1249CrossRefGoogle Scholar
  3. Arzimanoglou A, O’ Hare A, Johnston M, Ouvrier A (2018) Aicardi’s diseases of the nervous system in childhood. Wiley, New YorkGoogle Scholar
  4. Ashrafian H (2011) Limb gigantism, neurofibromatosis and royal heredity in the Ancient World 2500 years ago: Achaemenids and Parthians. J Plast Reconstr Aesthet Surg 64:557PubMedCrossRefPubMedCentralGoogle Scholar
  5. Ashwal S (1990) The founders of child neurology. Norman Publishing, San FranciscoGoogle Scholar
  6. Beighton P, Beighton G (1986) The man behind the syndrome. Springer, BerlinCrossRefGoogle Scholar
  7. Beighton P, Beighton G (1997) The persons behind the syndrome. Springer, LondonCrossRefGoogle Scholar
  8. Bidwell AE (2018) Wyburn-Mason syndrome. E-Medicine. http://www.emedicine.com/oph/topic357.htm
  9. Biggs GN (1909) A case of multiple intracranial tumours with involvement of both auditory nerves. Lancet 2:14–15CrossRefGoogle Scholar
  10. Bloch B (1926) Eigentumliche, bisher nicht beschriebene Pigmentafektion (incontinentia pigmenti). Schweiz Med Wochen 7:404–405Google Scholar
  11. Bodensteiner JB, Roach ES (1999) Sturge-Weber syndrome. The Sturge Weber Foundation, Mt. FreedomGoogle Scholar
  12. Boder E (1987) Ataxia-telangiectasia. In: Gomez MR (ed) Neurocutaneous diseases. a practical approach. Butterworths, Boston, pp 95–117CrossRefGoogle Scholar
  13. Bonnet BP, Dechauma J, Blanc E (1937) L’aneurisme cirsoide de la retine (Aneurysme racemeux). Ses relations avec l’aneurisme cirsoide de la face et avec l’aneurysmè cirsoide du cerveaux. J Med (Lyon) 18:165–178Google Scholar
  14. Bourneville DM (1880) Sclérose tubéreuse des circonvolutions cérébrales: Idiotie et épilepsie hémiplégique. Arch Neurol (Paris) 1:81–91Google Scholar
  15. Bourneville DM (1880–1881) Contribution à l’étude de l’idiotie. Arch Neurol (Paris) 1:69–90Google Scholar
  16. Bourneville D, Brissaud È (1881) Encéphalite ou sclérose tubéreuse des circonvolutions cérébrales. Arch Neurol (Paris) 1:390–412Google Scholar
  17. Bourneville DM (1899) Idiotie symptomatique de la sclérose tubéreuse ou hypertrophique. Le Progrès Médical (Paris) (série III) 10:241–248Google Scholar
  18. Brandt R (1921) Zur Frage der Angiomatosis retinae. A von Graefe’s Arch Ophthalmol 106:127–165CrossRefGoogle Scholar
  19. Brigo F, Lattanzi S, Trinka E, Nardone R, Bragazzi NL, Ruggieri M, Martini M, Walusinski O (2018) First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840–1909). Neuropathology [Epub ahead of print]Google Scholar
  20. Brosius S (2010) A history of von Recklinghausen’s NF1. J Hist Neurosci 19:333–348PubMedCrossRefPubMedCentralGoogle Scholar
  21. Brown D, Hilal SK, Tenner SS (1973) Wyburn-Mason syndrome. Report of two cases without retinal involvement. Arch Neurol 28:67–68PubMedCrossRefPubMedCentralGoogle Scholar
  22. Caprotti E (1980) Mostri, Draghi e Serpenti nelle Silografie di Ulisse Aldrovandi e dei suoi Contemporanei. Mazzotta editore, MilanoGoogle Scholar
  23. Cohen MM Jr (1986) The Elephant Man did not have neurofibromatosis. Proc Greenwood Genet Ctr 6:187–192Google Scholar
  24. Cohen MM Jr (1988a) Invited historical comment: further diagnostic thought about the Elephant Man. Am J Med Genet 29:777–782PubMedCrossRefPubMedCentralGoogle Scholar
  25. Cohen MM Jr (1988b) Understanding Proteus syndrome, unmasking the Elephant Man, and stemming elephant fever. Neurofibromatosis 1:260–280PubMedPubMedCentralGoogle Scholar
  26. Cohen MM Jr, Neri G, Weksberg R (2002) Klippel-Trenaunay syndrome, Parkes Weber syndrome, and Sturge-Weber syndrome. In: Cohen MM Jr, Neri G, Weksberg R (eds) Overgrowth syndromes. Oxford University Press, New York, pp 111–124Google Scholar
  27. Colenbrander MC (1954) In memoriam: Professor J. van der Hoeve: the man and his work. Doc Ophthalmol 7/8:7–25CrossRefGoogle Scholar
  28. Collins ET (1894) Intra-ocular growths (two cases, brother and sister, with peculiar vascular new growth, probably retinal, affecting both eyes). Trans Ophthalmol Soc UK 14:141–149Google Scholar
  29. Cox J (1985) Quest for Quasimodo (V. Hugo). Br Med J (Clin Res Ed) 291:1801–1803CrossRefGoogle Scholar
  30. Crump T (1981) Translation of case reports in Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen by F. v. Recklinghausen. Adv Neurol 29:259–275PubMedPubMedCentralGoogle Scholar
  31. Curatolo P (2003) Tuberous sclerosis complex. From basic science to clinical phenotype. Mac Keith Press, LondonGoogle Scholar
  32. Enersen OD (2017) Jan van der Hoeve. Available at https://www.whonamedit.com
  33. Friedrich V, Peda G (1998) Waldassen Foundation library (Waldsassen Stiftsbibliothek). Kunstverlag, PassauGoogle Scholar
  34. Fulton JF (1929) Robert W. Smith’s description of generalised neurofibromatosis. N Engl J Med 200:1315–1317CrossRefGoogle Scholar
  35. Galezowski X (1897) Traité iconographique d’ophthalmoscopie. In: Balliere (ed) Diagnostique et traitement des affections oculaires par les docteurs. Baillieres, ParisGoogle Scholar
  36. Gardiner WT, Frazier CH (1930) Bilateral acoustic neurofibromas: a clinical study and field survey of a family of five generations with bilateral deafness in 38 members. Arch Neurol Psych 23:266–300CrossRefGoogle Scholar
  37. Gardner WJ, Turner O (1940) Bilateral acoustic neurofibromas: further clinical and pathological data on hereditary deafness and Reckinglhausen’s disase. Arch Neuropsych 44:76–99CrossRefGoogle Scholar
  38. Garrod AE (1906) Peculiar skin pigmentation of the skin in an infant. Trans Clin Soc Lond 39:216–217Google Scholar
  39. Geoffroy Saint-Hilaire E (1942) Histoire génerale et particulière des anomalies de l’organisation chex l’homme et les animaux. J.B. Baillière, ParisGoogle Scholar
  40. Gomez MR (1987) Neurocutaneous diseases. A practical approach. Butterworths, BostonGoogle Scholar
  41. Gourevitch D, Grmek MD (1994) Enigmatic statue. Nature 372:228PubMedCrossRefPubMedCentralGoogle Scholar
  42. Happle R (1993) Pigmentary patterns associated with human mosaicism: a proposed classification. Eur J Dermatol 3:170–174Google Scholar
  43. Happle R (1996) Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet 66:241–2PubMedCrossRefPubMedCentralGoogle Scholar
  44. 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 133:1505–1509PubMedCrossRefPubMedCentralGoogle Scholar
  45. Happle R (2002) Dohi Memorial Lecture. New aspects of cutaneous mosaicism. J Dermatol 29:681–692PubMedPubMedCentralGoogle Scholar
  46. Happle R (2014) Mosaicism in human skin. Understanding nevi, nevoid skin disorders, and cutaneous neoplasia. Springer, Berlin/HeidelbergGoogle Scholar
  47. Hecht F (1989) Recognition of neurofibromatosis before von Recklinghausen. Neurofibromatosis 2:180–184PubMedPubMedCentralGoogle Scholar
  48. House WF (1989) Acoustic tumor surgery: an historical perspective. Semin Hear 10:293–305Google Scholar
  49. Howell M, Ford P (1983) The true history of the Elephant Man. A new edition of the story of Joseph Carey Merrick whose tragic life and extraordinary fate are told in this book. Penguin Books, LondonGoogle Scholar
  50. Hunter JAA, Holubar K (1984) Sulzberger. Biography, autobiography, iconography. A posthumous festschrift. Am J Dermatopathol 6:345–370CrossRefGoogle Scholar
  51. Huson SM (1994) Neurofibromatosis: historical perspective, classification and diagnostic criteria. In: Huson SM, Hughes RAC (eds) The neurofibromatoses: pathogenetic and clinical overview. Chapman & Hall, London, pp 1–22Google Scholar
  52. Huson SM, Hughes RAC (1994) The neurofibromatoses: pathogenetic and clinical overview. Chapman & Hall, LondonGoogle Scholar
  53. Institute Born-Bunge (2018) University of Antwerp. https://www.bornbunge.be
  54. Islam MP, Roach ES (2015) Neurocutaneous syndromes. Handbook of clinical neurology: 3rd series. No. 132. Elsevier, New YorkGoogle Scholar
  55. Ito M (1952) Studies of melanin XI. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis. Tohoku Exper Med 55(Suppl):57–59Google Scholar
  56. Jay V (1999) Historical contributions to pediatric pathology: tuberous sclerosis. Pediatr Dev Pathol 2:197–198PubMedCrossRefPubMedCentralGoogle Scholar
  57. Jelinek JE, Bart RS, Shiff GM (1973) Hypomelanosis of Ito (Incontinentia pigmenti achromians). Arch Dermatol 107:596–601PubMedCrossRefPubMedCentralGoogle Scholar
  58. Klippel M, Trenaunay P (1900) Du nevus variqueux ostèohypertrophique. Arch Gen Med (Paris) 185:641–672Google Scholar
  59. Lindau A (1926) Studien über Kleinhirncysten. Bau, Pathogenese und Beziehungen zur Angiomatosis retinae, (doctoral thesis); Acta Pathol Microbiol Scand 3(Suppl):1–128Google Scholar
  60. Lindau A (1926) Angiomatosis retinae. Acta Pathol Microbiol Scand 1(supplement):77Google Scholar
  61. Lindau A (1927) Zur Frage der Angiomatosis Retinae und Ihrer Hirncomplikation. Acta Ophthalmol 4:193–226CrossRefGoogle Scholar
  62. Linden DE (1994) Statue enigma. Nature 369:714PubMedCrossRefPubMedCentralGoogle Scholar
  63. Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, Oldfield EH (2003) von Hippel-Lindau disease. Lancet 361:2059–2067PubMedCrossRefPubMedCentralGoogle Scholar
  64. Louis-Bar D (1941) Sur un syndrome progressif comprenant des télangiectasies capillaries cutnées et conjonctivales symetrique naevoide et de troubles cerebellaux. Confin Neurol (Basel) 4:432–442Google Scholar
  65. Lowenthal A (1998) Ludo van Bogaert. J Med Biogr 6:200–202PubMedCrossRefPubMedCentralGoogle Scholar
  66. Luzzatto L, Hollak CE, Cox TM, Schieppati A, Licht C, Kääriäinen H, Merlini G, Schaefer F, Simoens S, Pani L, Garattini S, Remuzzi G (2015) Rare diseases and effective treatments: are we delivering? Lancet 385:750–2PubMedCrossRefPubMedCentralGoogle Scholar
  67. Lyons JB, Staunton H (1992) Neurofibromatosis: why not Smith’s disease? J Hist Neurosci 1:65–73PubMedCrossRefPubMedCentralGoogle Scholar
  68. MacKee GM (1955) Dr Marion B Sulzberger. J Invest Dermatol 24:141–154PubMedCrossRefPubMedCentralGoogle Scholar
  69. Madigan P, Masello MJ (1989) Report on a neurofibromatosis-like case: Monstrorum Historia, 1642. Neurofibromatosis 2:53–56PubMedPubMedCentralGoogle Scholar
  70. Magnus H (1874) Aneurisma arteriosovenosum retinale. Virchows Arch Pathol 60:38–45CrossRefGoogle Scholar
  71. Morse P (1999) Neurofibromatosis type 1. Arch Neurol 56:364–365PubMedCrossRefPubMedCentralGoogle Scholar
  72. Mulvhill JJ (1988) Neurofibromatosis: history, nomenclature and natural history. Neurofibromatosis 1:124–131Google Scholar
  73. OMIMTM (2018) Online Mendelian inheritance in man. The Johns Hopkins Univeristy Press, Baltimore. http://www.ncbi.nlm.nih.gov/omim
  74. Pascual-Castroviejo I (2004) Hypomelonosis of Ito. In: Roach ES, Miller VS (eds) Neurocutaneous disorders. Cambridge University Press, Cambridge, pp 123–130CrossRefGoogle Scholar
  75. Patel PR, Lauerman WC (1995) Historical perspective: Maurice Klippel. Spine 20:2157–2160PubMedCrossRefPubMedCentralGoogle Scholar
  76. Penfield W (1927) On the nature of neuromas. Surg Gynec Obstet 45:178Google Scholar
  77. Polizzi A, Balsamo A, Bal MO, Taruscio D (2014) Rare diseases research and practice. Endocr Dev 27:234–256PubMedCrossRefPubMedCentralGoogle Scholar
  78. Praticò AD, Sullo F, Polizzi A, Battaglini MC, Schepis C, Pirrone C, Lacarrubba F, Micali G, Dinotta F, Savasta S, Commodari E, Salafia S, Zanchì A, Pascual-Castroviejo I, Ruggieri M (2018) Hypomelanosis of Ito. J Pediatr Neurol 16:265–275CrossRefGoogle Scholar
  79. Ragge NK, Munier FL (1994) Ancient neurofibromatosis. Nature 368:815PubMedCrossRefPubMedCentralGoogle Scholar
  80. Rayer PF (1835) Traité des maladies de la peau/atlas (in French). J.B. Baillière, Paris, p 20Google Scholar
  81. Riccardi VM, Koehler PJ (2000) Von Recklinghausen disease. In: Koehler PJ, Bruyn GW, Pearce JMP (eds) Neurological eponyms. Oxford University Press, Oxford, pp 357–365Google Scholar
  82. Richard S, Graff J, Lindau J, Resche F (2004) Von Hippel-Lindau disease. Lancet 363:1231–1234PubMedCrossRefPubMedCentralGoogle Scholar
  83. Rizzo R, Pavone L, Pero G, Curatolo P (2004) A neurocutaneous disorder with a severe course: Wyburn-Mason’s syndrome. J Child Neurol 19:908–911PubMedPubMedCentralGoogle Scholar
  84. Rosman NP (1987) Incontinentia pigmenti. In: Gomez MR (ed) Neurocutaneous diseases. A practical approach. Butterworths, Boston, pp 293–300CrossRefGoogle Scholar
  85. Ruggieri M, Pavone L (2000) Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol 15:635–644PubMedCrossRefPubMedCentralGoogle Scholar
  86. Ruggieri M, Polizzi A (2003) From Aldrovandi’s Homuncio (1592) to Buffon’s girl (1749) and the Wart Man of Tilesisus (1793): antique illustrations of mosaicism in neurofibromatosis? J Med Genet 40:227–232PubMedPubMedCentralCrossRefGoogle Scholar
  87. Ruggieri M, Praticò AD (2015) Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 22:207–233PubMedCrossRefPubMedCentralGoogle Scholar
  88. Ruggieri M, Iannetti P, Polizzi A, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L (2005) Earliest clinical manifestations and natural history of neurofibromatosis type 2 in childhood: a study of 24 patients. Neuropediatrics 36:21–34PubMedCrossRefPubMedCentralGoogle Scholar
  89. Ruggieri M, Pascual-Castroviejo I, Di Rocco C (2008) Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes. Springer, New York/WienCrossRefGoogle Scholar
  90. Ruggieri M, Gabriele AL, Polizzi A, Salpietro V, Nicita F, Pavone P, Platania N, Milone P, Distefano A, Privitera G, Belfiore G, Granata F, Caltabiano R, Albanese V, Pavone L, Quattrone A (2013) Natural history of neurofibromatosis type 2 with onset before the age of 1 year. Neurogenetics 14:89–98PubMedCrossRefPubMedCentralGoogle Scholar
  91. Ruggieri M, Spalice A, Salpietro V, Caltabiano R, D’Orazi V, Pavone P, Magro G, Pirrone C, Platania N, Polizzi A, Nicita F (2015) The natural history of spinal neurofibromatosis: a review of clinical and genetic features. Clin Genet 87:401–410PubMedCrossRefPubMedCentralGoogle Scholar
  92. Ruggieri M, Praticò AD, Serra A, Maiolino L, Cocuzza S, Caltabiano R, Polizzi A (2017a) Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms. Childs Nerv Syst 33:549–560PubMedCrossRefPubMedCentralGoogle Scholar
  93. Ruggieri M, Praticò AD, Caltabiano R, Polizzi A (2017b) Rediagnosing one of Smith’s patients (John McCann) with “neuromas tumours” (1849). Neurol Sci 38:493–499PubMedCrossRefPubMedCentralGoogle Scholar
  94. Ruggieri M, Praticò AD, Caltabiano R, Polizzi A (2018a) Early history of the different forms of neurofibromatosis from the ancient Egypt to the British Empire and beyond: first descriptions, medical curiosities, misconceptions, landmarks and the persons behind the syndromes. Am J Med Genet A 1–36.  https://doi.org/10.1002/ajmg.a.38486PubMedCrossRefPubMedCentralGoogle Scholar
  95. Ruggieri M, Micali G, Praticò AD (2018b) Rare neurocutaneous disorders: state of the art and update. Foreword. J Pediatr Neurol 16:253–254CrossRefGoogle Scholar
  96. Ruggieri M, Praticò AD, Lacarrubba F, Micali G, Schepis C, Polizzi A (2018c) Archetypical patterns of cutaneous mosaicism. J Pediatr Neurol 16:255–264CrossRefGoogle Scholar
  97. Sanchez GM, Siuda T (2002) Ebers Papyrus case #873: a probable case of neurofibromatosis 1. S D J Med 55:529–535PubMedPubMedCentralGoogle Scholar
  98. Sandifort E (1777) Observationes anatomico-patologicae. vd Eyeck P, Vygh D, Lugduni-Batavorum, Leiden, pp 116–120Google Scholar
  99. Sarnat HB, Flores-Sarnat L (2006) Embryological basis of the neurocutaneous syndromes. In: Curatolo P, Riva D (eds) Neurocutaneous syndromes in children. John Libbey Eurotext, Montrouge, pp 1–16Google Scholar
  100. Schirmer R (1860) Ein Fall von Telangiektasie. Albrecht von Graefes Arch Ophthalmol 7:119–121Google Scholar
  101. Selwood D (1971) An introduction to the coinage of Parthia. Spink, LondonGoogle Scholar
  102. Seshadri KG (2012) Hunches on hunchbacks. Indian J Endocrinol Metab 16:292–294PubMedPubMedCentralCrossRefGoogle Scholar
  103. Shah HM, Chung KC (2008) Robert William Smith: his life and his contributions to medicine. J Hand Surg 33A:948–951CrossRefGoogle Scholar
  104. Simili R (2001) Il Teatro della Natura di Ulisse Aldrovandi. Editrice Compositori, BolognaGoogle Scholar
  105. Smith RW (1849) A treatise on the pathology, diagnosis and treatment of neurofibroma. Hodges & Smith, DublinGoogle Scholar
  106. Stickler GB (1987) Klippel-Trenaunay syndrome. In: Gomez MR (ed) Neurocutaneous diseases. Butterworths, Boston, pp 368–375CrossRefGoogle Scholar
  107. Sulzberger MB (1928) Über eine bisher nicht beschriebene congenitale Pigmentonomalie (incontinenetia pigmenti). Arch Derm Syph (Berlín) 154:19–32CrossRefGoogle Scholar
  108. Sybert VP (1994) Hypomelanosis of Ito: A description, not a diagnosis. J Invest Dermatol 103:141S–143SPubMedCrossRefPubMedCentralGoogle Scholar
  109. Sybert VP, Pagon RA, Donlan M, Bradley CM (1990) Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr 116:581–586PubMedCrossRefPubMedCentralGoogle Scholar
  110. Syllaba L, Henner K (1926) Contribution à l’indépendance de l’athètose double idiopathique et congénitale. Rev Neurol (Paris) 1:541–562Google Scholar
  111. Tibbles JAR, Cohen MM (1986) The Proteus syndrome: the Elephant Man diagnosed. Br Med J 293:683–685CrossRefGoogle Scholar
  112. Tilesius von Tilenau WG (1793) Historia pathologica singularis Cutis Turpitudinis: Jo Gondofredi Rheinardi viri Lannorum. SL Crusius, LeipzigGoogle Scholar
  113. Todman D (2008) Warts and the kings of Parthia: an ancient representation of hereditary neurofibromatosis depicted in coins. J Hist Neurosci 17:141–146PubMedCrossRefPubMedCentralGoogle Scholar
  114. Tomarchio S, Portale A, Praticò AD, Catanzaro S, Polizzi A, Belfiore G, Pirrone C, Schepis C, Commodari E, Praticò ER, Zanchì A, Ruggieri M, Konez O (2018) Wyburn-Mason syndrome. J Pediatr Neurol 16:297–304CrossRefGoogle Scholar
  115. Trelat U, Monod A (1869) De l’hypertrophie unilatérale partielle or totale du corps. Arch Gen Med 13:536–558Google Scholar
  116. Treves F (1885a) A case of congenital deformity. Trans Pathol Soc Lond 36:494–498Google Scholar
  117. Treves F (1885b) Congenital deformity, in reports of societies pathological of London. Br Med J 1:595–596CrossRefGoogle Scholar
  118. Treves F (1923) The Elephant Man and other reminiscences. Cassell, LondonGoogle Scholar
  119. Unsigned comment (1890) Death of the Elephant Man. Br Med J 1:916–917Google Scholar
  120. Van Bogaert L (1935) Les dysplasies neuroectodermiques congenitales. Rev Neurol (Paris) 63:354–398Google Scholar
  121. Van der Hoeve J (1920) Eye symptoms in tuberous sclerosis of the brain. Trans Ophthalmol Soc 20:329–334Google Scholar
  122. Van der Hoeve J (1921) Augengeschwulst bei der tuberosen Hirnsklerose (Bourneville). Albrecht Graefes Arch Klin Ophthalmol 105:880–898CrossRefGoogle Scholar
  123. Van der Hoeve J (1923) Eye disease in tuberous sclerosis of the brain and in Recklinghausen’s disease. Trans Ophthalmol Soc UK 45:534–541Google Scholar
  124. Van der Hoeve J (1932) Eye symptoms in phakomatoses (The Doyle Memorial Lecture). Trans Ophthalmol Soc 52:380–401Google Scholar
  125. Van der Hoeve J (1933) Les phakomatoses de Bourneville, de Recklinghausen et de von Hippel-Lindau. J Belge Neurol Psychiatry 33:752–762Google Scholar
  126. Van der Hoeve J, de Kleyn A (1918) Blaue Skleren, Knochenbrüchigkeit und Schwerhörigkeit. Albrecht von Graefes Arch Ophthalmol 95:81CrossRefGoogle Scholar
  127. Virchow R (1847) Uber die Reform der pathologischen und therapeutischen Anschaunngen durch die mikroskopischen Untersuchungen. Virchows Arch Pathol Anat Physial Klin Med 1:207–255CrossRefGoogle Scholar
  128. Virchow R (1857) Uber einem Fall von vielfachen Neuronen (sogen. Faser-kerngeschwulsten) mit ausgezeichneter localer Recidivfahigkeit. Virchows Arch (A) 12:114–117CrossRefGoogle Scholar
  129. Von Hippel E (1896) Vorstellung eines Patienten mit einer sehr ungenwohnlichen Netzhaut. XXIV Verstellung der ophthalmologischen Gesellschaft (Heidelberg, 1895). JF Bergman Verlag, Wiesbaden, p 269Google Scholar
  130. Von Hippel E (1904) Ueber eine sehr seltene Erkrankung der Netzhaut. Klinische Beobachtungen. Albrecht von Graefes Arch Ophthalmol 59:83–106CrossRefGoogle Scholar
  131. Von Hippel E (1911) Die anatomische Grundlage der von mir beschriebenen “sehr seltene Erkrankung der Netzhaut”. Albrecht von Graefes Arch Ophthalmol 79:350–377CrossRefGoogle Scholar
  132. Von Recklinghausen FD (1882) Uber ide multiplen Fibrome der Haut und ihre beziehung zu den multiplen Neuromen. Hirschwald, Berlin, pp 3–18Google Scholar
  133. Weber FP (1929) A note on the association of extensive haemangiomatous nevus of the skin with cerebral (meningeal) haemangioma, especially case of facila vascular naevus with contralateral hemiplegia. Proc Roy Soc Med 22:431PubMedPubMedCentralGoogle Scholar
  134. Who named it? (2018) An online catalog of eponyms in medical literature. http://www.whonamedit.com
  135. Wilkins R, Brody IA (1971) Von Recklinghausen’s neurofibromatosis. Arch Neurol 24:374–375PubMedCrossRefPubMedCentralGoogle Scholar
  136. Wishart J (1822) Cases of tumours in the skull, dura mater and brain. Edinb Med Surg J 18:393–397PubMedPubMedCentralGoogle Scholar
  137. Wyburn-Mason R (1943) Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain 66:165–209CrossRefGoogle Scholar
  138. Yakovlev PI, Guthrie RH (1931) Congenital ectodermoses (neurocutaneous syndromes) in epileptic patients. Bourneville tuberous sclerosis (epiloia). Arch Neurol Psychiatry 26:1145–1194CrossRefGoogle Scholar
  139. Young DF, Eldridge R, Gardner WJ (1970) Bilateral acoustic neuroma in a large kindred. JAMA 214:347–353PubMedCrossRefPubMedCentralGoogle Scholar
  140. Younge BR (1987) Wyburn-Mason syndrome. In: Gomez (ed) Neurocutaneous disorders: a practical approach. Butterworths, Boston, pp 376–380Google Scholar
  141. Zanca A, Zanca A (1977) Iconografia dermatologica del passatro. Antiche illustrazioni di neurofibromatosi multipla. Chron Dermatol 2:283–287Google Scholar
  142. Zanca A, Zanca A (1980) Antique illustrations of neurofibromatosis. Int J Dermatol 9:55–58CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  • Martino Ruggieri
    • 1
    Email author
  • Andrea D. Praticò
    • 1
  • Agata Polizzi
    • 2
    • 3
  1. 1.Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child NeuropsychiatryUniversity of CataniaCataniaItaly
  2. 2.National Centre for Rare Diseases, Istituto Superiore di SanitàRomeItaly
  3. 3.Institute of Neurological Sciences, National Research CouncilCataniaItaly

Section editors and affiliations

  • Concezio Di Rocco
    • 1
  • Gianpiero Tamburrini
    • 2
  1. 1.International Neuroscience InstituteHannoverGermany
  2. 2.Pediatric NeurosurgeryFondazione Policlinico Universitario A. Gemelli, Catholic University Medical SchoolRomeItaly

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