Skip to main content
SpringerLink
Log in

Neurocutaneous Disorders

  • Reference work entry
  • First Online:
Textbook of Pediatric Neurosurgery

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 949.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 1,299.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Adamson HG (1908) Congenital pigmentation with atrophic scarring associated with other congenital abnormalities. Proc R Soc Med 1:9–10

    CAS  PubMed  PubMed Central  Google Scholar 

  • 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 122:1240–1249

    CAS  Google Scholar 

  • Arzimanoglou A, O’ Hare A, Johnston M, Ouvrier A (2018) Aicardi’s diseases of the nervous system in childhood. Wiley, New York

    Google Scholar 

  • Ashrafian H (2011) Limb gigantism, neurofibromatosis and royal heredity in the Ancient World 2500 years ago: Achaemenids and Parthians. J Plast Reconstr Aesthet Surg 64:557

    PubMed  Google Scholar 

  • Ashwal S (1990) The founders of child neurology. Norman Publishing, San Francisco

    Google Scholar 

  • Beighton P, Beighton G (1986) The man behind the syndrome. Springer, Berlin

    Google Scholar 

  • Beighton P, Beighton G (1997) The persons behind the syndrome. Springer, London

    Google Scholar 

  • Bidwell AE (2018) Wyburn-Mason syndrome. E-Medicine. http://www.emedicine.com/oph/topic357.htm

  • Biggs GN (1909) A case of multiple intracranial tumours with involvement of both auditory nerves. Lancet 2:14–15

    Google Scholar 

  • Bloch B (1926) Eigentumliche, bisher nicht beschriebene Pigmentafektion (incontinentia pigmenti). Schweiz Med Wochen 7:404–405

    Google Scholar 

  • Bodensteiner JB, Roach ES (1999) Sturge-Weber syndrome. The Sturge Weber Foundation, Mt. Freedom

    Google Scholar 

  • Boder E (1987) Ataxia-telangiectasia. In: Gomez MR (ed) Neurocutaneous diseases. a practical approach. Butterworths, Boston, pp 95–117

    Google Scholar 

  • 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) 18:165–178

    Google Scholar 

  • Bourneville DM (1880) Sclérose tubéreuse des circonvolutions cérébrales: Idiotie et épilepsie hémiplégique. Arch Neurol (Paris) 1:81–91

    Google Scholar 

  • Bourneville DM (1880–1881) Contribution à l’étude de l’idiotie. Arch Neurol (Paris) 1:69–90

    Google Scholar 

  • Bourneville D, Brissaud È (1881) Encéphalite ou sclérose tubéreuse des circonvolutions cérébrales. Arch Neurol (Paris) 1:390–412

    Google Scholar 

  • Bourneville DM (1899) Idiotie symptomatique de la sclérose tubéreuse ou hypertrophique. Le Progrès Médical (Paris) (série III) 10:241–248

    Google Scholar 

  • Brandt R (1921) Zur Frage der Angiomatosis retinae. A von Graefe’s Arch Ophthalmol 106:127–165

    Google Scholar 

  • 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 

  • Brosius S (2010) A history of von Recklinghausen’s NF1. J Hist Neurosci 19:333–348

    PubMed  Google Scholar 

  • Brown D, Hilal SK, Tenner SS (1973) Wyburn-Mason syndrome. Report of two cases without retinal involvement. Arch Neurol 28:67–68

    CAS  PubMed  Google Scholar 

  • Caprotti E (1980) Mostri, Draghi e Serpenti nelle Silografie di Ulisse Aldrovandi e dei suoi Contemporanei. Mazzotta editore, Milano

    Google Scholar 

  • Cohen MM Jr (1986) The Elephant Man did not have neurofibromatosis. Proc Greenwood Genet Ctr 6:187–192

    Google Scholar 

  • Cohen MM Jr (1988a) Invited historical comment: further diagnostic thought about the Elephant Man. Am J Med Genet 29:777–782

    PubMed  Google Scholar 

  • Cohen MM Jr (1988b) Understanding Proteus syndrome, unmasking the Elephant Man, and stemming elephant fever. Neurofibromatosis 1:260–280

    PubMed  Google Scholar 

  • 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 111–124

    Google Scholar 

  • Colenbrander MC (1954) In memoriam: Professor J. van der Hoeve: the man and his work. Doc Ophthalmol 7/8:7–25

    Google Scholar 

  • 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 14:141–149

    Google Scholar 

  • Cox J (1985) Quest for Quasimodo (V. Hugo). Br Med J (Clin Res Ed) 291:1801–1803

    CAS  Google Scholar 

  • 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 29:259–275

    CAS  PubMed  Google Scholar 

  • Curatolo P (2003) Tuberous sclerosis complex. From basic science to clinical phenotype. Mac Keith Press, London

    Google Scholar 

  • Enersen OD (2017) Jan van der Hoeve. Available at https://www.whonamedit.com

  • Friedrich V, Peda G (1998) Waldassen Foundation library (Waldsassen Stiftsbibliothek). Kunstverlag, Passau

    Google Scholar 

  • Fulton JF (1929) Robert W. Smith’s description of generalised neurofibromatosis. N Engl J Med 200:1315–1317

    Google Scholar 

  • Galezowski X (1897) Traité iconographique d’ophthalmoscopie. In: Balliere (ed) Diagnostique et traitement des affections oculaires par les docteurs. Baillieres, Paris

    Google Scholar 

  • 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 23:266–300

    Google Scholar 

  • Gardner WJ, Turner O (1940) Bilateral acoustic neurofibromas: further clinical and pathological data on hereditary deafness and Reckinglhausen’s disase. Arch Neuropsych 44:76–99

    Google Scholar 

  • Garrod AE (1906) Peculiar skin pigmentation of the skin in an infant. Trans Clin Soc Lond 39:216–217

    Google Scholar 

  • Geoffroy Saint-Hilaire E (1942) Histoire génerale et particulière des anomalies de l’organisation chex l’homme et les animaux. J.B. Baillière, Paris

    Google Scholar 

  • Gomez MR (1987) Neurocutaneous diseases. A practical approach. Butterworths, Boston

    Google Scholar 

  • Gourevitch D, Grmek MD (1994) Enigmatic statue. Nature 372:228

    CAS  PubMed  Google Scholar 

  • Happle R (1993) Pigmentary patterns associated with human mosaicism: a proposed classification. Eur J Dermatol 3:170–174

    Google Scholar 

  • Happle R (1996) Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet 66:241–2

    CAS  PubMed  Google Scholar 

  • 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 133:1505–1509

    CAS  PubMed  Google Scholar 

  • Happle R (2002) Dohi Memorial Lecture. New aspects of cutaneous mosaicism. J Dermatol 29:681–692

    PubMed  Google Scholar 

  • Happle R (2014) Mosaicism in human skin. Understanding nevi, nevoid skin disorders, and cutaneous neoplasia. Springer, Berlin/Heidelberg

    Google Scholar 

  • Hecht F (1989) Recognition of neurofibromatosis before von Recklinghausen. Neurofibromatosis 2:180–184

    CAS  PubMed  Google Scholar 

  • House WF (1989) Acoustic tumor surgery: an historical perspective. Semin Hear 10:293–305

    Google Scholar 

  • 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, London

    Google Scholar 

  • Hunter JAA, Holubar K (1984) Sulzberger. Biography, autobiography, iconography. A posthumous festschrift. Am J Dermatopathol 6:345–370

    Google Scholar 

  • 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 1–22

    Google Scholar 

  • Huson SM, Hughes RAC (1994) The neurofibromatoses: pathogenetic and clinical overview. Chapman & Hall, London

    Google Scholar 

  • Institute Born-Bunge (2018) University of Antwerp. https://www.bornbunge.be

  • Islam MP, Roach ES (2015) Neurocutaneous syndromes. Handbook of clinical neurology: 3rd series. No. 132. Elsevier, New York

    Google Scholar 

  • Ito M (1952) Studies of melanin XI. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis. Tohoku Exper Med 55(Suppl):57–59

    Google Scholar 

  • Jay V (1999) Historical contributions to pediatric pathology: tuberous sclerosis. Pediatr Dev Pathol 2:197–198

    CAS  PubMed  Google Scholar 

  • Jelinek JE, Bart RS, Shiff GM (1973) Hypomelanosis of Ito (Incontinentia pigmenti achromians). Arch Dermatol 107:596–601

    CAS  PubMed  Google Scholar 

  • Klippel M, Trenaunay P (1900) Du nevus variqueux ostèohypertrophique. Arch Gen Med (Paris) 185:641–672

    Google Scholar 

  • Lindau A (1926) Studien über Kleinhirncysten. Bau, Pathogenese und Beziehungen zur Angiomatosis retinae, (doctoral thesis); Acta Pathol Microbiol Scand 3(Suppl):1–128

    Google Scholar 

  • Lindau A (1926) Angiomatosis retinae. Acta Pathol Microbiol Scand 1(supplement):77

    Google Scholar 

  • Lindau A (1927) Zur Frage der Angiomatosis Retinae und Ihrer Hirncomplikation. Acta Ophthalmol 4:193–226

    Google Scholar 

  • Linden DE (1994) Statue enigma. Nature 369:714

    CAS  PubMed  Google Scholar 

  • Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, Oldfield EH (2003) von Hippel-Lindau disease. Lancet 361:2059–2067

    CAS  PubMed  Google Scholar 

  • Louis-Bar D (1941) Sur un syndrome progressif comprenant des télangiectasies capillaries cutnées et conjonctivales symetrique naevoide et de troubles cerebellaux. Confin Neurol (Basel) 4:432–442

    Google Scholar 

  • Lowenthal A (1998) Ludo van Bogaert. J Med Biogr 6:200–202

    CAS  PubMed  Google Scholar 

  • 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 385:750–2

    PubMed  Google Scholar 

  • Lyons JB, Staunton H (1992) Neurofibromatosis: why not Smith’s disease? J Hist Neurosci 1:65–73

    CAS  PubMed  Google Scholar 

  • MacKee GM (1955) Dr Marion B Sulzberger. J Invest Dermatol 24:141–154

    CAS  PubMed  Google Scholar 

  • Madigan P, Masello MJ (1989) Report on a neurofibromatosis-like case: Monstrorum Historia, 1642. Neurofibromatosis 2:53–56

    CAS  PubMed  Google Scholar 

  • Magnus H (1874) Aneurisma arteriosovenosum retinale. Virchows Arch Pathol 60:38–45

    Google Scholar 

  • Morse P (1999) Neurofibromatosis type 1. Arch Neurol 56:364–365

    CAS  PubMed  Google Scholar 

  • Mulvhill JJ (1988) Neurofibromatosis: history, nomenclature and natural history. Neurofibromatosis 1:124–131

    Google Scholar 

  • OMIMTM (2018) Online Mendelian inheritance in man. The Johns Hopkins Univeristy Press, Baltimore. http://www.ncbi.nlm.nih.gov/omim

  • Pascual-Castroviejo I (2004) Hypomelonosis of Ito. In: Roach ES, Miller VS (eds) Neurocutaneous disorders. Cambridge University Press, Cambridge, pp 123–130

    Google Scholar 

  • Patel PR, Lauerman WC (1995) Historical perspective: Maurice Klippel. Spine 20:2157–2160

    CAS  PubMed  Google Scholar 

  • Penfield W (1927) On the nature of neuromas. Surg Gynec Obstet 45:178

    Google Scholar 

  • Polizzi A, Balsamo A, Bal MO, Taruscio D (2014) Rare diseases research and practice. Endocr Dev 27:234–256

    PubMed  Google Scholar 

  • 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 16:265–275

    Google Scholar 

  • Ragge NK, Munier FL (1994) Ancient neurofibromatosis. Nature 368:815

    CAS  PubMed  Google Scholar 

  • Rayer PF (1835) Traité des maladies de la peau/atlas (in French). J.B. Baillière, Paris, p 20

    Google Scholar 

  • Riccardi VM, Koehler PJ (2000) Von Recklinghausen disease. In: Koehler PJ, Bruyn GW, Pearce JMP (eds) Neurological eponyms. Oxford University Press, Oxford, pp 357–365

    Google Scholar 

  • Richard S, Graff J, Lindau J, Resche F (2004) Von Hippel-Lindau disease. Lancet 363:1231–1234

    PubMed  Google Scholar 

  • Rizzo R, Pavone L, Pero G, Curatolo P (2004) A neurocutaneous disorder with a severe course: Wyburn-Mason’s syndrome. J Child Neurol 19:908–911

    PubMed  Google Scholar 

  • Rosman NP (1987) Incontinentia pigmenti. In: Gomez MR (ed) Neurocutaneous diseases. A practical approach. Butterworths, Boston, pp 293–300

    Google Scholar 

  • Ruggieri M, Pavone L (2000) Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol 15:635–644

    CAS  PubMed  Google Scholar 

  • 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 40:227–232

    CAS  PubMed  PubMed Central  Google Scholar 

  • Ruggieri M, Praticò AD (2015) Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 22:207–233

    PubMed  Google Scholar 

  • 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 36:21–34

    CAS  PubMed  Google Scholar 

  • Ruggieri M, Pascual-Castroviejo I, Di Rocco C (2008) Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes. Springer, New York/Wien

    Google Scholar 

  • 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 14:89–98

    CAS  PubMed  Google Scholar 

  • 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 87:401–410

    CAS  PubMed  Google Scholar 

  • 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 33:549–560

    PubMed  Google Scholar 

  • Ruggieri M, Praticò AD, Caltabiano R, Polizzi A (2017b) Rediagnosing one of Smith’s patients (John McCann) with “neuromas tumours” (1849). Neurol Sci 38:493–499

    PubMed  Google Scholar 

  • 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.38486

  • Ruggieri M, Micali G, Praticò AD (2018b) Rare neurocutaneous disorders: state of the art and update. Foreword. J Pediatr Neurol 16:253–254

    Google Scholar 

  • Ruggieri M, Praticò AD, Lacarrubba F, Micali G, Schepis C, Polizzi A (2018c) Archetypical patterns of cutaneous mosaicism. J Pediatr Neurol 16:255–264

    Google Scholar 

  • Sanchez GM, Siuda T (2002) Ebers Papyrus case #873: a probable case of neurofibromatosis 1. S D J Med 55:529–535

    PubMed  Google Scholar 

  • Sandifort E (1777) Observationes anatomico-patologicae. vd Eyeck P, Vygh D, Lugduni-Batavorum, Leiden, pp 116–120

    Google Scholar 

  • 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 1–16

    Google Scholar 

  • Schirmer R (1860) Ein Fall von Telangiektasie. Albrecht von Graefes Arch Ophthalmol 7:119–121

    Google Scholar 

  • Selwood D (1971) An introduction to the coinage of Parthia. Spink, London

    Google Scholar 

  • Seshadri KG (2012) Hunches on hunchbacks. Indian J Endocrinol Metab 16:292–294

    PubMed  PubMed Central  Google Scholar 

  • Shah HM, Chung KC (2008) Robert William Smith: his life and his contributions to medicine. J Hand Surg 33A:948–951

    Google Scholar 

  • Simili R (2001) Il Teatro della Natura di Ulisse Aldrovandi. Editrice Compositori, Bologna

    Google Scholar 

  • Smith RW (1849) A treatise on the pathology, diagnosis and treatment of neurofibroma. Hodges & Smith, Dublin

    Google Scholar 

  • Stickler GB (1987) Klippel-Trenaunay syndrome. In: Gomez MR (ed) Neurocutaneous diseases. Butterworths, Boston, pp 368–375

    Google Scholar 

  • Sulzberger MB (1928) Über eine bisher nicht beschriebene congenitale Pigmentonomalie (incontinenetia pigmenti). Arch Derm Syph (Berlín) 154:19–32

    Google Scholar 

  • Sybert VP (1994) Hypomelanosis of Ito: A description, not a diagnosis. J Invest Dermatol 103:141S–143S

    CAS  PubMed  Google Scholar 

  • 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 116:581–586

    CAS  PubMed  Google Scholar 

  • Syllaba L, Henner K (1926) Contribution à l’indépendance de l’athètose double idiopathique et congénitale. Rev Neurol (Paris) 1:541–562

    Google Scholar 

  • Tibbles JAR, Cohen MM (1986) The Proteus syndrome: the Elephant Man diagnosed. Br Med J 293:683–685

    CAS  Google Scholar 

  • Tilesius von Tilenau WG (1793) Historia pathologica singularis Cutis Turpitudinis: Jo Gondofredi Rheinardi viri Lannorum. SL Crusius, Leipzig

    Google Scholar 

  • Todman D (2008) Warts and the kings of Parthia: an ancient representation of hereditary neurofibromatosis depicted in coins. J Hist Neurosci 17:141–146

    PubMed  Google Scholar 

  • 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 16:297–304

    Google Scholar 

  • Trelat U, Monod A (1869) De l’hypertrophie unilatérale partielle or totale du corps. Arch Gen Med 13:536–558

    Google Scholar 

  • Treves F (1885a) A case of congenital deformity. Trans Pathol Soc Lond 36:494–498

    Google Scholar 

  • Treves F (1885b) Congenital deformity, in reports of societies pathological of London. Br Med J 1:595–596

    Google Scholar 

  • Treves F (1923) The Elephant Man and other reminiscences. Cassell, London

    Google Scholar 

  • Unsigned comment (1890) Death of the Elephant Man. Br Med J 1:916–917

    Google Scholar 

  • Van Bogaert L (1935) Les dysplasies neuroectodermiques congenitales. Rev Neurol (Paris) 63:354–398

    Google Scholar 

  • Van der Hoeve J (1920) Eye symptoms in tuberous sclerosis of the brain. Trans Ophthalmol Soc 20:329–334

    Google Scholar 

  • Van der Hoeve J (1921) Augengeschwulst bei der tuberosen Hirnsklerose (Bourneville). Albrecht Graefes Arch Klin Ophthalmol 105:880–898

    Google Scholar 

  • Van der Hoeve J (1923) Eye disease in tuberous sclerosis of the brain and in Recklinghausen’s disease. Trans Ophthalmol Soc UK 45:534–541

    Google Scholar 

  • Van der Hoeve J (1932) Eye symptoms in phakomatoses (The Doyle Memorial Lecture). Trans Ophthalmol Soc 52:380–401

    Google Scholar 

  • Van der Hoeve J (1933) Les phakomatoses de Bourneville, de Recklinghausen et de von Hippel-Lindau. J Belge Neurol Psychiatry 33:752–762

    Google Scholar 

  • Van der Hoeve J, de Kleyn A (1918) Blaue Skleren, Knochenbrüchigkeit und Schwerhörigkeit. Albrecht von Graefes Arch Ophthalmol 95:81

    Google Scholar 

  • Virchow R (1847) Uber die Reform der pathologischen und therapeutischen Anschaunngen durch die mikroskopischen Untersuchungen. Virchows Arch Pathol Anat Physial Klin Med 1:207–255

    Google Scholar 

  • Virchow R (1857) Uber einem Fall von vielfachen Neuronen (sogen. Faser-kerngeschwulsten) mit ausgezeichneter localer Recidivfahigkeit. Virchows Arch (A) 12:114–117

    Google Scholar 

  • Von Hippel E (1896) Vorstellung eines Patienten mit einer sehr ungenwohnlichen Netzhaut. XXIV Verstellung der ophthalmologischen Gesellschaft (Heidelberg, 1895). JF Bergman Verlag, Wiesbaden, p 269

    Google Scholar 

  • Von Hippel E (1904) Ueber eine sehr seltene Erkrankung der Netzhaut. Klinische Beobachtungen. Albrecht von Graefes Arch Ophthalmol 59:83–106

    Google Scholar 

  • Von Hippel E (1911) Die anatomische Grundlage der von mir beschriebenen “sehr seltene Erkrankung der Netzhaut”. Albrecht von Graefes Arch Ophthalmol 79:350–377

    Google Scholar 

  • Von Recklinghausen FD (1882) Uber ide multiplen Fibrome der Haut und ihre beziehung zu den multiplen Neuromen. Hirschwald, Berlin, pp 3–18

    Google Scholar 

  • 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 22:431

    PubMed  Google Scholar 

  • Who named it? (2018) An online catalog of eponyms in medical literature. http://www.whonamedit.com

  • Wilkins R, Brody IA (1971) Von Recklinghausen’s neurofibromatosis. Arch Neurol 24:374–375

    CAS  PubMed  Google Scholar 

  • Wishart J (1822) Cases of tumours in the skull, dura mater and brain. Edinb Med Surg J 18:393–397

    CAS  PubMed  Google Scholar 

  • Wyburn-Mason R (1943) Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain 66:165–209

    Google Scholar 

  • Yakovlev PI, Guthrie RH (1931) Congenital ectodermoses (neurocutaneous syndromes) in epileptic patients. Bourneville tuberous sclerosis (epiloia). Arch Neurol Psychiatry 26:1145–1194

    Google Scholar 

  • Young DF, Eldridge R, Gardner WJ (1970) Bilateral acoustic neuroma in a large kindred. JAMA 214:347–353

    CAS  PubMed  Google Scholar 

  • Younge BR (1987) Wyburn-Mason syndrome. In: Gomez (ed) Neurocutaneous disorders: a practical approach. Butterworths, Boston, pp 376–380

    Google Scholar 

  • Zanca A, Zanca A (1977) Iconografia dermatologica del passatro. Antiche illustrazioni di neurofibromatosi multipla. Chron Dermatol 2:283–287

    Google Scholar 

  • Zanca A, Zanca A (1980) Antique illustrations of neurofibromatosis. Int J Dermatol 9:55–58

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. 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

    Martino Ruggieri & Andrea D. Praticò

  2. National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

    Agata Polizzi

  3. Institute of Neurological Sciences, National Research Council, Catania, Italy

    Agata Polizzi

Authors
  1. Martino Ruggieri
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Andrea D. Praticò
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Agata Polizzi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Martino Ruggieri .

Editor information

Editors and Affiliations

  1. Pediatric Neurosurgery, International Neuroscience Institute, Hannover, Germany

    Concezio Di Rocco

  2. Department of Paediatric Neurosurgery, Great Ormond Street Hospital for Children, NHS Trust, London, UK

    Dachling Pang

  3. Division of Neurosurgery, The Hospital for Sick Children, Toronto, ON, Canada

    James T. Rutka

Section Editor information

  1. International Neuroscience Institute, Hannover, Germany

    Concezio Di Rocco

  2. Pediatric Neurosurgery, Fondazione Policlinico Universitario A. Gemelli, Catholic University Medical School, Rome, Italy

    Gianpiero Tamburrini

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Ruggieri, M., Praticò, A.D., Polizzi, A. (2020). Neurocutaneous Disorders. In: Di Rocco, C., Pang, D., Rutka, J. (eds) Textbook of Pediatric Neurosurgery. Springer, Cham. https://doi.org/10.1007/978-3-319-72168-2_42

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-72168-2_42

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-72167-5

  • Online ISBN: 978-3-319-72168-2

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation