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Introduction to phacomatoses (neurocutaneous disorders) in childhood

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Abstract

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word “ϕαχοσ” = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. brain, heart and kidneys) (1932) and (b) to other disorders (i.e. von Hippel–Lindau disease and Sturge–Weber syndrome) (1933), and coined the term phakomatoses. At the same time, the American neurologist Paul Ivan Yakovlev and psychiatrist Riley H. Guthrie (1931) established the key role of nervous systems and skin manifestations in these conditions and proposed to name them neurocutaneous syndromes (or ectodermoses, to explain the pathogenesis). The Belgian pathologist, Ludo van Bogaert, came to similar conclusions (1935), but used the term neuro-ectodermal dysplasias. In the 1980s, the American paediatric neurologist Manuel R. Gomez introduced the concept of “hamartia/hamartoma” instead of phakoma/phakomata. “Genodermatoses” and “neurocristopathies” were alternative terms still used to define these conditions. Nowadays, however, the most acclaimed terms are “phacomatoses” and “neurocutaneous disorders”, which are used interchangeably. Phacomatoses are a heterogeneous group of conditions (mainly) affecting the skin (with congenital pigmentary/vascular abnormalities and/or tumours), the central and peripheral nervous system (with congenital abnormalities and/or tumours) and the eye (with variable abnormalities). Manifestations may involve many other organs or systems including the heart, vessels, lungs, kidneys and bones. Pathogenically, they are explained by interplays between intra- and extra-neuronal signalling pathways encompassing receptor-to-protein and protein-to-protein cascades involving RAS, MAPK/MEK, ERK, mTOR, RHOA, PI3K/AKT, PTEN, GNAQ and GNA11 pathways, which shed light also to phenotypic variability and overlapping. We hereby review the history, classification, genomics, clinical manifestations, diagnostic criteria, surveillance protocols and therapies, in phacomatoses: (1) predisposing to development of tumours (i.e. the neurofibromatoses and allelic/similar disorders and schwannomatosis; tuberous sclerosis complex; Gorlin–Goltz and Lhermitte–Duclos–Cowden syndromes); (2) with vascular malformations (i.e. Sturge–Weber and Klippel–Trenaunay syndromes; megalencephaly/microcephaly–capillary malformation syndromes; CLOVES, Wyburn–Mason and mixed vascular nevus syndromes; blue rubber bleb nevus syndrome; hereditary haemorrhagic telangiectasia); (3) with vascular tumours (von Hippel–Lindau disease; PHACE(S)); (4) with pigmentary/connective tissue mosaicism (incontinentia pigmenti; pigmentary/Ito mosaicism; mTOR-related megalencephaly/focal cortical dysplasia/pigmentary mosaicism; RHOA-related ectodermal dysplasia; neurocutaneous melanocytosis; epidermal/papular spilus/Becker nevi syndromes; PENS and LEOPARD syndromes; encephalocraniocutaneous lipomatosis; lipoid proteinosis); (5) with dermal dysplasia (cerebellotrigeminal dermal dysplasia); and (6) with twin spotting or similar phenomena (phacomatosis pigmentovascularis and pigmentokeratotica; and cutis tricolor).

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References

  1. Anand G, Vasallo G, Spanou M, Thomas S, Pike M, Kariyawasam DS, Mehta S, Parry A, Durie-Gair J, Nicholson J, Lascelles K, Everett V, Gibbon FM, Jarvis N, Elston J, Evans DG, Halliday D (2018) Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population. Arch Dis Child 103:463–469. https://doi.org/10.1136/archdischild-2017-313154

    Article  PubMed  Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  4. Babu NA, Rajesh E, Krupaa J, Gnananandar G (2015) Genodermatoses. J Pharm Bioallied Sci 7(Suppl 1):S203–S206. https://doi.org/10.4103/0975-7406.155903

    Article  PubMed  PubMed Central  Google Scholar 

  5. Baeck E (2005) Ludo van Bogaert (1897-1989) and the Bunge Institute. Eur J Neurol 12:181–188. https://doi.org/10.1111/j.1468-1331.2004.00944.x

    Article  CAS  PubMed  Google Scholar 

  6. Barros FS, Marussi VHR, Amaral LLF, da Rocha AJ, Campos CMS, Freitas LF, Huisman TAGM, Soares BP (2018) the rare neurocutaneous disorders: update on clinical, molecular, and neuroimaging features. Top Magn Reson Imaging 27:433–462. https://doi.org/10.1097/RMR.0000000000000185

    Article  PubMed  Google Scholar 

  7. Becker B, Strowd RE 3rd (2019) Phakomatoses. Dermatol Clin 37:583–606. https://doi.org/10.1016/j.det.2019.05.015

    Article  CAS  PubMed  Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  10. Bolande R (1974) The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 5:409–429. https://doi.org/10.1016/S0046-8177(74)80021-3

    Article  Google Scholar 

  11. Bolande RP (1997) Neurocristopathy: its growth and development in 20 years. Pediatr Pathol Lab Med 17:1–25

    CAS  PubMed  Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  16. Curatolo P, Riva D (2006) Neurocutaneous syndromes in childhood. John Libbey Eurotext, Montrouge ISBN: 2742006095

    Google Scholar 

  17. Curatolo P (2015) Advances in neurocutaneous disorders. Semin Pediatr Neurol 22:205–310. https://doi.org/10.1016/j.spen.2015.10.004

    Article  PubMed  Google Scholar 

  18. Dies KA, Sahin M (2015) Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes. Handb Clin Neurol 132:3–8. https://doi.org/10.1016/B978-0-444-62702-5.00001-9

    Article  PubMed  Google Scholar 

  19. Enersen OD (2020) Jan van der Hoeve. Available at: https://www.whonamedit.com

  20. Etchevers HC, Dupin E, Le Douarin NM (2019) The diverse neural crest: from embryology to human pathology. Development 146:dev169821. https://doi.org/10.1242/dev.169821

    Article  CAS  PubMed  Google Scholar 

  21. Evans DG, Birch JM, Ramsden RT (1999) Pediatric presentation of type 2 neurofibromatosis. Arch Dis Child 81:496–499. https://doi.org/10.1136/adc.81.6.496

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Evans DG, Baser ME, O’Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R (2005) Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 19:5–12. https://doi.org/10.1080/02688690500081206

    Article  CAS  PubMed  Google Scholar 

  23. Evans DG, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKL, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi S, Ferner RE, Harkness EF, Smith MJ, English Specialist NF2 Research Group (2019) Identifying the deficiencies of current diagnostic criteria forneurofibromatosis 2 using databases of 2777 individuals with molecular testing. Genet Med 21:1525–1533. https://doi.org/10.1038/s41436-018-0384-y

    Article  PubMed  Google Scholar 

  24. Flores-Sarnat L, Sarnat HB (2015) Phenotype/genotype correlations in epidermal nevus syndrome as aneurocristopathy. Handb Clin Neurol 132:9–25. https://doi.org/10.1016/B978-0-444-62702-5.00002-0

    Article  PubMed  Google Scholar 

  25. Gaudioso C, Listernick R, Fisher MJ, Campen CJ, Paz A, Gutmann DH (2019) Neurofibromatosis 2 in children presenting during the first decade of life. Neurology 93:1–4. https://doi.org/10.1212/WNL.0000000000008065

    Article  Google Scholar 

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

    Google Scholar 

  27. Gosein M, Harris A, Pang E, Maharaj P, Chang S (2017) Abdominal imaging findings in neurocutaneous syndromes: looking below the diaphragm. AJR Am J Roentgenol 209:1197–1208. https://doi.org/10.2214/AJR.17.18404

    Article  PubMed  Google Scholar 

  28. Gürsoy S, Erçal D (2018) Genetic evaluation of common neurocutaneous syndromes. Pediatr Neurol 89:3–10. https://doi.org/10.1016/j.pediatrneurol.2018.08.006

    Article  PubMed  Google Scholar 

  29. Halliday D, Emmanouil B, Vassallo G, Lascelles K, Nicholson J, Chandratre S, Anand G, Wasik M, Pretorius P, Evans DG, Parry A, English NF2 research group (2019) Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity. Clin Genet 96:151–162. https://doi.org/10.1111/cge.13551

    Article  CAS  PubMed  Google Scholar 

  30. Hamid RN, Akkurt ZM (2019) Hereditary tumor syndromes with skin involvement. Dermatol Clin 37:607–613. https://doi.org/10.1016/j.det.2019.05.016

    Article  CAS  PubMed  Google Scholar 

  31. Happle R (1993) Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 129:1460–1470

    CAS  PubMed  Google Scholar 

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

    Google Scholar 

  33. Happle R (1996) Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet 66:241–242. https://doi.org/10.1002/(SICI)1096-8628(19961211)66:2<241::AID-AJMG24>3.0.CO;2-S

    Article  CAS  PubMed  Google Scholar 

  34. 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 

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

    Google Scholar 

  36. Happle R (2016) The categories of cutaneous mosaicism: a proposed classification. Am J Med Genet A 170A:452–459. https://doi.org/10.1002/ajmg.a.37439

    Article  CAS  PubMed  Google Scholar 

  37. Happle R (2017) The molecular revolution in cutaneous biology: era of mosaicism. J Invest Dermatol 137:e73–e77. https://doi.org/10.1016/j.jid.2016.03.045

    Article  CAS  PubMed  Google Scholar 

  38. Happle R (2018) The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine. J Eur Acad Dermatol Venereol 32:1075–1088. https://doi.org/10.1111/jdv.14838

    Article  CAS  PubMed  Google Scholar 

  39. Hérissé AL, Poirée M, Boyer C, Soler C, Leloutre B, Geoffray A (2015) Early type 2 neurofibromatosis and congenital retinal hamartoma. Arch Pediatr 22:729–732. https://doi.org/10.1016/j.arcped.2015.04.018

    Article  PubMed  Google Scholar 

  40. Hill CR, Theos A (2019) What’s new in genetic skin diseases. Dermatol Clin 37:229–239. https://doi.org/10.1016/j.det.2018.11.004

    Article  CAS  PubMed  Google Scholar 

  41. Institute Born-Bunge (2020) University of Antwerp. Available at: https://www.bornbunge.be

  42. Islam MP, Roach ES (2015) Neurocutaneous disorders. Hand Clin Neurol 132 ISBN: 9780444627025

  43. Jen M, Nallasamy S (2016) Ocular manifestations of genetic skin disorders. Clin Dermatol 34:242–275. https://doi.org/10.1016/j.clindermatol.2015.11.008

    Article  PubMed  Google Scholar 

  44. Jentarra G, Snyder SL, Narayanan V (2006) Genetic aspects of neurocutaneous disorders. Semin Pediatr Neurol 13:43–47. https://doi.org/10.1016/j.spen.2006.01.010

    Article  PubMed  Google Scholar 

  45. Kemper T (1984) Paul Ivan Yakovlev 1894–1983. Arch Neurol 41:536–540. https://doi.org/10.1001/archneur.1984.04050170082023

    Article  CAS  PubMed  Google Scholar 

  46. Kemper TL (1984) Paul Ivan Yakovlev 1894–1983. J Neuropathol Exp Neurol 43:290–292

    CAS  PubMed  Google Scholar 

  47. Klar N, Cohen B, Lin DDM (2016) Neurocutaneous syndromes. Handb Clin Neurol 135:565–589. https://doi.org/10.1016/B978-0-444-53485-9.00027-1

    Article  PubMed  Google Scholar 

  48. Ko CJ, Atzmony L, Lim Y, McNiff JM, Craiglow BG, Antaya RJ, Choate KA (2019) Review of genodermatoses with characteristic histopathology and potential diagnostic delay. J Cutan Pathol 46:756–765. https://doi.org/10.1111/cup.13520

    Article  PubMed  Google Scholar 

  49. Komiyama M (2017) Cardio-cephalic neural crest syndrome: a novel hypothesis of vascularneurocristopathy. Interv Neuroradiol 23:572–576. https://doi.org/10.1177/1591019917726093

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Korf BR (2005) The phakomatoses. Clin Dermatol 23:78–84. https://doi.org/10.1016/j.clindermatol.2004.09.007

    Article  PubMed  Google Scholar 

  51. Korf BR, Bebin EM (2017) Neurocutaneous disorders in children. Pediatr Rev 38:119–128. https://doi.org/10.1542/pir.2015-0118

    Article  PubMed  Google Scholar 

  52. Kuster W, Happle R (1993) Neurocutaneous disorders in children. Curr Opin Pediatr 5:436–440. https://doi.org/10.1097/00008480-199308000-00011

    Article  CAS  PubMed  Google Scholar 

  53. Lecours AR (1989) Paul Ivan Yakovlev and his teachings on cerebral maturation and asymmetries. J Neurol 4:273–292. https://doi.org/10.1016/0911-6044(89)90018-3

    Article  Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  57. Lowenthal A (1998) Ludo Van Bogaert (1897-1989). J Med Biogr 6:200–202. https://doi.org/10.1177/096777209800600403

    Article  CAS  PubMed  Google Scholar 

  58. Martin JJ (2000) Ludo van Bogaert (1897-1989). J Neurol 247:814–815. https://doi.org/10.1007/s004150070103

    Article  CAS  PubMed  Google Scholar 

  59. Martin JJ, Martin L (1990) Homage to Mr. Ludo van Bogaert. Acta Neurol Belg 90:27–45

    CAS  PubMed  Google Scholar 

  60. Martin L, Martin JJ (1996) Ludo van Bogaert (1897-1989). Acta Neurol Belg 96:254–263

    CAS  PubMed  Google Scholar 

  61. Martins da Silva VP, Marghoob A, Pigem R, Carrera C, Aguilera P, Puig-Butillé JA, Puig S, Malvehy J (2017) Patterns of distribution of giant congenital melanocytic nevi (GCMN): the 6B rule. J Am Acad Dermatol 76:689–694. https://doi.org/10.1016/j.jaad.2016.05.042

    Article  PubMed  Google Scholar 

  62. Martins da Silva V, Martinez-Barrios E, Tell-Martí G, Dabad M, Carrera C, Aguilera P, Brualla D, Esteve-Codina A, Vicente A, Puig S, Puig-Butillé JA, Malvehy J (2019) Genetic abnormalities in large to giant congenital nevi: beyond NRAS mutations. J Invest Dermatol 139:900–908. https://doi.org/10.1016/j.jid.2018.07.045

    Article  CAS  PubMed  Google Scholar 

  63. Mautner VE, Tatagiba M, Guthoff R, Samili M, Pulst SM (1993) Neurofibromatosis type 2 in the pediatric age. Neurosurgery 33:92–96. https://doi.org/10.1227/00006123-199307000-00014

    Article  CAS  PubMed  Google Scholar 

  64. Mellinger JF, Patterson MC (2006) In memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006. Pediatr Neurol 35:47–48. https://doi.org/10.1016/j.pediatrneurol.2006.06.003

    Article  PubMed  Google Scholar 

  65. Nguyen V, Hochman M, Mihm MC Jr, Nelson JS, Tan W (2019) The pathogenesis of port wine stain and Sturge Weber syndrome: complex interactions between genetic alterations and aberrant MAPK and PI3K activation. Int J Mol Sci 20:2243. https://doi.org/10.3390/ijms20092243

    Article  CAS  PubMed Central  Google Scholar 

  66. Nunes F, MacCollin M (2003) Neurofibromatosis type 2 in the pediatric population. J Child Neurol 18:718–724. https://doi.org/10.1177/08830738030180101301

    Article  PubMed  Google Scholar 

  67. OMIMTM (20208) Online Mendelian inheritance in man. The Johns Hopkins University Press, Baltimore. Available at http://www.ncbi.nlm.nih.gov/omim

  68. ORPHANETTM (2020) The portal for rare diseases and orphan drugs. Available at: https://www.orpha.net/consor/cgi-bin/index.php

  69. Philippart M (1990) Ludo van Bogaert. In: Ashwal S (ed) The founders of child neurology. Norman Publishing, San Francisco, pp 854–862

    Google Scholar 

  70. Radermecker J (1990) Academic eulogy of doctor Ludo van Bogaert, titular member and former president. Bull Mem Acad R Med Belg 145:163–170

    CAS  PubMed  Google Scholar 

  71. Roach ES (1992) Neurocutaneous syndromes. Pediatr Clin N Am 39:591–620. https://doi.org/10.1016/s0031-3955(16)38367-5

    Article  CAS  Google Scholar 

  72. Roach ES, van Miller S (2004) Neurocutaneous disorders. Cambridge University Press, New York ISBN: 978-0521781534

    Google Scholar 

  73. Rosser T (2018) Neurocutaneous disorders. Continuum (Minneap Minn) 24:96–129. https://doi.org/10.1212/CON.0000000000000562

    Article  Google Scholar 

  74. Ruggieri M, Huson SM (1999) The neurofibromatoses. An overview. Ital J Neurol Sci 20:89–108. https://doi.org/10.1007/s100720050017

    Article  CAS  PubMed  Google Scholar 

  75. Ruggieri M, Pavone V, De Luca D, Franzò A, Tiné A, Pavone L (1999) Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1). J Pediatr Orthop 19:301–305

    CAS  PubMed  Google Scholar 

  76. Ruggieri M (2000) Cutis tricolor: Congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype. Eur J Pediatr 159:745–749. https://doi.org/10.1007/pl00008339

    Article  CAS  PubMed  Google Scholar 

  77. Ruggieri M, Polizzi A (2000) Segmental neurofibromatosis. J Neurosurg 93:530–532. https://doi.org/10.3171/jns.2000.93.3.0530

    Article  CAS  PubMed  Google Scholar 

  78. Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56:1433–1443. https://doi.org/10.1212/wnl.56.11.1433

    Article  CAS  PubMed  Google Scholar 

  79. Ruggieri M, Pavone P, Polizzi A, Di Pietro M, Scuderi A, Gabriele A, Spalice A, Iannetti P (2004) Ophthalmological manifestations in segmental (localised) neurofibromatosis type 1 (NF1). Br J Ophthalmol 88:1429–1433. https://doi.org/10.1136/bjo.2004.043802

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  80. Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L (2005) Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics 36:21–34. https://doi.org/10.1055/s-2005-837581

    Article  CAS  PubMed  Google Scholar 

  81. Ruggieri M, Pascual-Castroviejo I, Di Rocco C (2008) Neurocutaneous disorders. Phakomatoses and hamartoneoplastic syndromes. Springer, Wien

    Google Scholar 

  82. 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. https://doi.org/10.1007/s10048-013-0354-0

    Article  CAS  PubMed  Google Scholar 

  83. Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D’Orazi V, Pavone P, Pirrone C, Magro G, Platania N, Cavallaro S, Muglia M, Nicita F (2015) The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. Clin Genet 87:401–410. https://doi.org/10.1111/cge.12498

    Article  CAS  PubMed  Google Scholar 

  84. Ruggieri M, Praticò AD (2015) Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 22:207–233. https://doi.org/10.1016/j.spen.2015.11.001

    Article  PubMed  Google Scholar 

  85. Ruggieri M, Praticò AD, Serra A, Maiolino L, Cocuzza S, Caltabiano R, Polizzi A (2017) 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. https://doi.org/10.1007/s00381-016-3226-8

    Article  PubMed  Google Scholar 

  86. Ruggieri M, Micali G, Praticò AD (2018) Rare neurocutaneous disorders: state of the art and update. J Pediatr Neurol 16(253):378

    Google Scholar 

  87. Ruggieri M, Praticò AD, Caltabiano R, Polizzi A (2018) 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 176:515–550. https://doi.org/10.1002/ajmg.a.38486

    Article  PubMed  Google Scholar 

  88. Ruggieri M, Praticò AD, Lacarrubba F, Micali G, Schepis C, Polizzi A (2018c) Archetypical patterns of skin manifestations in neurocutaneous disorders. J Pediatr Neurol 16:255–264

    Google Scholar 

  89. Ruggieri M, Catanzaro S, Marceca PG, Praticò AD (2019) Sindromi neurocutanee. Prospettive Pediatria 49:109–128 Available at: https://www.sip.it/wp-content/uploads/2019/07/02B_Ruggieri.pdf

    Google Scholar 

  90. Ruggieri M, Praticò AD, Polizzi A (2020) Neurocutaneous disorders. In: Di Rocco C, Pang D, Rutka JD (eds) Textbook of pediatric neurosurgery. Springer International Publishing, New York ISBN: 978-3-319-72167-5

  91. Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR (2017) Neurofibromatosis type 2: multiple intra-dermal tumors in a toddler. Am J Med Genet A 173:1447–1449. https://doi.org/10.1002/ajmg.a.38177

    Article  PubMed  Google Scholar 

  92. Salpietro V, Polizzi A, Bertè LF, Chimenz R, Chirico V, Manti S, Ferraù V, Salpietro A, Arrigo T, Ruggieri M (2012) Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis. Neuro Endocrinol Lett 33:569–573

    PubMed  Google Scholar 

  93. Salpietro V, Polizzi A, Di Rosa G, Romeo AC, Dipasquale V, Morabito P, Chirico V, Arrigo T, Ruggieri M (2014) Adrenal disorders and the pediatric brain: pathophysiological considerations and clinical implications. https://www.scopus.com/record/display.uri?eid=2-s2.0-84931291890&origin=AuthorEval&zone=hIndex-DocumentList Int J Endocrinol 2014:282489. https://doi.org/10.1155/2014/282489

  94. 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 EAN: 9782742006090

    Google Scholar 

  95. Schierbeck J, Vestergaard T, Bygum A (2019) Skin cancer associated genodermatoses: a literature review. Acta Derm Venereol 99:360–369. https://doi.org/10.2340/00015555-3123

    Article  CAS  PubMed  Google Scholar 

  96. Sorge G, Ruggieri M, Polizzi A, Scuderi A, Di Pietro M (1996) SHORT syndrome: a new case with probable autosomal dominant inheritance. Am J Med Genet 61:178–181. https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2<178::AID-AJMG16>3.0.CO;2-R

    Article  CAS  PubMed  Google Scholar 

  97. Spitz JL (2005) Genodermatoses. A clinical guide to genetic skin disorders, 2nd edn. Lippincott Williams & Wilkins, San Francisco

    Google Scholar 

  98. Sturge WA (1871) Case of partial epilepsia apparently due to lesion of one of vasomotor centres of brain. Trans Clin Soc Lond 12:162–167

    Google Scholar 

  99. Sybert VP (1997) Genetic skin disorders. Oxford University Press, New York

    Google Scholar 

  100. Swaiman KF, Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, Pearl PL, Shevell MI (2017) Swaiman’s pediatric neurology. Principles and practice, 6th edn. Elsevier, New York ISBN: 978-0323371018

    Google Scholar 

  101. Tadini G, Brena M, Gelmetti C, Pezani L (2015) Atlas of genodermatoses, 2nd edn. CRC, New York ISBN: 978-1466598355

    Google Scholar 

  102. Tang X, Gao J, Yang X, Guo X (2018) A 10-year delayed diagnosis of blue rubber bleb nevus syndromecharacterized by refractory iron-deficiency anemia: a case report and literature review. Medicine (Baltimore) 97:e10873. https://doi.org/10.1097/MD.0000000000010873

    Article  Google Scholar 

  103. Ullrich NJ (2016) Neurocutaneous syndromes and brain tumors. J Child Neurol 31:1399–1411. https://doi.org/10.1177/0883073815604220

    Article  PubMed  Google Scholar 

  104. Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB (2019) Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet 51:1660. https://doi.org/10.1038/s41588-019-0527-3

    Article  CAS  PubMed  Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  108. 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 

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

    Google Scholar 

  110. 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 

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

    Google Scholar 

  112. van Steensel MA (2015) Neurocutaneous manifestations of genetic mosaicism. J Pediatr Genet 4:144–153. https://doi.org/10.1055/s-0035-1564441

    Article  PubMed  PubMed Central  Google Scholar 

  113. Vezina G, Barkovich AJ (2019) Neurocutaneous disorders. In: Barkovic AJ, Raybaud C (eds) Pediatric neuroimaging, 6th edn. Wolters Kluwer, Philadelphia, pp 633–702 ISBN: 9781496337207

    Google Scholar 

  114. Victor M (2009) Paul Yakovlev remembered: an interview with Maurice Victor. Interviewed by Robert Laureno. Can J Neurol Sci 36:311–314

    PubMed  Google Scholar 

  115. Viskochil D (2018) Neurocutaneous disorders. Am J Med Genet C: Semin Med Genet 178:278–280. https://doi.org/10.1002/ajmg.c.31650

    Article  Google Scholar 

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

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

    Google Scholar 

  118. Von Hippel E (1911) Die anatomische Grundlage der von mir beschriebenen “sehr seltene Erkrankung der Netzhaut”. A von Graefe’s Arch Ophthalmol 79:350–377

    Google Scholar 

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

    Google Scholar 

  120. Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA (2014) New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol 171:861–867. https://doi.org/10.1111/bjd.13203

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  121. 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 R Soc Med 22:431

    PubMed  PubMed Central  Google Scholar 

  122. Who named it? An online catalog of eponyms in medical literature (2020) Available at http://www.whonamedit.com

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

    Google Scholar 

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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, AOU “Policlinico”, PO “G. Rodolico”, Via S. Sofia, 78, 95125, Catania, Italy

    Martino Ruggieri, Stefano Catanzaro & Andrea D. Praticò

  2. Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy

    Agata Polizzi

  3. Unit of Bioinformatics, Department of Clinical and Experimental Medicine, Section of Computational Sciences, University of Catania, Catania, Italy

    Gioacchino Paolo Marceca

  4. Unit of Neonatology and Neonatal Intensive Care Unit [NICU], AOU “Policlinico”, PO “San Marco”, University of Catania, Catania, Italy

    Stefano Catanzaro

  5. Pediatric Neurosurgery, International Neuroscience Institute [INI], Hanover, Germany

    Concezio Di Rocco

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  1. Martino Ruggieri
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Ruggieri, M., Polizzi, A., Marceca, G.P. et al. Introduction to phacomatoses (neurocutaneous disorders) in childhood. Childs Nerv Syst 36, 2229–2268 (2020). https://doi.org/10.1007/s00381-020-04758-5

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