Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 140-149 , September 2007

The Phakomatoses: Dermatologic Clues to Neurologic Anomalies

  • Catherine Bearce Nowak, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Catherine Bearce Nowak, MD, The National Birth Defects Center, 40 Second Avenue, Suite 520, Waltham, MA 02451-1137.

References 

  1. Winter RM. What’s in a face?. Nat Genet. 1996;12:124–129
  2. van der Hoeve J. The Doyne Memorial lecture: Eye symptoms in phakomatoses. Trans Ophth Soc UK. 1932;52:380
  3. In: Stedman’s Medical Dictionary. (ed 24). 1982;p. 1064
  4. Rosser T, Panigrahy A, McClintock W. The diverse clinical manifestations of tuberous sclerosis complex: a review. Semin Pediatr Neurol. 2006;13:27–36
  5. Jacobs AH, Walton RG. The incidence of birthmarks in the neonate. Pediatrics. 1976;58:218–222
  6. Enjolras O, Riche MC, Merland JJ. Facial Port-Wine stains and Sturge-Weber syndrome. Pediatrics. 1985;76:48–51
  7. Tallman B, Tan OT, Morelli JG, et al. Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics. 1991;87:323–327
  8. Cakirer S, Yagmurlu B, Savas MR. Sturge-Weber syndrome: Diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. Acta Radiol. 2005;46:407–410
  9. Garzon MC, Huang JT, Enjolras O, et al. Vascular malformations part II: Associated syndromes. J Am Acad Dermatol. 2007;56:541–564
  10. Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: Comparison of unihemishperic and bihemispheric involvement. J Child Neurol. 1988;3:181–184
  11. Hatfield LA, Crone NE, Kossoff EH, et al. Quantitative EEG asymmetry correlates with clinical severity in unilateral Sturge-Weber syndrome. Epilepsia. 2007;48:191–195
  12. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet. 1995;57:35–45
  13. Muniz AE. Sturge-Weber syndrome presenting as an acute life-threatening event. Pediatr Emerg Care. 2004;20:610–612
  14. Mentzel HJ, Dieckmann A, Fitzek C, et al. Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography. Pediatr Radiol. 2005;35:85–90
  15. Thomas-Sohl KA, Vaslow DF, Maria B. Sturge-Weber syndrome: A review. Pediatr Neurol. 2004;30:303–310
  16. Lee JS, Asano E, Muzik O, et al. Sturge-Weber syndrome: Correlation between clinical course and FDG PET findings. Neurology. 2001;57:189–195
  17. Kramer U, Kahana E, Shorer Z, et al. Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures. Dev Med Child Neurol. 2000;42:756–759
  18. Kossoff EH, Buck C, Freeman JM. Outcome of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology. 2002;59:1735–1738
  19. Arisoy AE, Tunnessen WW. Sturge-Weber syndrome. Arch Pediatr Adolesc Med. 1994;148:955–956
  20. Morelli JG, Weston WL, Huff JC, et al. Initial lesion size as a predictive factoring determining the response of port-wine stains in children treated with the pulsed dye laser. Arch Pediatr Adolesc Med. 1995;149:1142–1144
  21. Tan OT, Sherwood K, Gilchrist BA. Treatment of children with port-wine stain using the flashlamp-pulsed tunable dye laser. N Engl J Med. 1989;320:416–421
  22. Ashinoff RA, Geronemus RG. Flashlamp-pumped pulsed tunable dye laser for port-wine stains in infancy: Earlier versus later treatment. J Am Acad Dermatol. 1991;24:467–472
  23. Korf B. Diagnostic outcome in children with multiple café au lait spots. Pediatrics. 1992;90:924–927
  24. National Institutes of Health Consensus Development Conference. Neurofibromatosis: Conference Statement. Arch Neurol. 1988;45:575–578
  25. Tonsgard JH. Clinical manifestations and management of Neurofibromatosis type 1. Semin Pediatr Neurol. 2006;13:2–7
  26. DeBella K, Szudek J, Friedman M. Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105:608–614
  27. Listernick R, Louis DN, Packer RJ, et al. Optic pathway gliomas in children with neurofibromatosis type 1: Consensus statement from the NF1 optic pathway glioma study. Ann Neurol. 1997;41:1433–1439
  28. Listernick R, Ferner RE, Piersall L, et al. Late onset optic pathway tumors in children with neurofibromatosis 1. Neurology. 2004;63:1944–1946
  29. Thiagalingam S, Flaherty M, Billson F, et al. Neurofibromatosis type I and optic pathway gliomas: Follow-up of 54 patients. Ophthalmology. 2004;111:568–577
  30. Ruggieri M. The different forms of neurofibromatosis. Childs Nerv Syst. 1999;15:295–308
  31. Lee MJ, Stephenson DA. Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 2007;20:135–141
  32. Habiby R, Silverman B, Listernick R, et al. Precocious puberty in children with neurofibromatosis type 1. J Pediatr. 1995;126:364–367
  33. Hartman AL, Kossoff EH. Epilepsy surgery for the neurocutaneous disorders. Semin Pediatr Neurol. 2006;13:63–67
  34. North KN, Riccardi V, Samango-Sprouse C, et al. Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force. Neurology. 1997;48:1121–1127
  35. Levine TM, Materek A, Abel J, et al. Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol. 2006;13:8–20
  36. Kluwe L, Siebert R, Gesk S, et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat. 2004;23:111–116
  37. Upadhyaya M, Ruggieri M, Maynard J, et al. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet. 1998;102:591–597
  38. Freitag CM. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry. 2007;12:2–22
  39. Page PZ, Page GP, Ecosse E, et al. Impact of neurofibromatosis 1 on quality of life: A cross-sectional study of 176 American cases. Am J Med Genet. 2006;140A:1893–1898
  40. Mautner VF, Lindenau M, Baser M, et al. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery. 1996;38:880–886
  41. Guttmann DH, Aylsworth A, Carey J, et al. The diagnostic evaluation and multipdisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51–57
  42. Baser ME, Friedman JM, Wallace AJ, et al. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology. 2002;59:1759–1765
  43. Evans DGR, Birch JM, Ramsden RT. Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child. 1999;81:496–499
  44. Mautner VF, Tatagiba M, Guthoff R, et al. Neurofibromatosis in the pediatric age group. Neurosurgery. 1993;33:92–96
  45. Evans DGR, Baser ME, O’Reilly B, et al. Management of the patient and family with neurofibromatosis 2: A consensus conference statement. Br J Neurosurg. 2005;19:5–12
  46. Gorlin RJ, Cohen MM, Condon LM, et al. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet. 1992;44:307–314
  47. Higginbottom MC, Schultz P. The Bannayan syndrome: An autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. Pediatrics. 1982;69:632–634
  48. Erkek E, Hizel S, Sanly C, et al. Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. J Am Acad Dermatol. 2005;53:639–643
  49. Parisi MA, Dinulos MB, Leppis KA, et al. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome J. Med Genet. 2001;38:52–58
  50. Cohen MM. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. Am J Med Genet. 2003;117C:C49–C56
  51. Moretti-Ferreira D, Koiffmann CP, Souza DH, et al. Macrocephaly, multiple lipomas and hemangiomata (Bannayan-Zonana syndrome): Genetic heterogeneity or autosomal dominant focus with at least two different allelic forms?. Am J Med Genet. 1989;34:548–551
  52. Christian CL, Fleisher DR, Feldman EJ, et al. Lipid storage myopathy associated with Ruvalcaba-Myhre-Smith syndrome: Treatment with carnitine. Clin Res. 1991;39:64A;(abstr)
  53. DiLiberti JH. Prevalence of lipid storage myopathy in the macrocephaly syndromes: Clinical correlations and outcome of carnitine therapy. Pediatr Res. 1991;29:68A;(abstr)
  54. Eng C. Constipation, polyps, or cancer? (Let PTEN predict your future). Am J Med Genet. 2003;122A:315–322
  55. Turner JT, Cohen MM, Biesecker LG. Reassessment of the proteus syndrome literature: Application of diagnostic criteria to published cases. Am J Med Genet. 2004;130A:111–122
  56. Hotamisligil GS. Proteus syndrome and hamartoses with overgrowth. Dysmorphol Clin Genet. 1990;4:87–102
  57. Nguyen D, Turner J, Olsen C, et al. Cutaneous manifestations of Proteus syndrome. Arch Dermatol. 2004;140:947–953
  58. Hoeger PH, Martinez A, Maerker J, et al. Vascular anomalies in Proteus syndrome. Clin Exp Dermatol. 2004;29:222–230
  59. Cohen MM. Proteus syndrome: Clinical evidence for somatic mosaicism and selective review. Am J Med Genet. 1993;47:645–652
  60. Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003;73:1240–1249
  61. Huq AH, Chugani DC, Hukku B, et al. Evidence of somatic mosaicism in Sturge-Weber syndrome. Neurology. 2002;59:780–782
  62. Zhou XP, Hampel H, Thiele H, et al. Association of germline mutation in the PTEN tumour suppressor gene and a subset of Proteus and Proteus-like syndromes. Lancet. 2001;358:210–211
  63. Smith JM, Kirk EPE, Theodosopoulos G, et al. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet. 2002;30:937–940
  64. Cohen MM, Turner JT, Biesecker LG. Proteus syndrome misdiagnosis with PTEN mutations. Am J Med Genet. 2003;122:323–324
  65. American Academy of Pediatrics Committee on Bioethics. Ethical issues with genetic testing in Pediatrics. Pediatrics. 2001;107:1451–1455
  66. Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet. 1998;7:507–515
  67. Longy M, Coulon V, Duboue B, et al. Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. J Med Genet. 1998;35:886–889
  68. Celebi JT, Tsou HC, Chen FF, et al. Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet. 1999;36:360–364
  69. Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005;42:318–321

PII: S1071-9091(07)00053-8

doi: 10.1016/j.spen.2007.07.007

Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 140-149 , September 2007