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The Rare Phakomatoses

  • Simon Edelstein
  • Thomas P. Naidich
  • T. Hans Newton

Abstract

The rare phakomatoses may be grouped broadly into vascular phakomatoses and melanophakomatoses. Other entities, such as basal cell nevus syndrome and organoid nevus syndrome, will also be discussed here. Finally, Cowden-Lhermitte-Duclos syndrome will be discussed at the end of this chapter.

Keywords

Fibrous Dysplasia Hereditary Hemorrhagic Telangiectasia Ataxia Telangiectasia Nevoid Basal Cell Carcinoma Syndrome Hereditary Hemorrhagic Telangiectasia Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Spang S, Lindemuth R, Kasmann B, Ruprecht KW. Clinical aspects of ataxia teleangiectatica (Louis-Bar syndrome). Klin Monatsbl Augenheilkd 1995; 206:273–276.PubMedCrossRefGoogle Scholar
  2. 2.
    Kuljis RO, Xu Y, Aguila MC, Baltimore D. Degeneration of neurons, synapses, and neuropil and glial activation in a murine Atm knockout model of ataxia-telangiectasia. Proc Natl Acad Sci USA 1997; 94:12688–12693.PubMedCrossRefGoogle Scholar
  3. 3.
    McKinnon PJ. Ataxia telangiectasia: new neurons and ATM. Trends Mol Med 2001; 7:233–234.PubMedCrossRefGoogle Scholar
  4. 4.
    Miyagi K, Mukawa J, Kinjo N, Horikawa K, Mekaru S, Nakasone S, Koga H, Higa Y, Naito M. Astrocytoma linked to familial ataxia-telangiectasia. Acta Neurochir 1995; 135:87–92.CrossRefGoogle Scholar
  5. 5.
    Sardanelli F, Parodi RC, Ottonello C, Renzetti P, Saitta S, Lignana E, Mancardi GL. Cranial MRI in ataxia-telangiectasia. Neuroradiology 1995; 37:77–82.PubMedCrossRefGoogle Scholar
  6. 6.
    Rolig RL, McKinnon PJ. Linking DNA damage and neurodegeneration. Trends Neurosci 2000; 23:417–424.PubMedCrossRefGoogle Scholar
  7. 7.
    Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268:1749–1753.PubMedCrossRefGoogle Scholar
  8. 8.
    Soares HD, Morgan JI, McKinnon PJ. Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia. Neuroscience 1998; 86:1045–1054.PubMedCrossRefGoogle Scholar
  9. 9.
    Kamiya M, Yamanouchi H, Yoshida T, Arai H, Yokoo H, Sasaki A, Hirato J, Nakazato Y, Sakazume Y, Okamoto K. Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review. Pathol Int 2001; 51:271–276.PubMedCrossRefGoogle Scholar
  10. 10.
    Barkovich AJ. Pediatric Neuroimaging, 3nd edn. Philadelphia: Lippincott Williams & Wilkins, 2000.Google Scholar
  11. 11.
    Taylor AM, Metcalfe JA, Thick J, Mak YF. Leukemia and lymphoma in ataxia telangiectasia. Blood 1996; 87:423–438.PubMedGoogle Scholar
  12. 12.
    Lavin MF, Khanna KK. ATM: the protein encoded by the gene mutated in the radiosensitive syndrome ataxia-telangiectasia. Int J Radiat Biol 1999; 75:1201–1214.PubMedCrossRefGoogle Scholar
  13. 13.
    Bekiesinska-Figatowska M, Chrzanowska KH, Sikorska J, Walecki J, Krajewska-Walasek M, Jozwiak S, Kleijer WJ. Cranial MRI in the Nijmegen breakage syndrome. Neuroradiology 2000; 42:43–47.PubMedCrossRefGoogle Scholar
  14. 14.
    Spacey SD, Gatti RA, Bebb G. The molecular basis and clinical management of ataxia telangiectasia. Can J Neurol Sci 2000; 27:184–191.PubMedGoogle Scholar
  15. 15.
    Menkes JH. Textbook of Child Neurology, 5th edn. Lippincott Williams & Wilkins, 2000.Google Scholar
  16. 16.
    Larnaout A, Belal S, Ben Hamida C, Ben Hamida M, Hentati F. Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings. J Neurol 1998; 245:231–235.PubMedCrossRefGoogle Scholar
  17. 17.
    Brown DG, Hilal SK, Tenner MS. Wyburn-Mason syndrome. Report of two cases without retinal involvement. Arch Neurol 1973; 28:67–69.PubMedGoogle Scholar
  18. 18.
    Patel U, Gupta SC. Wyburn-Mason syndrome. A case report and review of the literature. Neuroradiology 1990; 31:544–546.PubMedCrossRefGoogle Scholar
  19. 19.
    Moussa RF, Wong JH, Awad IA. Genetic factors related to intracranial arteriovenous malformations. Neurochirurgie 2001; 47[2–3 Pt 2]:154–157.PubMedGoogle Scholar
  20. 20.
    Theron J, Newton T, Hoyt W. Unilateral retinocephalic vascular malformations. Neuroradiology 1974;7:185–196.PubMedCrossRefGoogle Scholar
  21. 21.
    Kim J, Kim OH, Suh JH, Lew HM. Wyburn-Mason syndrome: an unusual presentation of bilateral orbital and unilateral brain arteriovenous malformations. Pediatr Radiol 1998; 28:161.PubMedCrossRefGoogle Scholar
  22. 22.
    Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918–924.PubMedCrossRefGoogle Scholar
  23. 23.
    Maher CO, Piepgras DG, Brown RD Jr, Friedman JA, Pollock BE. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 2001; 32:877–882.PubMedGoogle Scholar
  24. 24.
    Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995; 4:945–949.PubMedCrossRefGoogle Scholar
  25. 25.
    Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54:714–729.PubMedCrossRefGoogle Scholar
  26. 26.
    Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996; 33:256–257.PubMedCrossRefGoogle Scholar
  27. 27.
    Azuma H. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest 2000;47:81–90.PubMedGoogle Scholar
  28. 28.
    Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 1997; 61:60–67.PubMedCrossRefGoogle Scholar
  29. 29.
    McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33–34. Nat Genet 1994; 6:197–204.PubMedCrossRefGoogle Scholar
  30. 30.
    Shovlin, C.L., Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia. Thromb Haemost 1997; 78:145–150.PubMedGoogle Scholar
  31. 31.
    Pau H, Carney AS, Murty GE. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations. Clin Otolaryngol 2001; 26:93–98.PubMedCrossRefGoogle Scholar
  32. 32.
    Fulbright RK, Chaloupka JC, Putman CM, Sze GK, Merriam MM, Lee GK, Fayad PB, Awad IA, White RI Jr. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol 1998; 19:477–484.PubMedGoogle Scholar
  33. 33.
    Roman G, Fisher M, Perl DP, Poser CM. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature. Ann Neurol 1978; 4:130–144.PubMedCrossRefGoogle Scholar
  34. 34.
    Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990;95:422–427.PubMedCrossRefGoogle Scholar
  35. 35.
    Osborn AG. Diagnostic Neuroradiology. St. Louis, Mosby-Year Book, 1994.Google Scholar
  36. 36.
    Moodley M, Ramdial P. Blue rubber bleb nevus syndrome: case report and review of the literature. Pediatrics 1993; 92:160–162.PubMedGoogle Scholar
  37. 37.
    Shahed M, Hagenmuller F, Rosch T, Classen M, Encke A, Siewert JR, Ysawy MI, al Karawi M. A 19-year-old female with blue rubber bleb nevus syndrome. Endoscopic laser photocoagulation and surgical resection of gastrointestinal angiomata. Endoscopy 1990; 22:54–56.PubMedCrossRefGoogle Scholar
  38. 38.
    Fleischer AB Jr, Panzer SM, Wheeler CE. Blue rubber bleb nevus syndrome in a black patient: a case report. Cutis 1990; 45:103–105.PubMedGoogle Scholar
  39. 39.
    Gallo SH, McClave SA. Blue rubber bleb nevus syndrome: gastrointestinal involvement and its endoscopic presentation. Gastrointest Endosc 1992; 38:72–76.PubMedCrossRefGoogle Scholar
  40. 40.
    Rodrigues D, Bourroul ML, Ferrer AP, Monteiro Neto H, Goncalves ME, Cardoso SR. Blue rubber bleb nevus syndrome. Rev Hosp Clin Fac Med Sao Paulo 2000; 55:29–34.PubMedGoogle Scholar
  41. 41.
    Arguedas MR, Shore G, Wilcox CM. Congenital vascular lesions of the gastrointestinal tract: blue rubber bleb nevus and Klippel-Trenaunay syndromes. South Med J 2001; 94:405–410.PubMedGoogle Scholar
  42. 42.
    Oksuzoglu BC, Oksuzoglu G, Cakir U, Bayir T, Esen M. Blue rubber bleb nevus syndrome. Am J Gastroenterol 1996; 91:780–782.PubMedGoogle Scholar
  43. 43.
    Berlyne G, Berlyne N. Anaemia due to blue-rubber-bleb naevus disease. Lancet 1960; 2:1275–1277.CrossRefGoogle Scholar
  44. 44.
    Munkvad M. Blue rubber bleb nevus syndrome. Dermatologica 1983;167:307–309.PubMedCrossRefGoogle Scholar
  45. 45.
    Walshe MM, Evans CD, Warin RP. Blue rubber bleb naevus. Br Med J 1966; 2:931–932.PubMedCrossRefGoogle Scholar
  46. 46.
    Akerman A, Naidich TP. Blue rubber bleb naevus syndrome. Int J Neuroradiol 1999;5:185–191.Google Scholar
  47. 47.
    Lichtig C, Alroy G, Gellei B, Valero A. Multiple skin and gastro-intestinal haemangiomata (blue rubber-bleb nevus). Report of case with thrombocytopenia, hypercalcemia and coinciding cystic cell carcinoma. Dermatologica 1971; 142:356–362.PubMedCrossRefGoogle Scholar
  48. 48.
    Oranje AP. Blue rubber bleb nevus syndrome. Pediatr Dermatol 1986; 3:304–310.PubMedCrossRefGoogle Scholar
  49. 49.
    Sandhu KS, Cohen H, Radin R, Buck FS. Blue rubber bleb nevus syndrome presenting with recurrences. Dig Dis Sci 1987; 32:214–219.PubMedCrossRefGoogle Scholar
  50. 50.
    Carr MM, Jamieson CG, Lal G. Blue rubber bleb nevus syndrome. Can J Surg 1996;39:59–62.PubMedGoogle Scholar
  51. 51.
    Kim SJ. Blue rubber bleb nevus syndrome with central nervous system involvement. Pediatr Neurol 2000; 22:410–412.PubMedCrossRefGoogle Scholar
  52. 52.
    Satya-Murti S, Navada S, Eames F. Central nervous system involvement in blue-rubber-bleb-nevus syndrome. Arch Neurol 1986; 43:1184–1186.PubMedGoogle Scholar
  53. 53.
    Rennie IG, Shortland JR, Mahood JM, Browne BH. Periodic exophthalmos associated with the blue rubber bleb naevus syndrome: a case report. Br J Ophthalmol 1982; 66:594–599.PubMedCrossRefGoogle Scholar
  54. 54.
    Garen PD, Sahn EE. Spinal cord compression in blue rubber bleb nevus syndrome. Arch Dermatol 1994;130:934–935.PubMedCrossRefGoogle Scholar
  55. 55.
    Wong YC, Li YW, Chang MH. Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome. Pediatr Radiol 1994; 24:600–601.PubMedCrossRefGoogle Scholar
  56. 56.
    McCarthy JC, Goldberg MJ, Zimbler S. Orthopaedic dysfunction in the blue rubber-bleb nevus syndrome. J Bone Joint Surg Am 1982; 64:280–283.PubMedGoogle Scholar
  57. 57.
    Jorizzo JR, Amparo EG. MR imaging of blue rubber bleb nevus syndrome. J Comput Assist Tomogr 1986; 10:686–688.PubMedCrossRefGoogle Scholar
  58. 58.
    Waybright EA, Selhorst JB, Rosenblum WI, Suter CG. Blue rubber bleb nevus syndrome with CNS involvement and thrombosis of a vein of galen malformation. Ann Neurol 1978; 3:464–467.PubMedCrossRefGoogle Scholar
  59. 59.
    Sherry RG, Walker ML, Olds MV. Sinus pericranii and venous angioma in the blue-rubber bleb nevus syndrome. AJNR Am J Neuroradiol 1984; 5:832–834.PubMedGoogle Scholar
  60. 60.
    Kunishige M, Azuma H, Masuda K, Shigekiyo T, Arii Y, Kawai H, Saito S. Interferon alpha-2a therapy for disseminated intravascular coagulation in a patient with blue rubber bleb nevus syndrome. A case report. Angiology 1997; 48:273–277.PubMedCrossRefGoogle Scholar
  61. 61.
    Jaffe R. Multiple hemangiomas of the skin and the internal organs. Arch Pathol 1929; 7:44–54.Google Scholar
  62. 62.
    Crompton JL, Taylor D. Ocular lesions in the blue rubber bleb naevus syndrome. Br J Ophthalmol 1981; 65:133–137.PubMedCrossRefGoogle Scholar
  63. 63.
    Gass JD. Cavernous hemangioma of the retina. A neurooculo-cutaneous syndrome. Am J Ophthalmol 1971; 71:799–814.PubMedGoogle Scholar
  64. 64.
    McCannel CA, Hoenig J, Umlas J, Woog JJ, Newman AN, Bateman JB. Orbital lesions in the blue rubber bleb nevus syndrome. Ophthalmology 1996;103:933–936.PubMedGoogle Scholar
  65. 65.
    Bean W. Dyschondroplasia and hemangiomata (Maffucci’s syndrome). Arch Intern Med 1955;95:767–778.Google Scholar
  66. 66.
    Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996; 132:307–311.PubMedCrossRefGoogle Scholar
  67. 67.
    Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. J Pediatr 2001; 139:117–123.PubMedCrossRefGoogle Scholar
  68. 68.
    Rossi A, Bava GL, Biancheri R, Tortori-Donati P. Posterior fossa and arterial abnormalities in patients with facial capillary haemangioma: presumed incomplete phenotypic expression of PHACES syndrome. Neuroradiology 2001; 43:934–940.PubMedCrossRefGoogle Scholar
  69. 69.
    Coats DK, Paysse EA, Levy ML. PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology 1999;106:1739–1741.PubMedCrossRefGoogle Scholar
  70. 70.
    Burrows PE, Robertson RL, Mulliken JB, Beardsley DS, Chaloupka JC, Ezekowitz RA, Scott RM. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology 1998; 207:601–607.PubMedGoogle Scholar
  71. 71.
    Pascual-Castroviejo I. Vascular and non-vascular intracranial malformations associated with external capillary hemangiomas. Neuroradiology 1978; 16:82–84.PubMedCrossRefGoogle Scholar
  72. 72.
    Tortori-Donati P, Fondelli MP, Rossi A, Bava GL. Intracranial contrast-enhancing masses in infants with capillary haemangioma of the head and neck: intracranial capillary haemangioma? Neuroradiology 1999; 41:369–375.PubMedCrossRefGoogle Scholar
  73. 73.
    Goh WHS LR. A new 3C syndrome: cerebellar hypoplasia, cavernous hemangioma and coarctations of the aorta. Dev Med Child Neurol 1993; 35:631–641.Google Scholar
  74. 74.
    Reese V, Frieden IJ, Paller AS, Esterly NB, Ferriero D, Levy ML, Lucky AW, Gellis SE, Siegfried EC. The association of facial hemangiomas with Dandy-Walker and other posterior fossa malformations. J Pediatr 1993; 122:379–384.PubMedCrossRefGoogle Scholar
  75. 75.
    Sawaya RMR. Dandy-Walker syndrome:clinical analysis of 23 cases. J Neurosurg 1981; 55:89–98.PubMedCrossRefGoogle Scholar
  76. 76.
    Steiner J, Adamsbaum C, Desguerres I, Lalande G, Raynaud F, Ponsot G, Kalifa G. Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review. Pediatr Radiol 1996; 26:763–768.PubMedCrossRefGoogle Scholar
  77. 77.
    Ruggieri M, Tigano G, Mazzone D, Tine A, Pavone L. Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). Neurology 1996;46:485–492.PubMedGoogle Scholar
  78. 78.
    Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol 2000;15:635–644.PubMedCrossRefGoogle Scholar
  79. 79.
    Blaser S, Jay V, Krafchik B. Hypomelanosis of Ito (Incontinentia Pigmenti Achromians). Int J Neuroradiol 1996; 2:176–181.Google Scholar
  80. 80.
    Kasmann-Kellner B, Jurin-Bunte B, Ruprecht KW. Incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosis to related dermato-ocular syndromes. Ophthalmologica 1999; 213:63–69.PubMedCrossRefGoogle Scholar
  81. 81.
    Aydingoz U, Midia M. Central nervous system involvement in incontinentia pigmenti: cranial MRI of two siblings. Neuroradiology 1998; 40:364–366.PubMedCrossRefGoogle Scholar
  82. 82.
    Shastry BS. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). J Hum Genet 2000; 45:323–326.PubMedCrossRefGoogle Scholar
  83. 83.
    Naidich TP. The lines of Blaschko. Int J Neuroradiol 1996; 2:541.Google Scholar
  84. 84.
    Happle R. Lyonization and the lines of Blaschko. Hum Genet 1985; 70:200–206.PubMedCrossRefGoogle Scholar
  85. 85.
    Cohen PR. Incontinentia pigmenti: clinicopathologic characteristics and differential diagnosis. Cutis 1994; 54:161–166.PubMedGoogle Scholar
  86. 86.
    Urban J, Toruniowa B, Janniger CK, Czelej D, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations. Cutis 1996; 58:329–336.PubMedGoogle Scholar
  87. 87.
    Zvulunow A, Esterly NB. Neurocutaneous syndromes associated with pigmentary skin lesions. J Am Acad Dermatol 1995; 32:915–935.CrossRefGoogle Scholar
  88. 88.
    Lee AG, Goldberg MF, Gillard JH, Barker PB, Bryan RN. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med 1995; 149:573–580.PubMedGoogle Scholar
  89. 89.
    Holmstrom G, Thoren K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand 2000; 78:348–353.PubMedCrossRefGoogle Scholar
  90. 90.
    Miteva L, Nikolova A. Incontinentia pigmenti: a case associated with cardiovascular anomalies. Pediatr Dermatol 2001; 18:54–56.PubMedCrossRefGoogle Scholar
  91. 91.
    Holmstrom G, Bergendal B, Hallberg G, Marcus S, Hallen A, Dahl N. (Incontinentia pigmenti. A rare disease with many symptoms). Lakartidningen 2002; 99:1345–1350.PubMedGoogle Scholar
  92. 92.
    Yoshikawa H, Uehara Y, Abe T, Oda Y. Disappearance of a white matter lesion in incontinentia pigmenti. Pediatr Neurol 2000; 23:364–367.PubMedCrossRefGoogle Scholar
  93. 93.
    McCallion AS, Chakravarti A. EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res 2001; 14:161–169.PubMedCrossRefGoogle Scholar
  94. 94.
    Naidich TP, Siatkowski RM, Mafee MF, Altman NR. Waardenburg syndrome type 2 with sensorineural hearing loss. Int J Neuroradiol 1996; 2:30–41.Google Scholar
  95. 95.
    da Silva EO. Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. Am J Med Genet 1991; 40:65–74.CrossRefGoogle Scholar
  96. 96.
    Lalwani AK, Brister JR, Fex J, Grundfast KM, Ploplis B, San Agustin TB, Wilcox ER. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. Am J Hum Genet 1995; 56:75–83.PubMedGoogle Scholar
  97. 97.
    Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993; 52:455–462.PubMedGoogle Scholar
  98. 98.
    Mansouri A, Pla P, Larue L, Gruss P. Pax3 acts cell autonomously in the neural tube and somites by controlling cell surface properties. Development 2001; 128:1995–2005.PubMedGoogle Scholar
  99. 99.
    Khong HT, Rosenberg SA. The Waardenburg Syndrome Type 4 Gene, SOX10, is a Novel Tumor-associated Antigen Identified in a Patient with a Dramatic Response to Immunotherapy. Cancer Res 2002; 62:3020–3023.PubMedGoogle Scholar
  100. 100.
    Shanske A, Ferreira JC, Leonard JC, Fuller P, Marion RW. Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 2001; 102:231–236.PubMedCrossRefGoogle Scholar
  101. 101.
    Matsushima Y, Shinkai Y, Kobayashi Y, Sakamoto M, Kunieda T, Tachibana M. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Mamm Genome 2002; 13:30–35.PubMedCrossRefGoogle Scholar
  102. 102.
    Hageman MJ, Delleman JW. Heterogeneity in Waardenburg syndrome. Am J Hum Genet 1977; 29:468–485.PubMedGoogle Scholar
  103. 103.
    Newton VE. Waardenburg’s syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. Scand Audiol 1989; 18:221–223.PubMedGoogle Scholar
  104. 104.
    Winship I, Beighton P. Phenotypic discriminants in the Waardenburg syndrome. Clin Genet 1992; 41:181–188.PubMedGoogle Scholar
  105. 105.
    Steel KP, Smith RJ. Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Nat Genet 1992; 2:75–79.PubMedCrossRefGoogle Scholar
  106. 106.
    Oysu C, Baserer N, Tinaz M. Audiometric manifestations of Waardenburg’s syndrome. Ear Nose Throat J 2000; 79:704–709.PubMedGoogle Scholar
  107. 107.
    Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otol 1959; 73:355–382.PubMedCrossRefGoogle Scholar
  108. 108.
    Nemansy J. Tomographic findings of the inner ears of 24 patients with Waardenburg’s. AJR Am J Roentgenol 1975;124:250–255.Google Scholar
  109. 109.
    Merchant SN, McKenna MJ, Baldwin CT, Milunsky A, Nadol JB Jr. Otopathology in a case of type I Waardenburg’s syndrome. Ann Otol Rhinol Laryngol 2001; 110:875–882.PubMedGoogle Scholar
  110. 110.
    Rarey KE, Davis LE. Inner ear anomalies in Waardenburg’s syndrome associated with Hirschsprung’s disease. Int J Pediatr Otorhinolaryngol 1984; 8:181–189.PubMedCrossRefGoogle Scholar
  111. 111.
    Black FO. A vestibular phenotype for Waardenburg syndrome? Otol Neurotol 2001; 22:188–194.PubMedCrossRefGoogle Scholar
  112. 112.
    Chatkupt S, Johnson WG. Waardenburg syndrome and myelomeningocele in a family. J Med Genet 1993; 30:83–84.PubMedCrossRefGoogle Scholar
  113. 113.
    Milunsky A, Jick H, Jick SS, Bruell CL, MacLaughlin DS, Rothman KJ, Willett W. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. Jama 1989; 262:2847–2852.PubMedCrossRefGoogle Scholar
  114. 114.
    Smithells RW, Sheppard S. Possible prevention of neuraltube defects by periconceptional vitamin supplementation. Lancet 1980; 1:339–340.PubMedCrossRefGoogle Scholar
  115. 115.
    Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet 1983; 14:231–239.PubMedCrossRefGoogle Scholar
  116. 116.
    Sheffer R, Zlotogora J. Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet 1992; 42:320–322.PubMedCrossRefGoogle Scholar
  117. 117.
    Marx PBJ. Un cas de syndrome de Waardenburg-Klein. Bull Soc Opthalmol 1963; 68:444–447.Google Scholar
  118. 118.
    Urschel HC Jr. Poland’s syndrome. Chest Surg Clin N Am 2000; 10:393–403.PubMedGoogle Scholar
  119. 119.
    Larrandaburu M, Schuler L, Ehlers JA, Reis AM, Silveira EL. The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of their genetic component. Clin Dysmorphol 1999; 8:93–99.PubMedGoogle Scholar
  120. 120.
    Ahmed MS, Nwoku AL. Maxillomandibular deformity in association with Poland anomaly. J Craniomaxillofac Surg 1997; 25:158–161.PubMedGoogle Scholar
  121. 121.
    Erdogan B, Akoz T, Gorgu M, Kutlay R, Dag F. Possibly new multiple congenital anomaly syndrome: cranio-frontonasal dysplasia with Poland anomaly. Am J Med Genet 1996; 65:222–225.PubMedCrossRefGoogle Scholar
  122. 122.
    Rattan KN, Budhiraja S, Pandit SK. Poland’s syndrome with meningomyelocele. Indian J Chest Dis Allied Sci 1996; 38:259–261.PubMedGoogle Scholar
  123. 123.
    Fryns JP, de Smet L. On the association of Poland anomaly and primary microcephaly. Clin Dysmorphol 1994; 3:347–350.PubMedCrossRefGoogle Scholar
  124. 124.
    Alembik Y, Stoll C. A boy with neurofibromatosis 1 and Poland anomaly. Genet Couns 1994; 5:167–170.PubMedGoogle Scholar
  125. 125.
    Pisteljic DT, Vranjesevic D, Apostolski S, Pisteljic DD. Poland syndrome associated with ‘morning glory’ syndrome (coloboma of the optic disc). J Med Genet 1986; 23:364–366.PubMedCrossRefGoogle Scholar
  126. 126.
    Cobben JM, van Essen AJ, McParland PC, Polman HA, ten Kate LP. A boy with Poland anomaly and facio-auriculo-vertebral dysplasia. Clin Genet 1992; 41:105–107.PubMedCrossRefGoogle Scholar
  127. 127.
    Higashi K, Matsuki C, Sarashina N. Aplasia of posterior semicircular canal in Waardenburg syndrome type II. J Otolaryngol 1992; 21:262–264.PubMedGoogle Scholar
  128. 128.
    Mafee MF, Selis JE, Yannias DA, Valvassori GE, Pruzansky S, Applebaum EL, Capek V. Congenital sensorineural hearing loss. Radiology 1984; 150:427–434.PubMedGoogle Scholar
  129. 129.
    Oysu C, Oysu A, Aslan I, Tinaz M. Temporal bone imaging findings in Waardenburg’s syndrome. Int J Pediatr Otorhinolaryngol 2001; 58:215–221.PubMedCrossRefGoogle Scholar
  130. 130.
    Akinwunmi J, Sgouros S, Moss C, Grundy R, Green S. Neurocutaneous melanosis with leptomeningeal melanoma. Pediatr Neurosurg 2001; 35:277–279.PubMedCrossRefGoogle Scholar
  131. 131.
    Schaffer JV, McNiff JM, Bolognia JL. Cerebral mass due to neurocutaneous melanosis: eight years later. Pediatr Dermatol 2001; 18:369–377.PubMedCrossRefGoogle Scholar
  132. 132.
    Wen WH. Neurocutaneous melanosis with epilepsy: report of one case. Acta Paediatr Taiwan 2001; 42:108–110.PubMedGoogle Scholar
  133. 133.
    Gondo K, Kira R, Tokunaga Y, Hara T. Age-related changes of the MR appearance of CNS involvement in neurocutaneous melanosis complex. Pediatr Radiol 2000; 30:866–868.PubMedCrossRefGoogle Scholar
  134. 134.
    Kadonaga JN, Frieden IJ. Neurocutaneous melanosis: definition and review of the literature. J Am Acad Dermatol 1991; 24:747–755.PubMedCrossRefGoogle Scholar
  135. 135.
    Vanzieleghem BD, Lemmerling MM, Van Coster RN. Neurocutaneous melanosis presenting with intracranial amelanotic melanoma. AJNR Am J Neuroradiol 1999; 20:457–460.PubMedGoogle Scholar
  136. 136.
    Takayama H, Nagashima Y, Hara M, Takagi H, Mori M, Merlino G, Nakazato Y. Immunohistochemical detection of the c-met proto-oncogene product in the congenital melano-cytic nevus of an infant with neurocutaneous melanosis. J Am Acad Dermatol 2001; 44:538–540.PubMedCrossRefGoogle Scholar
  137. 137.
    Cruz MA, Cho ES, Schwartz RA, Janniger CK. Congenital neurocutaneous melanosis. Cutis 1997; 60:178–181.PubMedGoogle Scholar
  138. 138.
    Vadoud-Seyedi R, Heenen M. Neurocutaneous melanosis. Dermatology 1994; 188:62–65.PubMedCrossRefGoogle Scholar
  139. 139.
    Tsui-Pierchala BA, Milbrandt J, Johnson EM Jr. NGF utilizes c-Ret via a novel GFL-independent, inter-RTK signaling mechanism to maintain the trophic status of mature sympathetic neurons. Neuron 2002; 33:261–273.PubMedCrossRefGoogle Scholar
  140. 140.
    Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987; 16:899–906.PubMedCrossRefGoogle Scholar
  141. 141.
    Sandsmark M, Eskeland G, Skullerud K, Abyholm F. Neurocutaneous melanosis. Case report and a brief review. Scand J Plast Reconstr Surg Hand Surg 1994; 28:151–154.PubMedCrossRefGoogle Scholar
  142. 142.
    Peters R, Jansen G, Engelbrecht V. Neurocutaneous melanosis with hydrocephalus, intraspinal arachnoid collections and syringomyelia: case report and literature review. Pediatr Radiol 2000; 30:284–288.PubMedCrossRefGoogle Scholar
  143. 143.
    Kimura H, Itoyama Y, Fujioka S, Ushio Y. Neurocutaneous melanosis with intracranial malignant melanoma in an adult: a case report. No Shinkei Geka 1997; 25:819–822.PubMedGoogle Scholar
  144. 144.
    DeDavid M, Orlow SJ, Provost N, Marghoob AA, Rao BK, Wasti Q, Huang CL, Kopf AW, Bart RS. Neurocutaneous melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis. J Am Acad Dermatol 1996; 35:529–538.PubMedCrossRefGoogle Scholar
  145. 145.
    Faillace WJ, Okawara SH, McDonald JV. Neurocutaneous melanosis with extensive intracerebral and spinal cord involvement. Report of two cases. J Neurosurg 1984; 61:782–785.PubMedCrossRefGoogle Scholar
  146. 146.
    Green LJ, Nanda VS, Roth GM, Barr RJ. Neurocutaneous melanosis and Dandy-Walker syndrome in an infant. Int J Dermatol 1997; 36:356–359.PubMedCrossRefGoogle Scholar
  147. 147.
    Chaloupka JC, Wolf RJ, Varma PK. Neurocutaneous melanosis with the Dandy-Walker malformation: a possible rare pathoetiologic association. Neuroradiology 1996; 38:486–489.PubMedCrossRefGoogle Scholar
  148. 148.
    Narayanan HS, Gandhi DH, Girimaji SR. Neurocutaneous melanosis associated with Dandy-Walker syndrome. Clin Neurol Neurosurg 1987; 89:197–200.PubMedCrossRefGoogle Scholar
  149. 149.
    Kasantikul V, Shuangshoti S, Pattanaruenglai A, Kaoroptham S. Intraspinal melanotic arachnoid cyst and lipoma in neurocutaneous melanosis. Surg Neurol 1989; 31:138–141.PubMedCrossRefGoogle Scholar
  150. 150.
    van Heuzen EP, Kaiser MC, de Slegte RG. Neurocutaneous melanosis associated with intraspinal lipoma. Neuroradiology 1989; 31:349–351.PubMedCrossRefGoogle Scholar
  151. 151.
    Azzoni A, Argentieri R, Raja M. Neurocutaneous melanosis and psychosis: a case report. Psychiatry Clin Neurosci 2001; 55:93–95.PubMedCrossRefGoogle Scholar
  152. 152.
    Foster RD, Williams ML, Barkovich AJ, Hoffman WY, Mathes SJ, Frieden IJ. Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children. Plast Reconstr Surg 2001; 107:933–941.PubMedCrossRefGoogle Scholar
  153. 153.
    Berker M, Oruckaptan HH, Oge HK, Benli K. Neurocutaneous melanosis associated with Dandy-Walker malformation. case report and review of the literature. Pediatr Neurosurg 2000; 33:270–273.PubMedCrossRefGoogle Scholar
  154. 154.
    Slaughter JC, Hardman JM, Kempe LG, Earle KM. Neurocutaneous melanosis and leptomeningeal melanomatosis in children. Arch Pathol 1969; 88:298–304.PubMedGoogle Scholar
  155. 155.
    Craver RD, Golladay SE, Warrier RP, Gates AJ, Nelson JS. Neurocutaneous melanosis with Dandy-Walker malformation complicated by primary spinal leptomeningeal melanoma. J Child Neurol 1996; 11:410–414.PubMedCrossRefGoogle Scholar
  156. 156.
    Ruiz-Maldonado R, del Rosario Barona-Mazuera M, Hidalgo-Galvan LR, Medina-Crespo V, Duran-Mckinster C, Tamayo-Sanchez L, Mora-Tizcareno MA, Zuloaga A, de la Luz Orozco-Covarrubias M. Giant congenital melanocytic nevi, neurocutaneous melanosis and neurological alterations. Dermatology 1997; 195:125–128.PubMedCrossRefGoogle Scholar
  157. 157.
    Kadonaga JN, Barkovich AJ, Edwards MS, Frieden IJ. Neurocutaneous melanosis in association with the Dandy-Walker complex. Pediatr Dermatol 1992; 9:37–43.PubMedCrossRefGoogle Scholar
  158. 158.
    Ko SF, Wang HS, Lui TN, Ng SH, Ho YS, Tsai CC. Neurocutaneous melanosis associated with inferior vermian hypoplasia: MR findings. J Comput Assist Tomogr 1993; 17:691–695.PubMedCrossRefGoogle Scholar
  159. 159.
    Gebarski SS, Blaivas MA. Imaging of normal leptomeningeal melanin. AJNR Am J Neuroradiol 1996; 17:55–60.PubMedGoogle Scholar
  160. 160.
    Byrd SE, Darling CF, Tomita T, Chou P, de Leon GA, Radkowski MA. MR imaging of symptomatic neurocutaneous melanosis in children. Pediatr Radiol 1997; 27:39–44.PubMedCrossRefGoogle Scholar
  161. 161.
    Rhodes RE, Friedman HS, Hatten HP Jr, Hockenberger B, Oakes WJ, Tomita T. Contrast-enhanced MR imaging of neurocutaneous melanosis. AJNR Am J Neuroradiol 1991; 12:380–382.PubMedGoogle Scholar
  162. 162.
    Demirci A, Kawamura Y, Sze G, Duncan C. MR of parenchymal neurocutaneous melanosis. AJNR Am J Neuroradiol 1995; 16:603–606.PubMedGoogle Scholar
  163. 163.
    Leung, G, Cheng PW, Leung SY, Ng THK, Fung CF, Chan FL. Nevus of Ota syndrome complicated by meningeal melanocytoma. Int J Neuroradiol 1998; 4:417–424.Google Scholar
  164. 164.
    Terheyden P, Rickert S, Kampgen E, Munnich S, Hofmann UB, Brocker EB, Becker JC. [Nevus of Ota and choroid melanoma]. Hautarzt 2001; 52:803–806.PubMedCrossRefGoogle Scholar
  165. 165.
    Hidano A, Kajima H, Ikeda S, Mizutani H, Miyasato H, Niimura M. Natural history of nevus of Ota. Arch Dermatol 1967; 95:187–195.PubMedCrossRefGoogle Scholar
  166. 166.
    Patel BC, Egan CA, Lucius RW, Gerwels JW, Mamalis N, Anderson RL. Cutaneous malignant melanoma and oculodermal melanocytosis (nevus of Ota): report of a case and review of the literature. J Am Acad Dermatol 1998; 38:862–865.PubMedCrossRefGoogle Scholar
  167. 167.
    Arif NN, Henkind P. Ophthalmologic oncology: nevus of ota. J Dermatol Surg Oncol 1979; 5:186–187.PubMedGoogle Scholar
  168. 168.
    Kopf A, Weidman AI. Naevus of Ota. Arch Dermatol 1962; 85:195–208.PubMedGoogle Scholar
  169. 169.
    Balmaceda CM, Fetell MR, O’Brien JL, Housepian EH. Nevus of Ota and leptomeningeal melanocytic lesions. Neurology 1993; 43:381–386.PubMedGoogle Scholar
  170. 170.
    Teekhasaenee C, Ritch R, Rutnin U, Leelawongs N. Ocular findings in oculodermal melanocytosis. Arch Ophthalmol 1990; 108:1114–1120.PubMedGoogle Scholar
  171. 171.
    Arunkumar MJ, Ranjan A, Jacob M, Rajshekhar V. Neurocutaneous melanosis: a case of primary intracranial melanoma with metastasis. Clin Oncol 2001; 13:52–54.Google Scholar
  172. 172.
    Sang D, Albert DM, Sober AJ, McMeekin TO. Nevus of Ota with contralateral cerebral melanoma. Arch Ophthalmol 1977; 95:1820–1824.PubMedGoogle Scholar
  173. 173.
    Privat Y, Rousselot M, Faye I, Bellossi A, Ancelle G. Bilateral Ota’s nevus with exclusively ocular localization and associated with spino-cerebellar degeneration syndrome. Bull Soc Fr Dermatol Syphiligr 1968; 75:213–215.PubMedGoogle Scholar
  174. 174.
    Noriega-Sanchez A, Markand ON, Herndon JH. Oculocutaneous melanosis associated with the Sturge-Weber syndrome. Neurology 1972; 22:256–262.PubMedGoogle Scholar
  175. 175.
    Furukawa T, Igata A, Toyokura Y. Ikeda S: Sturge-Weber and Klippel-Trenaunay syndrome with nevus of ota and ito. Arch Dermatol 1970; 102:640–645.PubMedCrossRefGoogle Scholar
  176. 176.
    Lee H. A case of glaucoma associated with Sturge-Weber syndrome and Nevus of Ota. Korean J Ophthalmol 2001; 15:48–53.PubMedGoogle Scholar
  177. 177.
    Celebi S, Alagoz G, Aykan U. Ocular findings in Sturge-Weber syndrome. Eur J Ophthalmol 2000; 10:239–243.PubMedGoogle Scholar
  178. 178.
    Recupero SM, Abdolrahimzadeh S, De Dominicis M, Mollo R. Sturge-Weber syndrome associated with naevus of Ota. Eye 1998; 12:212–213.PubMedGoogle Scholar
  179. 179.
    Teekhasaenee C, Ritch R, Rutnin U, Leelawongs N. Glaucoma in oculodermal melanocytosis. Ophthalmology 1990; 97:562–570.PubMedGoogle Scholar
  180. 180.
    Uematsu Y, Yukawa S, Yokote H, Itakura T, Hayashi S, Komai N. Meningeal melanocytoma: magnetic resonance imaging characteristics and pathological features. Case report. J Neurosurg 1992; 76:705–709.PubMedCrossRefGoogle Scholar
  181. 181.
    Atlas SW, Grossman RI, Gomori JM, Guerry D, Hackney DB, Goldberg HI, Zimmerman RA, Bilaniuk LT. MR imaging of intracranial metastatic melanoma. J Comput Assist Tomogr 1987; 11:577–582.PubMedCrossRefGoogle Scholar
  182. 182.
    Litofsky NS, Zee CS, Breeze RE, Chandrasoma PT. Meningeal melanocytoma: diagnostic criteria for a rare lesion. Neurosurgery 1992; 31:945–948.PubMedCrossRefGoogle Scholar
  183. 183.
    Naul LG, Hise JH, Bauserman SC, Todd FD. CT and MR of meningeal melanocytoma. AJNR Am J Neuroradiol 1991; 12:315–316.PubMedGoogle Scholar
  184. 184.
    Albright FBA, Hampton AO, Smith P. Syndrome characterised by osteitis fibrosa disseminata, areas of pigmentation, and endocrine dysfunction, with precocious puberty in females: Report of five cases. N Engl J Med 1937; 216:727–747.CrossRefGoogle Scholar
  185. 185.
    Heller AJ, DiNardo LJ, Massey D. Fibrous dysplasia, chondrosarcoma, and McCune-Albright syndrome. Am J Otolaryngol 2001; 22:297–301.PubMedCrossRefGoogle Scholar
  186. 186.
    Kim IS, Kim ER, Nam HJ, Chin MO, Moon YH, Oh MR, Yeo UC, Song SM, Kim JS, Uhm MR, Beck NS, Jin DK. Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes. Horm Res 1999; 52:235–240.PubMedCrossRefGoogle Scholar
  187. 187.
    Tinschert S, Gerl H, Gewies A, Jung HP, Nurnberg P. McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. Am J Med Genet 1999; 83:100–108.PubMedCrossRefGoogle Scholar
  188. 188.
    Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. Jama 1986; 256:2980–2984.PubMedCrossRefGoogle Scholar
  189. 189.
    Zumkeller W, Jassoy A, Lebek S, Nagel M. Clinical, endocrinological and radiography features in a child with McCune-Albright syndrome and pituitary adenoma. J Pediatr Endocrinol Metab 2001; 14:553–559.PubMedGoogle Scholar
  190. 190.
    Sakamoto A, Oda Y, Iwamoto Y, Tsuneyoshi M. A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gsalpha mutation at the Arg201 codon: polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues. J Mol Diagn 2000; 2:67–72.PubMedGoogle Scholar
  191. 191.
    Aldred MA, Trembath RC. Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 2000; 16:183–189.PubMedCrossRefGoogle Scholar
  192. 192.
    Levine MA. Clinical implications of genetic defects in G proteins: oncogenic mutations in G alpha s as the molecular basis for the McCune-Albright syndrome. Arch Med Res 1999; 30:522–531.PubMedCrossRefGoogle Scholar
  193. 193.
    Gurler T, Alper M, Gencosmanoglu R, Totan S, Guner U, Akin Y. McCune-Albright syndrome progressing with severe fibrous dysplasia. J Craniofac Surg 1998; 9:79–82.PubMedCrossRefGoogle Scholar
  194. 194.
    Uzun C, Adali MK, Koten M, Karasalihoglu AR. McCune-Albright syndrome with fibrous dysplasia of the paranasal sinuses. Rhinology 1999; 37:122–124.PubMedGoogle Scholar
  195. 195.
    Pereira MA, Halpern A, Salgado LR, Mendonca BB, Nery M, Liberman B, Streeten DH, Wajchenberg BL. A study of patients with Nelson’s syndrome. Clin Endocrinol 1998; 49:533–539.CrossRefGoogle Scholar
  196. 196.
    Karl M, Von Wichert G, Kempter E, Katz DA, Reincke M, Monig H, Ali IU, Stratakis CA, Oldfield EH, Chrousos GP, Schulte HM. Nelson’s syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene. J Clin Endocrinol Metab 1996; 81:124–129.PubMedCrossRefGoogle Scholar
  197. 197.
    Ullrich I, Lizzaralde G. Nelson’s syndrome: case report and review of the literature. South Med J 1977; 70:1444–1446.PubMedGoogle Scholar
  198. 198.
    Kemink SA, Grotenhuis JA, De Vries J, Pieters GF, Hermus AR, Smals AG. Management of Nelson’s syndrome: observations in fifteen patients. Clin Endocrinol 2001; 54:45–52.CrossRefGoogle Scholar
  199. 199.
    Kasperlik-Zaluska AA, Walecki J, Jeske W, Migdalska B, Janik J, Bonicki W, Brzezinski J, Makowska A, Brzezinska A. Early diagnosis of Nelson’s syndrome. J Mol Neurosci 1996; 7:87–90.PubMedCrossRefGoogle Scholar
  200. 200.
    Thomas C, Smith AT, Benson MB, Griffith J. Nelson’s Syndrome After Cushing’s Disease in Childhood:A Continuing Problem. Surgery 1984; 96:1067–1077.PubMedGoogle Scholar
  201. 201.
    Kasperlik-Zaluska A, Walecki J, Brzezinski J, Jeske W, Migdalska B, Bonicki W, Brzezinska A, Makowska A. MRI versus CT in the diagnosis of Nelson’s syndrome. Eur Radiol 1997; 7:106–109.PubMedCrossRefGoogle Scholar
  202. 202.
    Hopwood N, Kenny FM. Incidence of Nelson’s syndrome after adrenalectomy for Cushing’s disease in children: results of a nationwide study. Am J Dis Child 1977; 131:1353–1356.PubMedGoogle Scholar
  203. 203.
    Fehn M, Farquharson MA, Sautner D, Saeger W, Ludecke DK, McNicol AM. Demonstration of pro-opiomelanocortin mRNA in pituitary adenomas and para-adenomatous gland in Cushing’s disease and Nelson’s syndrome. J Pathol 1993; 169:335–339.PubMedCrossRefGoogle Scholar
  204. 204.
    Moyer G, Terezhalmy GT, O’Brian JT. Nelson’s syndrome: another condition associated with mucocutaneous hyperpigmentation. J Oral Med 1985; 40:13–17.PubMedGoogle Scholar
  205. 205.
    Wolffenbuttel BH, Kitz K, Beuls EM. Beneficial gammaknife radiosurgery in a patient with Nelson’s syndrome. Clin Neurol Neurosurg 1998; 100:60–63.PubMedCrossRefGoogle Scholar
  206. 206.
    Kemink SA, Wesseling P, Pieters GF, Verhofstad AA, Hermus AR, Smals AG. Progression of a Nelson’s adenoma to pituitary carcinoma; a case report and review of the literature. J Endocrinol Invest 1999; 22:70–75.PubMedGoogle Scholar
  207. 207.
    Sett PK, Crockard HA, Powell M, Lightman S, Jacobs H. Cavernous sinus involvement in recurrent Nelson’s syndrome. Acta Neurochir 1990; 104:69–72.CrossRefGoogle Scholar
  208. 208.
    Eustace S, Buff B, Ecklund K, Degirolami U, Fischer EG. MRI of infarction of a cavernous sinus tumor in Nelson’s syndrome. Neuroradiology 1996; 38:47–49.PubMedCrossRefGoogle Scholar
  209. 209.
    Esteban F, Ruiz-Avila I, Vilchez R, Gamero C, Gomez M, Mochon A. Ectopic pituitary adenoma in the sphenoid causing Nelson’s syndrome. J Laryngol Otol 1997; 111:565–567.PubMedCrossRefGoogle Scholar
  210. 210.
    Gorlin R, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960; 262:908–912.PubMedCrossRefGoogle Scholar
  211. 211.
    Gorlin RJ. Nevoid basal cell carcinoma syndrome. Dermatol Clin 1995; 13:113–125.PubMedGoogle Scholar
  212. 212.
    Mosskin M, Blaser S, Becker L, Krafchik B. Nevoid basal cell carcinoma syndrome. Int J Neuroradiol 1996; 2:480–488.Google Scholar
  213. 213.
    Zedan W, Robinson PA, Markham AF, High AS. Expression of the Sonic Hedgehog receptor “PATCHED” in basal cell carcinomas and odontogenic keratocysts. J Pathol 2001; 194:473–477.PubMedCrossRefGoogle Scholar
  214. 214.
    Epstein E Jr. Genetic determinants of basal cell carcinoma risk. Med Pediatr Oncol 2001; 36:555–558.PubMedCrossRefGoogle Scholar
  215. 215.
    Cohen MM Jr. Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg 1999; 28:216–223.PubMedCrossRefGoogle Scholar
  216. 216.
    Bale AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet 2001; 10:757–762.PubMedCrossRefGoogle Scholar
  217. 217.
    Wicking C, Smyth I, Bale A. The hedgehog signalling pathway in tumorigenesis and development. Oncogene 1999; 18:7844–7851.PubMedCrossRefGoogle Scholar
  218. 218.
    Booth DR. The hedgehog signalling pathway and its role in basal cell carcinoma. Cancer Metastasis Rev 1999; 18:261–284.PubMedCrossRefGoogle Scholar
  219. 219.
    Stavrou T, Dubovsky EC, Reaman GH, Goldstein AM, Vezina G. Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome. AJNR Am J Neuroradiol 2000; 21:790–794.PubMedGoogle Scholar
  220. 220.
    Honavar SG, Shields JA, Shields CL, Eagle RC Jr, Demirci H, Mahmood EZ. Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome. Ophthalmology 2001; 108:1115–1123.PubMedCrossRefGoogle Scholar
  221. 221.
    Barreto DC, Gomez RS, Bale AE, Boson WL, De Marco L. PTCH gene mutations in odontogenic keratocysts. J Dent Res 2000; 79:1418–1422.PubMedCrossRefGoogle Scholar
  222. 222.
    Zvulunov A, Strother D, Zirbel G, Rabinowitz LG, Esterly NB. Nevoid basal cell carcinoma syndrome. Report of a case with associated Hodgkin’s disease. J Pediatr Hematol Oncol 1995; 17:66–70.PubMedCrossRefGoogle Scholar
  223. 223.
    Schulz-Butulis BA, Gilson R, Farley M, Keeling JH. Nevoid basal cell carcinoma syndrome and non-Hodgkin’s lymphoma. Cutis 2000; 66:35–38.PubMedGoogle Scholar
  224. 224.
    Shields JA, Shields CL, Eagle RC Jr, Arevalo JF, DePotter P. Ocular manifestations of the organoid nevus syndrome. Ophthalmology 1997; 104:549–557.PubMedGoogle Scholar
  225. 225.
    van de Warrenburg BP, van Gulik S, Renier WO, Lammens M, Doelman JC. The linear naevus sebaceus syndrome. Clin Neurol Neurosurg 1998; 100:126–132.PubMedCrossRefGoogle Scholar
  226. 226.
    Hamm H. Cutaneous mosaicism of lethal mutations. Am J Med Genet 1999; 85:342–345.PubMedCrossRefGoogle Scholar
  227. 227.
    Schworm HD, Jedele KB, Holinski E, Hortnagel K, Rudolph G, Boergen KP, Kampik A, Meitinger T. Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome. Clin Genet 1996; 50:393–397.PubMedCrossRefGoogle Scholar
  228. 228.
    Clancy RR, Kurtz MB, Baker D, Sladky JT, Honig PJ, Younkin DP. Neurologic manifestations of the organoid nevus syndrome. Arch Neurol 1985; 42:236–240.PubMedGoogle Scholar
  229. 229.
    Brodsky MC, Kincannon JM, Nelson-Adesokan P, Brown HH. Oculocerebral dysgenesis in the linear nevus sebaceous syndrome. Ophthalmology 1997; 104:497–503.PubMedGoogle Scholar
  230. 230.
    Traboulsi EI, Zin A, Massicotte SJ, Kosmorsky G, Kotagal P, Ellis FD. Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn). Ophthalmology 1999; 106:2126–2130.PubMedCrossRefGoogle Scholar
  231. 231.
    Yu KC, Lalwani AK. Inner ear malformations and hearing loss in linear nevus sebaceous syndrome. Int J Pediatr Otorhinolaryngol 2000; 56:211–216.PubMedCrossRefGoogle Scholar
  232. 232.
    Moss C. Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet 1999; 85:330–333.PubMedCrossRefGoogle Scholar
  233. 233.
    Lhermitte J, Duclos P. Sur un ganglioneurome diffuse du cortex du cervelet. Bull Assoc Franc Cancer 1920; 9:99–107.Google Scholar
  234. 234.
    Kleihues P, Cavenee WK (eds) Pathology and Geneticsof Tumours of the Nervous System. WHO Classification of Tumours. Lyon: IARC Press; 2000:235–237.Google Scholar
  235. 235.
    Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 2002; 23:1074–1087.PubMedGoogle Scholar
  236. 236.
    Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt KJ. Congenital Malformations of the Brain. Pathological, Embryological, Clinical, Radiological and Genetic Aspects. New York: Oxford University Press, 1995.Google Scholar
  237. 237.
    Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol 1991; 29:517–523.PubMedCrossRefGoogle Scholar
  238. 238.
    Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C. Localization of the gene for Cowden disease to chromosome 10q22–23. Nat Genet 1996; 13:114–116.PubMedCrossRefGoogle Scholar
  239. 239.
    Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery 2000; 46:371–383.PubMedCrossRefGoogle Scholar
  240. 240.
    Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand 2002; 105:137–145.PubMedCrossRefGoogle Scholar
  241. 241.
    Koch R, Scholz M, Nelen MR, Schwechheimer K, Epplen JT, Harders AG. Lhermitte-Duclos disease as a component of Cowden’s syndrome. Case report and review of the literature. J Neurosurg 1999; 90:776–779.PubMedCrossRefGoogle Scholar
  242. 242.
    Vantomme N, Van Calenbergh F, Goffin J, Sciot R, Demaerel P, Plets C. Lhermitte-Duclos disease is a clinical manifestation of Cowden’s syndrome. Surg Neurol 2001; 56:201–204.PubMedCrossRefGoogle Scholar
  243. 243.
    Kulkantrakorn K, Awwad EE, Levy B, Selhorst JB, Cole HO, Leake D, Gussler JR, Epstein AD, Malik MM. MRI in Lhermitte-Duclos disease. Neurology 1997; 48:725–731.PubMedGoogle Scholar
  244. 244.
    Roessmann U, Wongmongkolrit T. Dysplastic gangliocytoma of cerebellum in a newborn. Case report. J Neurosurg 1984; 60:845–847.PubMedCrossRefGoogle Scholar
  245. 245.
    Friede RL. Developmental Neuropathology, 2nd edn. Berlin: Springer, 1989:347–386.Google Scholar
  246. 246.
    Vieco PT, del Carpio-O’Donovan R, Melanson D, Montes J, O’Gorman AM, Meagher-Villemure K. Dysplastic gangliocytoma (Lhermitte-Duclos disease): CT and MR imaging. Pediatr Radiol 1992; 22:366–369.PubMedCrossRefGoogle Scholar
  247. 247.
    Meltzer CC, Smirniotopoulos JG, Jones RV. The striated cerebellum: an MR imaging sign in Lhermitte-Duclos disease (dysplastic gangliocytoma). Radiology 1995; 194:699–703.PubMedGoogle Scholar
  248. 248.
    Awwad EE, Levy E, Martin DS, Merenda GO. Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol 1995; 16:1719–1720.PubMedGoogle Scholar
  249. 249.
    Klisch J, Juengling F, Spreer J, Koch D, Thiel T, Buchert M, Arnold S, Feuerhake F, Schumacher M. Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy. AJNR Am J Neuroradiol 2001; 22:824–830.PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2005

Authors and Affiliations

  • Simon Edelstein
    • 1
  • Thomas P. Naidich
    • 2
  • T. Hans Newton
    • 3
  1. 1.Diagnostic and Interventional Neuroradiology, Head and Neck Radiology, Advanced Clinical NeuroimagingThe Mount Sinai School of MedicineNew YorkUSA
  2. 2.Department of Radiology (Neuroradiology)The Mount Sinai School of MedicineNew YorkUSA
  3. 3.The Moffitt HospitalUniversity of California at San FranciscoSan FranciscoUSA

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