Neurocutaneous Syndromes


Tuberous sclerosis (TS) is a dominantly inherited disorder that affects multiple organ systems [1]–[3]. The current diagnostic criteria require TS complex-associated lesions of two or more organ systems or two dissimilar lesions of the same organ system. TS is sporadic in 60%–70% of cases. Two genes have been identified: TSC1 (hamartin) located at 9q34 and TSC2 (tuberin) located at 16p13.3 [4]. The genes have tumor-suppressing activity, but the pathogenesis of TS is not fully understood.


Tuberous Sclerosis Tuberous Sclerosis Complex Malignant Peripheral Nerve Sheath Tumor Telangiectasia Ataxia Ataxia Telangiectasia 
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7 Neurocutaneous Syndromes

  1. 1.
    Maria BL, Deidrick KM, Roach ES, Gutmann DH (2004) Tuberous sclerosis complex. J Child Neurol 19:632–642.PubMedGoogle Scholar
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    Harding BN, Copp AJ (2001) Malformations. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 452–456.Google Scholar
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    Mizuguchi M, Takashima S (2001) Neuropathology of tuberous sclerosis. Brain Dev 23:508–515.PubMedCrossRefGoogle Scholar
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    Mizuguchi M, Kato M, Yamanouchi H, Ikeda K, Takashima S (1997) Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Ann Neurol 42:270–272.CrossRefGoogle Scholar
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    Gutmann DH (2002) Neurofibromin in the brain. J Child Neurol 17:592–601.PubMedGoogle Scholar
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    Thomas-Sohl KA, Vaslow DF, Maria BL (2004) Sturge-Weber syndrome: a review. Pediatr Neurol 30:303–310.PubMedCrossRefGoogle Scholar
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    Chun HH, Gatti RA (2004) Ataxia telangiectasia, an evolving phenotype. DNA Repair 3:1187–1196.PubMedCrossRefGoogle Scholar
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    Lowe JS, Leigh N (2001) In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 2. Arnold, London, pp 364–365.Google Scholar
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    Oka A, Takashima S (1998) Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development. Neurosci Lett 252:195–198.PubMedCrossRefGoogle Scholar

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