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Neurokutane Syndrome

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Literatur

  • Barak Y, Nir E (1987) Chediak-Higashi syndrome. Am J Pediatr Hematol Oncol 9: 42–55

    PubMed  CAS  Google Scholar 

  • Belohradsky BH, Laminger B (1992) Das Chediak-Higashi Syndrom. Ergeb Inn Med Kinderheilkd 60: 151–240

    PubMed  CAS  Google Scholar 

  • Braffman BH, Bilaniuk LT, Zimmerman RA (1988) The central nervous system manifestation of the phakomatoses on MR. Imaging in Neuroradiology, Radiologic Clinics of North America 26: 773–800

    CAS  Google Scholar 

  • Carray SM, Gardella JE (1979) Hermansky-Pudlak syndrome: pulmonary manifestation of a ceroid storage disease. Am J Med 66: 737–747

    Google Scholar 

  • Carney RG (1976) Incontinentia pigmenti — A world statistical analysis. Arch Derm 112: 535–542

    Article  PubMed  CAS  Google Scholar 

  • Guo H, Tong J, Hannan F et al. (2000) A neurofibromatosis — 1-regulated pathway is required for learning in Drosophila. Nature 403: 895–898

    PubMed  CAS  Google Scholar 

  • Curatolo P, Verdeccia M, Bombardieri R (2001) Vigabatrin for tuberous sclerosis complex. Brain and Development 23: 649–653

    PubMed  CAS  Google Scholar 

  • Depinho RA, Kaplan KL (1985) The Hermansky-Pudlak syndrome: report of three cases and review of pathophysiology and management considerations. Medicine 64: 192–202

    PubMed  CAS  Google Scholar 

  • Donnai D, Read AP, McKeown C, Andrews T (1988) Hypomelanosis of Ito: a manifestation og mosaicism or chimerism. J Med Genet 25: 809–818

    PubMed  CAS  Google Scholar 

  • Gomez MR (ed) (1988) Tuberous Sclerosis. 2nd edn. Raven, New York

    Google Scholar 

  • Happle R (1985) Lyonization and the lines of Blaschko. Hum Genet 75: 200–206

    Google Scholar 

  • Hermansky F, Pudlak P (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14: 162–169

    PubMed  CAS  Google Scholar 

  • Huson SM, Hughes RAC (1993) The Neurofibromatoses. Chapman & Hall, London

    Google Scholar 

  • Jambaque I, Cusmai R, Curatolo P, Cortesi F, Perrot C, Dulac O (1991) Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MR findings. Dev Med Child Neurol 33: 698–705

    PubMed  CAS  Google Scholar 

  • Johnson WG, Gomez MR (ed) (1991) Tuberous Sclerosis and Allied Disorders. Ann New York Acad Sciences 615, New York

    Google Scholar 

  • Landy SJ, Donnai D (1993) Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Gen 30: 53–59

    Article  CAS  Google Scholar 

  • Lenz S (1975) Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Gen 27: 690

    CAS  Google Scholar 

  • Lockman JA, Kennedy WR, White JG (1967) The Chediak — Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 70: 942–951

    PubMed  CAS  Google Scholar 

  • Loomis CA (1997) Linear hypopigmentation and hyperpigmentation, including mosaicism. Sem Cutaneous Med Surg 16: 44–53

    CAS  Google Scholar 

  • Lubs MLE, Bauer MS, Formas ME, Djokic B (1991) Lisch nodules in neurofibromatoooosis type I. NEJM 25: 1264–1266

    Google Scholar 

  • Moss C, Larkins S, Stacey M, Blight A, Farndorn PA, Davison EV (1993) Epidermal mosaicism and Blaschko’s lines. J Med Genet 30: 752–755

    Article  PubMed  CAS  Google Scholar 

  • Pascual-Castroviejo I, Roche MC, Fernandez VM, Perez-Romero M, Escudero RM, Garcia-Penas JJ, Sanchez M (1994) Incontinentia Pigmenti: MR Demonstration of Brain Changes. A J N 15: 1521–1527

    CAS  Google Scholar 

  • Ponder B (1990) Neurofibromatosis gene cloned. Nature 346: 703–704

    Article  PubMed  CAS  Google Scholar 

  • Pettit RE, Berdal KG (1984) Chediak — Higashi syndrome: Neurologic appearance. Arch Neurol 41: 1001–1009

    PubMed  CAS  Google Scholar 

  • Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L (1992) Diagnostic Criteria: Tuberous Sclerosis Complex. J Child Neurol 7: 221–224

    PubMed  CAS  Google Scholar 

  • Rott HD, Bassl V, Hammersen G (1994) Klinik und Genetik des Ito-Syndroms. Monatsschr Kinderheilkd 142: 396–401

    Google Scholar 

  • Schallreuter KU, Wood JM (1989) Free radical reduction in human epidermis. Free Radical Biol Med 6: 519–532

    Article  CAS  Google Scholar 

  • Smahi A, Courtois G, Hadj Rabia S, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israel A (2002) The NF-κB signaling pathway in human disease: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Human Molecular Genetics 11: 2371–2375

    Article  PubMed  CAS  Google Scholar 

  • Tong J, Hannant F, Zhu Y, Bernards A, Zhong Y (2002) Neurofibromin regulates G protein — stimulated adenylyl cyclase activity. Nat Neurosci 5: 95–96

    Article  PubMed  CAS  Google Scholar 

  • Van Hale P (1987) Chediak — Higashi syndrome. In: Gomez MR (ed) Neurocutaneous diseases, 1st edn. Butterworth, Boston, pp 209–213

    Google Scholar 

  • Vehring KH, Kurlemann G, Traupe H, Bonsmann G, Gerding H, Möllmann S, Hamm H (1993) Incontinentia pigmenti bei einem männlichen Säugling. Hautarzt 44: 726–730

    PubMed  CAS  Google Scholar 

  • Williams DW, Elster AD (1990) Cranial MR Imaging in Hypomelanosis of Ito. J Comp Ass Tomog 14: 981–983

    Google Scholar 

  • Witkop CJ, Quevedo WC, Fitzpatrick TB, King RA (1993) Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (ed) The metabolic basis of inherited disease, 7th edn. McGraw Hill, New York, pp 2905–2949

    Google Scholar 

  • Zimmerhackl LB, Rehm M, Kaufmehl K, Kurlemann G, Brandis M (1994) Renal involvement in tuberous sclerosis complex: a retrospective survey. Ped Nephrol 8: 451–457

    Article  CAS  Google Scholar 

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© 2006 Springer Medizin Verlag Heidelberg

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Kurlemann, G. (2006). Neurokutane Syndrome. In: Pädiatrische Dermatologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-31259-5_6

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  • DOI: https://doi.org/10.1007/3-540-31259-5_6

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-25646-5

  • Online ISBN: 978-3-540-31259-8

  • eBook Packages: Medicine (German Language)

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