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This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise.
Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders.
Prof. Dr. med. Christos P. Panteliadis. Medical education at Universities of Vienna (Austria) and Kiel (Germany). Training as pediatrician at the hospitals of Thessaloniki (Greece) and principal in St. Georg Hospital Hamburg (Germany). Specialisation in Neuropaediatrics in Frankfurt, Hamburg and other Medical Schools in Germany. Professor of Paediatrics, Paediatric Neurology and Developmental Medicine at Aristotle University, Thessaloniki, and Director of the 3rd Pediatric Department at Ippokraton Hospital Thessaloniki. Administrative work in the health system in northern Greece. Retired in 2010. Since then been active at a private clinic. Has organized several conferences, workshops, symposia and further education courses; Has established the Society of Paediatric Neurology in Greece and was the president of this society for many years, and president of Northgreece paediatricians. Is the author of several articles and textbooks for students and paediatricians, neuropaediatricians and neurologists in Greece, and in Editorial board of Medical journals. Has edited three editions of "Paediatric Neurology" in English; three editions of "Neuropaediatrie - Evidenzbasierte Therapie" in German; two editions of "Neurocutaneous Disorders - A Clinical, Diagnostic and Therapeutic Approach" in English; and three editions of "Cerebral Palsy - A Multidisciplinary Approach" in English.
Ramsis Benjamin, MD, MPH. Associate Clinical Professor at the University of Washington, in Seattle, and Associate Professor at Oregon Health and Science University, in Portland, Oregon, USA. Practices General Neurology, Adolescents and Adults, and Electrophysiology at Kootenai Health, Coeur d'Alene, Idaho.
Prof. Dr. med. Christian Hagel. Medical education at the University of Hamburg (Germany) and Newcastle upon Tyne (United Kingdom), Senior consultant of neuropathology at the Institute of Neuropathology, University of Hamburg Medical School, Head of the German Reference Centre of CSF-cytology for brain tumours in childhood. Research areas neuro-oncology, rare neurological diseases, vasculopathies.
Preface.- Introduction.- Part I: Aetiology and diagnostics of neurocutaneous disorders.- 1. Genetics of neurocutaneous syndromes.- 2. Superimposed mosaicism in neurocutaneous disorders.- 3. Neuro-Imaging in Neurocutaneous Disorders.- 4. Neuropathology of neurocutaneous disorders.- Part II: Developmental malformations.- 5. Sturge-Weber syndrome.- 6. Ataxia-Telangiectasia (Louis-Bar syndrome).- 7. Hypomelanosis of Ito (Incontinentia pigmenti achromians).- 8. Incontinentia pigmenti (Bloch-Sulzberger syndrome).- 9. Klippel-Trenaunay syndrome (Klippel-Trenaunay-Weber syndrome).- 10. Epidermal naevus syndrome and Linear naevus sebaceous syndrome.- 11. Neurocutaneous melanosis.- 12. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome.- 13. Cowden disease and Lhermitte-Duclos disease.- 14. Cutaneomeningospinal angiomatosis (Cobb syndrome).- 15. Cutis marmorata telangiectatica congenita (Van Lohuizen's syndrome).- 16. Encephalocraniocutaneous lipomatosis (Haberland syndrome).-17. LEOPARD syndrome (multiple lentigines; Lentiginosis profusa).- 18. MIDAS syndrome (Microphthalmia with linear skin defects).- 19. Oculocerebrocutaneous syndrome (Delleman syndrome).- 20. Oro-facio-digital syndrome.- 21. PHACE syndrome.- 22. Proteus syndrome.- 23. Wyburn-Manson syndrome.- 24. Cerebello-trigemino-dermal (Gómez-López-Hernández syndrome).- 25. Vascular tumours (haemangiomas).- Part III: Tumour suppressor/DNA-repair disorders.- 26.- Neurofibromatosis 1 and 2.- 27. Tuberous sclerosis (Bourneville disease).- 28. Angiomatosis of the Retina and the Cerebellum (von Hippel-Lindau disease).- 29. Naevoid basal cell carcinoma (GORLIN-GOLTZ syndrome).- 30. Cockayne syndrome.- 31. Xeroderma pigmentosum (Kaposi dermatosis).- Part IV: Defects of enzymes and structural proteins.- 32. Cerebrotendinous xanthromatosis.- 33. Chédiak-Higashi syndrome.- 34. CHILD syndrome.- 35. Dorfman - Chanarin syndrome.- 36. Ehlers-Danlos syndrome.- 37. Ichthyoses - Trichothiodystrophy - TAY syndrome.- 38. Rud syndrome.- 39. HID/KID syndrome.- 40. Hutchinson-Gilford progeria syndrome.- 41. Lipoid Proteinosis (Urbach-Wiethe syndrome).- 42. McCune-Albright disease.- 43. Menkes syndrome (Kinky hair disease; Tricholiodystrophy.- 44. Refsum disease (Heredopathis atactica polyneuritiformis.- 45. Sjögren-Larsson syndrome.- 46. Fabry disease.- Part V: Specific aspects in the management of neurocutaneous disorders.- 47. Ocular manifestations of neurocutaneous syndromes.- 48. Neurosurgical management of neurocutaneous disorders.- 49. Neurosurgery in infant's with TBC.- 50. Managing Epilepsy in Neurocutaneous Disorders.- 51. Orthopedic problems and therapy in neurocutaneous disorders.- 52. Improving quality of life in neurocutaneous disorders.
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