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220303 ||| eng |
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|a 9783030878931
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| 100 |
1 |
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|a Panteliadis, Christos P.
|e [editor]
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| 245 |
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|a Neurocutaneous Disorders
|h Elektronische Ressource
|b A Clinical, Diagnostic and Therapeutic Approach
|c edited by Christos P. Panteliadis, Ramsis Benjamin, Christian Hagel
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| 250 |
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|a 3rd ed. 2022
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| 260 |
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|a Cham
|b Springer International Publishing
|c 2022, 2022
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| 300 |
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|a XXIII, 550 p. 135 illus., 118 illus. in color
|b online resource
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| 505 |
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|a 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) --
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| 505 |
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|a 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 --
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| 505 |
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|a 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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| 653 |
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|a Neurology
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| 653 |
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|a Neurology
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| 653 |
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|a Radiology
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| 653 |
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|a Ophthalmology
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| 653 |
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|a Dermatology
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| 653 |
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|a Pediatrics
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| 700 |
1 |
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|a Benjamin, Ramsis
|e [editor]
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| 700 |
1 |
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|a Hagel, Christian
|e [editor]
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| 041 |
0 |
7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b Springer
|a Springer eBooks 2005-
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| 028 |
5 |
0 |
|a 10.1007/978-3-030-87893-1
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| 856 |
4 |
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|u https://doi.org/10.1007/978-3-030-87893-1?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
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|a 616.8
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| 520 |
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|a 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. The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease
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