000			05948nam a22004095i 4500
999			_c368773 _d368773 _x1
001			368773
003			ES-MaUEC
005			20230102121807.0
006			a||||fo|||| 00| 0
007			cr nn nnnaamaa
008			220203s2022 sz | s |||| 0|eng d
020			_a9783030878931
024	7		_a10.1007/978-3-030-87893-1 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRL100 _b2022 EB
245	0	0	_aNeurocutaneous Disorders : _bA Clinical, Diagnostic and Therapeutic Approach _cedited by Christos P. Panteliadis, Ramsis Benjamin, Christian Hagel
250			_aThird edition 2022
264		1	_aCham _bSpringer International Publishing _c2022
300			_a1 recurso en línea (XXIII, 550 páginas) _b135 ilustraciones, 118 ilustraciones a color
336			_2rdacontent _aTexto _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_aarchivo de texto _bPDF
505	0		_aPreface -- 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.
520			_aThis 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.
988			_aSpringer_Medicine_2022
650		7	_2embne _9168912 _aPiel _xEnfermedades
700	1		_aPanteliadis, Christos P. _eeditor literario
700	1		_aBenjamin, Ramsis _eeditor literario
700	1		_aHagel, Christian _eeditor literario
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-030-87893-1 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE _n0
998			_b04/2022 _dz _eu _zSI