NHS Logo

Neurocutaneous Disorders (Record no. 101877)

MARC details
000 -LEADER
fixed length control field 06087nam a22005175i 4500
001 - CONTROL NUMBER
control field 978-3-030-87893-1
003 - CONTROL NUMBER IDENTIFIER
control field DE-He213
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20240729134702.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr nn 008mamaa
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 220203s2022 sz | s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9783030878931
-- 978-3-030-87893-1
072 #7 - SUBJECT CATEGORY CODE
Subject category code MJN
Source bicssc
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED056000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MKJ
Source thema
245 10 - TITLE STATEMENT
Title Neurocutaneous Disorders
Subtitle : A Clinical, Diagnostic and Therapeutic Approach /
250 ## - EDITION
Edition statement 3rd ed. 2022.
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture Cham :
Name of producer, publisher, distributor, manufacturer Springer International Publishing :
-- Imprint: Springer,
Date of production, publication, distribution, manufacture, or copyright notice 2022.
300 ## - PHYSICAL DESCRIPTION
Physical description XXIII, 550 p. 135 illus., 118 illus. in color.
Other physical details online resource.
336 ## - CONTENT TYPE
Content type term text
Content type code txt
Source rdacontent
337 ## - MEDIA TYPE
Media type term computer
Media type code c
Source rdamedia
338 ## - CARRIER TYPE
Carrier type term online resource
Carrier type code cr
Source rdacarrier
505 0# - CONTENTS
Contents 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 (Gm̤ez-Lp̤ez-Hernǹdez 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. Chďiak-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. Sjg̲ren-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 ## - ABSTRACT
Abstract 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.
650 #0 - SUBJECT HEADINGS
Subject term Neurology .
650 #0 - SUBJECT HEADINGS
Subject term Pediatrics.
650 #0 - SUBJECT HEADINGS
Subject term Ophthalmology.
650 #0 - SUBJECT HEADINGS
Subject term Dermatology.
9 (RLIN) 5856
650 #0 - SUBJECT HEADINGS
Subject term Radiology.
650 14 - SUBJECT HEADINGS
Subject term Neurology.
650 24 - SUBJECT HEADINGS
Subject term Pediatrics.
650 24 - SUBJECT HEADINGS
Subject term Ophthalmology.
650 24 - SUBJECT HEADINGS
Subject term Dermatology.
9 (RLIN) 5856
650 24 - SUBJECT HEADINGS
Subject term Radiology.
700 1# - ADDED PERSONAL NAME
Added personal author Panteliadis, Christos P.
Relator term editor.
700 1# - ADDED PERSONAL NAME
Added personal author Benjamin, Ramsis.
Relator term editor.
700 1# - ADDED PERSONAL NAME
Added personal author Hagel, Christian.
Relator term editor.
710 2# - ADDED CORPORATE NAME
Added corporate author SpringerLink (Online service)
856 ## - ONLINE RESOURCE
Uniform Resource Identifier <a href="#gotoholdings">#gotoholdings</a>
Link text Access resource
245 ## - TITLE STATEMENT
Medium [E-Book]
347 ## - DIGITAL FILE CHARACTERISTICS
File type text file
Encoding format PDF
Source rda
912 ## -
-- ZDB-2-SME
912 ## -
-- ZDB-2-SXM
Holdings
Withdrawn status Lost status Damaged status Not for loan Home library Current library Shelving location Date acquired Source of acquisition Total Checkouts Date last seen Uniform Resource Identifier Price effective from Koha item type
        Hillingdon Hospitals Library Services (Hillingdon Hospitals NHS Foundation) Hillingdon Hospitals Library Services (Hillingdon Hospitals NHS Foundation) Online 02/05/2024 Springer BiomedLifeSc   02/05/2024 https://go.openathens.net/redirector/nhs?url=https://doi.org/10.1007/978-3-030-87893-1 02/05/2024 Electronic book
London Health Libraries Consortium Privacy notice and Membership terms and conditions