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Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach by Chr
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Item specifics
- Condition
- ISBN-13
- 9783030878924
- Book Title
- Neurocutaneous Disorders
- ISBN
- 9783030878924
About this product
Product Identifiers
Publisher
Springer International Publishing A&G
ISBN-10
3030878929
ISBN-13
9783030878924
eBay Product ID (ePID)
28050427941
Product Key Features
Number of Pages
Xxiii, 550 Pages
Language
English
Publication Name
Neurocutaneous Disorders : a Clinical, Diagnostic and Therapeutic Approach
Publication Year
2022
Subject
Neurology, Pediatrics, Dermatology, Ophthalmology
Type
Textbook
Subject Area
Medical
Format
Hardcover
Dimensions
Item Weight
41.8 Oz
Item Length
9.3 in
Item Width
6.1 in
Additional Product Features
Edition Number
3
Dewey Edition
23
Number of Volumes
1 vol.
Illustrated
Yes
Original Language
English
Dewey Decimal
616.5
Table Of Content
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.
Synopsis
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.
LC Classification Number
RC346-429.2
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- r***r (2961)- Feedback left by buyer.Past 6 monthsVerified purchaseBook arrived today, 2 days before deadline given by the seller. Well-packaged & in good condition. Price was very competitive, & the book was accurately listed. Great communication. I appreciate the seller getting back to me when I was having trouble tracking the book's delivery progress. Apparently there were 2 different tracking numbers - one in Canada & the other in the U.S., since it was initially shipped from Canada. Thank you very much for your quick response & helpful information.Rethinking Investing: A Very Short Guide to Very Long-Term Investing by Charles (#396183075510)
- e***_ (15)- Feedback left by buyer.Past 6 monthsVerified purchaseSeller handles a massive inventory so I give them grace on the slow processing and shipping. They were very communicative and prompt with their response when I messaged in asking about it. Book was in good condition as described. Small ding on the page edges which wasn't mentioned, but that's fairly common even at your typical book store. Still a good value and I'd buy from them again.
- 0***i (5)- Feedback left by buyer.Past monthVerified purchaseThe first item arrived with some damage to the inside back cover, but the seller responded immediately, assuring me they’d provide a replacement, and even told me I could keep the original. They were upfront about a short delay, and gave a clear estimated ship date, and followed up right on time once it shipped. The replacement arrived in perfect condition and exactly as described. I really appreciated their transparency and professionalism. Would definitely buy from them again!
Seller Feedback (1,054,161)
- r***r (2961)- Feedback left by buyer.Past 6 monthsVerified purchaseBook arrived today, 2 days before deadline given by the seller. Well-packaged & in good condition. Price was very competitive, & the book was accurately listed. Great communication. I appreciate the seller getting back to me when I was having trouble tracking the book's delivery progress. Apparently there were 2 different tracking numbers - one in Canada & the other in the U.S., since it was initially shipped from Canada. Thank you very much for your quick response & helpful information.Rethinking Investing: A Very Short Guide to Very Long-Term Investing by Charles (#396183075510)
- e***_ (15)- Feedback left by buyer.Past 6 monthsVerified purchaseSeller handles a massive inventory so I give them grace on the slow processing and shipping. They were very communicative and prompt with their response when I messaged in asking about it. Book was in good condition as described. Small ding on the page edges which wasn't mentioned, but that's fairly common even at your typical book store. Still a good value and I'd buy from them again.
- 0***i (5)- Feedback left by buyer.Past monthVerified purchaseThe first item arrived with some damage to the inside back cover, but the seller responded immediately, assuring me they’d provide a replacement, and even told me I could keep the original. They were upfront about a short delay, and gave a clear estimated ship date, and followed up right on time once it shipped. The replacement arrived in perfect condition and exactly as described. I really appreciated their transparency and professionalism. Would definitely buy from them again!