Neurocutaneous Disorders A Clinical, Diagnostic and Therapeutic Approach

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 so...

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Bibliographic Details
Other Authors: Panteliadis, Christos P. (Editor), Benjamin, Ramsis (Editor), Hagel, Christian (Editor)
Format: eBook
Language:English
Published: Cham Springer International Publishing 2022, 2022
Edition:3rd ed. 2022
Subjects:
Online Access:
Collection: Springer eBooks 2005- - Collection details see MPG.ReNa
Table of 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 (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