BookChristos P. Panteliadis, Ramsis Benjamin, Christian Hagel, editors.
Summary: 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 books fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.
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 (Gomez-Lopez-Hernandez 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. Chediak-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. Sjogren-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.