Neurocutaneous Disorders
portes grátis
Neurocutaneous Disorders
A Clinical, Diagnostic and Therapeutic Approach
Hagel, Christian; Benjamin, Ramsis; Panteliadis, Christos P.
Springer Nature Switzerland AG
02/2022
550
Dura
Inglês
9783030878924
15 a 20 dias
1185
Descrição não disponível.
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. Sjoegren-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.
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Neurocutaneous Disorders;Hereditary disease;Clinical managemen;Skin alterations;Neural crest;Developmental malformations;Tumour suppressor;DNA-repair disorders;Defects of enzymes;Structural proteins
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. Sjoegren-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.
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