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Neurocutaneous disorders 1st Edition by ES Roach, Van S Miller ISBN 0521781531 9780521781534

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Author(s): E S Roach; Van S Miller
ISBN(s): 9780521781534, 0521781531
Edition: 1
File Details: PDF, 10.33 MB
Year: 2004
Language: english
SKU: EB-4061298 Category: Tags: ,

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ISBN 10: 0521781531 
ISBN 13: 9780521781534
Author: ES Roach, Van S Miller

The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians.

Neurocutaneous disorders 1st Table of contents:

1. Introduction

2. Genetics of Neurocutaneous Disorders

  • Introduction

  • Inheritance patterns

  • Types of mutations

  • Penetrance, expressivity, mosaicism, and genetic heterogeneity

  • Autosomal dominantly inherited neurocutaneous disorders

    • Single‑locus disorders

    • Genetic heterogeneity

    • Without identified causative gene

  • Autosomal recessively inherited neurocutaneous disorders

    • Single‑locus disorders

    • Genetic heterogeneity

  • X‑linked disorders

    • X‑linked recessive (single‑locus)

    • X‑linked dominant with heterogeneity

  • Disorders with varied inheritance patterns

  • Mosaicism-related disorders

  • REFERENCES

3. Clinical Recognition

  • Introduction

  • The genetic approach in medicine

  • Approach to the patient with genetic disease

  • Recognizing inheritance mechanisms

  • Types of genetic testing

    • Cytogenetics

    • Biochemical/metabolic testing

    • Gene (DNA) testing

  • Dysmorphology examination

  • Approach to congenital anomalies

    • Isolated anomalies

    • Sequences

    • Multiple congenital anomalies

  • General characteristics of neurocutaneous disorders

  • Key clinical features

    • Macrocephaly, microcephaly

    • Intracranial hamartomas/calcifications

    • Neurologic symptoms

    • Skin findings: phakomata, tumors, others

    • Cancer predisposition

  • Selected disorder synopses (A–V with OMIM numbers)

  • REFERENCES

4. Neurofibromatosis Type 1

  • Introduction, History, Diagnostic criteria, Variability

  • Clinical manifestations

    • Pigmentary: café‑au‑lait, freckling, Lisch nodules

    • Tumors: neurofibromas, plexiform, optic glioma, malignant tumors

    • Orthopedic and CNS changes, Learning disabilities, Cerebrovascular issues

  • Molecular genetics, Conclusions

  • REFERENCES

5. Neurofibromatosis Type 2

  • Introduction, Clinical manifestations, Radiographic/pathologic findings

  • Genetics, Modifying factors, Management, The future

  • REFERENCES

6. Tuberous Sclerosis Complex

  • Introduction

  • Clinical manifestations

    • Skin, retinal, cardiac, renal, pulmonary, neurologic lesions

  • Radiologic findings

  • Genetic basis and pathogenesis

  • Management issues

  • REFERENCES

7. Von Hippel–Lindau Disease

  • Introduction, Clinical & Neurological features, Genetics, Treatment

  • REFERENCES

8. Neurocutaneous Melanosis

  • Clinical, Skin, Neurologic, Neuroimaging findings

  • Pathogenesis, Management

  • REFERENCES

9. Nevoid Basal Cell Carcinoma (Gorlin) Syndrome

  • Introduction, Clinical manifestations (craniofacial, ocular, skin, odontogenic, others)

  • Genetic basis, Differential diagnosis, Management

  • REFERENCES

10. Epidermal Nevus Syndromes

  • Introduction, Clinical manifestations (cutaneous to extracutaneous)

  • Malignancy risk, Radiology, Histopathology

  • Genetic basis & mosaicism, Pathogenesis, Management

  • REFERENCES

11. Multiple Endocrine Neoplasia Type 2

  • Introduction, Clinical & Radiologic aspects, Pathology, Genetics, Management

  • REFERENCES

12. Ataxia–Telangiectasia

  • Clinical features (skin, neurologic, immunologic, cancer risk), Pathology

  • Differential diagnosis, Laboratory tests, Genetics, Management

  • REFERENCES

13. Incontinentia Pigmenti

  • Introduction, Clinical stages of skin lesions

  • Hair, breast, teeth, nail, skeletal, ophthalmologic, dermatopathologic, neurologic features

  • Differential diagnosis, Genetics, Management

  • REFERENCES

14. Hypomelanosis of Ito

  • Introduction

  • Clinical manifestations (skin, oral, neurologic, tumors, musculoskeletal, ocular)

  • Prognosis, Differential diagnosis, Radiology, Pathology, Etiology, Management

  • REFERENCES

15. Cowden Disease

  • Introduction, Clinical manifestations, Related disorders, Radiographic findings

  • Genetics, Neuropathology, Therapy, Conclusions

  • REFERENCES

16. Pseudoxanthoma Elasticum

  • History, Genetics, Clinical features (skin, eyes, cardiovascular/GI/pulmonary, pregnancy, neurologic)

  • Diagnosis, Management

  • REFERENCES

17. Ehlers–Danlos Syndrome

  • Introduction, Clinical manifestations (aneurysm, fistula, arterial dissection), Other types

  • Genetics (type IV), Conclusions

  • REFERENCES

18. Hutchinson–Gilford Progeria Syndrome

  • Introduction, Clinical manifestations, Differential diagnosis, Genetics & pathogenesis, Management issues

  • REFERENCES

19. Blue Rubber Bleb Nevus Syndrome

  • Introduction, Clinical & Neurologic features, Pathology, Genetics, Treatment, Acknowledgment

  • REFERENCES

20. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu)

  • Introduction, Genetic basis, Clinical & Neurologic features

  • Neurologic complications, Migraine HA, Management, Diagnostic criteria, Screening

  • REFERENCES

21. Hereditary Neurocutaneous Angiomatosis

  • Introduction, Clinical features (cutaneous/cerebral, epilepsy, hemorrhage, vascular anomalies)

  • Pathology, Genetic basis, Differential diagnosis (phakomatoses, vascular hamartomas)

  • Management & prognosis

  • REFERENCES

22. Cutaneous Hemangiomas: Vascular Anomaly Complex

  • Introduction, Clinical manifestations/course, Pathology, Radiology, Cerebellar malformations, Vascular abnormalities

  • Genetic basis, Management (interferon, photocoagulation, thalidomide)

  • REFERENCES

23. Sturge–Weber Syndrome

  • Introduction, Clinical (cutaneous, neurologic, ophthalmologic), Radiographic, Pathology, Treatment, Prognosis

  • REFERENCES

24. Lesch–Nyhan Syndrome

  • Introduction, Clinical features (hyperuricemia consequences), Enzyme defect, Variants

  • Radiology, Pathology, Genetics, Prenatal diagnosis, Management, Gene therapy & prognosis

  • REFERENCES

25. Multiple Carboxylase Deficiency

  • Introduction

  • Holocarboxylase synthetase deficiency (early onset): clinical, radiologic, diagnostic, genetics

  • Biotinidase deficiency (late onset): clinical, radiologic, diagnostic, pathology, genetics, treatment

  • REFERENCES

26. Homocystinuria (CBS deficiency)

  • Introduction

  • Clinical manifestations (eye, CNS, skeletal, vascular, skin/hair)

  • Clinical variability, Radiology, Pathology, Genetics, Management & prognosis

  • REFERENCES

27. Fucosidosis

  • Clinical features (type I/II), Radiologic/pathologic features, Biochemistry, Enzyme, Genetics, Pathophysiology

  • Differential diagnosis, Management & prognosis

  • REFERENCES

28. Menkes Disease

  • Introduction, Clinical manifestations (classical, occipital horn syndrome, intermediate), Radiology, Pathology

  • Physiology (copper transport), Neuropathology, Genetics, Diagnosis, Management & prognosis

  • REFERENCES

29. Xeroderma Pigmentosum, Cockayne Syndrome & Trichothiodystrophy

  • Introduction, DNA damage/repair, History

  • Clinical & neurologic manifestations, Ophthalmologic features, Pathology

  • Genetic classification & molecular defects, Neurogenetics, Treatment, Conclusions

  • REFERENCES

30. Cerebrotendinous Xanthomatosis

  • Introduction, Clinical & Radiologic features, Metabolic/pathology, Biochemistry (bile acid synthesis), Pathology (CNS/PNS), Genetics, Genotype–phenotype correlations

  • Therapy, Management issues

  • REFERENCES

31. Adrenoleukodystrophy

  • Introduction, Clinical & Neurologic findings, Endocrine dysfunction, Cutaneous abnormalities, Radiology, Pathology, Genetics & pathophysiology, Treatment & counseling

  • REFERENCES

32. Peroxisomal Disorders

  • Introduction

  • Refsum disease, RCDP, Sjögren–Larsson syndrome: clinical, pathology, genetics, diagnosis, management

  • REFERENCES

33. Familial Dysautonomia

  • Introduction, Clinical manifestations (GI, respiratory, orthopedic, ophthalmologic, dermatologic, vascular, renal, neurologic), Radiology, Pathology, Genetics, Management, Prognosis

  • REFERENCES

34. Fabry Disease

  • Clinical features, Neurologic complications, Pathology, Genetics, Diagnosis, Treatment

  • REFERENCES

35. Giant Axonal Neuropathy

  • Introduction, Clinical & Radiologic features, Pathology, Genetics, Management & prognosis

  • REFERENCES

36. Chediak–Higashi Syndrome

  • Introduction, Clinical features (skin, ocular, infections, neurologic, coagulation, accelerated phase), Pathology, Genetics, Management & prognosis

  • REFERENCES

37. Encephalocraniocutaneous Lipomatosis

  • Clinical & Radiologic features, Pathology, Genetics, Management & prognosis

  • REFERENCES

38. Cerebello‑Trigemino‑Dermal Dysplasia

  • Introduction, Clinical features (with figures), Radiology, Pathology, Genetics, Management & prognosis, Acknowledgment

  • REFERENCES

39. Coffin–Siris Syndrome

  • Clinical delineation, Pathology, Genetics, Differential diagnosis, Cognitive development

  • REFERENCES

40. Lipoid Proteinosis

  • Clinical & Neurologic features, Radiology, Pathology, Differential diagnosis, Genetics, Management issues

  • REFERENCES

41. Macrodactyly–Nerve Fibrolipoma

  • Introduction, Clinical features, Diagnostics, Pathology, Pathogenesis, Management

  • REFERENCES

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Tags: ES Roach, Van S Miller, Neurocutaneous disorders