Inherited skin disorders : the genodermatoses

書誌事項

Inherited skin disorders : the genodermatoses

edited by John Harper ; genetics advisor, Marcus E. Pembrey ; illustrative editor, Simon Brown

Butterworth-Heinemann, 1996

大学図書館所蔵 件 / 5

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

This is a handbook aimed at those involved in the care of patients with genodermatoses. Each chapter begins with a broad classification and reviews the major diseases, encompassing definition, genetics, clinical features, pathology, course, prognosis and management. Following an introduction covering clinical perspectives, animal models and prenatal dermatology, the second section of the book approaches specific disease groups. Each of the 16 chapters begins with a broad classification and is a comprehensive and up-to-date review of the major diseases. Section three covers counselling, prenatal and pre-implantation diagnosis, and the future for gene therapy.

目次

  • Section 1: Introduction - Clinical perspectives in medical genetics
  • Naturally occurring genetic skin diseases in animals
  • The skin before birth
  • Section 2: Specific Disease Groups - Epidermolysis bullosa
  • The Ichthyoses
  • Erythrokeratodermas, follicular keratoses, palmoplantar keratodermas and porokeratoses
  • Metabolic disorders
  • Ectodermal dysplasias
  • Neurocutaneous syndromes
  • Disorders of Collagen and Elastin
  • Vascular disorders
  • Photosensitivity diseases
  • Pigmentary disorders
  • Premature ageing syndromes
  • The hair and scalp
  • Hereditary and congenital nail disorders
  • Disorders of DNA and chromosomal instability
  • Primary immunodeficiency diseases
  • Genetic diseases which predispose to malignancy
  • Section 3: General Principles of Diagnosis and Management - Genetic counselling
  • Prenatal diagnosis by fetal skin biopsy
  • Pre-implantation diagnosis
  • What future is there in gene therapy?
  • Appendix I: The human gene map for dermatology
  • Appendix II: Index of syndromes
  • Appendix III: Index of differential diagnosis.

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