Virginia P. Sybert Genetic Skin Disorders

ISBN 13: 9780195062182

Genetic Skin Disorders

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This book provides a comprehensive survey which details the clinical abnormalities, histopathology (including both light and electron microscopy), biochemical and molecular information, treatment, mode of inheritance and recurrence risks, prenatal diagnosis, differential diagnosis, and support for inherited dermatologic disorders. Clinicians will find the text comprehensible and practical The author has succeeded in presenting the material in a language accessible to the non-geneticist. The appendix allows physicians to quickly find the correct diagnoses to consider. The listing of specific patient support groups will be welcomed by counselors and physicians who wish to provide such information to their patients. The annotated bibliography for each entry is carefully selected to include the key reviews and pivotal papers on the subject from journals and other sources readily available to practitioners. The volume is lavishly illustrated with over 500 color and some 200 black-and-white top-quality photographs, many of which come from the author's private collection. Virginia Sybert's training and experience in both dermatology and medical genetics have been brought to bear in this volume--a lucid synthesis of information on genetic diseases of the skin. Current hypotheses and classic assumptions are presented and assessed in the light of her own clinical experience. Any physician or genetic counselor faced with a patient in whom the potential for a genetic disorder of the skin exists will find this book a practical 7ool of immense interest.

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About the Author:


Virginia Sybert is Professor and Head of the Division of Dermatology, Professor in the Division of Medical Genetics, Department of Pediatrics, and Adjunct Professor in the Division of Medical Genetics and Dermatology, Department of Medicine, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle.

From The New England Journal of Medicine:

Dermatologists love to argue about disease taxonomy, and their efforts to define diseases over the past two centuries have relied primarily on phenotypes observable with the naked eye. That organ of detection can recognize distinctions that are more subtle than those recognized by means of the stethoscope, the x-ray, or the Petri dish -- hence, the number of recognized skin diseases is enormous. Since so many of these abnormalities "run in families," it is not surprising that diseases of the skin have been a rich lode that has not escaped the recent attention of the molecular-genetics miners. It is thus a bit surprising that until recently, the clinical focus of these interests has been summarized primarily by Butterworth and Strean's slender 1962 textbook, Clinical Genodermatology (Baltimore: Williams and Wilkins).

The paucity of book-length summaries of genetic disorders of the skin has changed markedly during the past three years with the publication of the Handbook of Genetic Skin Disorders by Novice et al. (Philadelphia: W.B. Saunders, 1994), an outline description of a comprehensive list of genodermatoses; Spitz's Genodermatoses (Baltimore: Williams and Wilkins, 1996), a photograph-figure-tabular guide with two facing pages per disease; and Moss and Savin's Dermatology and the New Genetics (Cambridge, Mass.: Blackwell Science, 1995), a 200-page compendium of diseases, also with color photographs, but arranged in a more classic textbook format with a description of each disease. These books represent major achievements, and each is authoritative and user-friendly.

Now joining this trio is Sybert's magisterial Genetic Skin Disorders, with encyclopedic discussions of more than 300 afflictions. Each description includes the requisite sections on skin and extracutaneous manifestations, inheritance, what is known of the basic defect, the differential diagnosis, and suggestions for treatment, as well as an unusually helpful annotated bibliography and an appendix listing diseases according to physical signs. But what distinguishes this work from the usual giant multiauthored good gray textbooks is the confidence bred from extensive clinical experience that is reflected in the critical commentary expressed in lively prose. For example, in describing the LEOPARD syndrome, Sybert comments, "Case reports of successful obliteration of lentigenes with dermabrasion and cryotherapy dot the literature.... I am unsure if isolated autosomal dominant multiple lentigenes exist," and the legend beneath the photograph of a patient's heavily spotted back reads, "Wall-to-wall lentigenes." It is to the credit of Oxford University Press that it has supported this personal statement, and the book is far better for the glimpses of the author's intellect.

Certainly, we cannot imagine a dermatologist or geneticist who will not buy two copies -- one for the office or clinic and one for the bedside table (we recommend one disease qhs for a year, skipping whichever Sabbath you observe) -- or a library serving clinicians that will not buy its own copy. None of us besides Dr. Sybert (or maybe the redoubtable Robert Gorlin or Victor McKusick) could possibly remember all these diseases unassisted, and in an era when the lesson of molecular genetics is that the clinicians did a pretty good job -- their lumping and splitting by and large separated fundamentally different diseases -- who could possibly make do without this information?

With the much-anticipated redefinition of inherited dermatologic diseases according to genotype rather than phenotype and the much-feared usurpation of the printed page by the World Wide Web and of the superspecialist by the generalist, this may be the end of the line for such a textbook. That's a pity, for we much prefer what we've seen of Sybertspace to what we've seen of cyberspace.

Reviewed by Ervin H. Epstein, Jr., M.D.
Copyright © 1998 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.

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9780195397666: Genetic Skin Disorders (Oxford Monographs on Medical Genetics)

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ISBN 10:  0195397665 ISBN 13:  9780195397666
Publisher: Oxford University Press, 2010
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