Genetic Skin Disorders, Second Edition




Author: Virginia Sybert
Type: eBook
Date Released: 2010
Format: pdf
Language: English
Page Count: 784
Isbn10 Code: 0195397665
Isbn13 Code: 9780195397666


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. --This text refers to an out of print or unavailable edition of this title. Review "Genetic Skin Disorders is designed to be used by basic researchers looking for an easy to use overview, and by practicing clinicians. There are over 325 conditions described in this book arranged in a hierarchy that is logical and practical....Although there are several recent, less-expensive one-volume works covering inherited skin diseases, the overall strength of this work is its ready-reference ease of use. The articals are clear and well laid out. Its margins and typeface make it easy to use....Its breadth of subject coverage, use of photographs, and concise organization makes it a useful addition to any academic or clinical library collection."--E-STREAMS "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...The book is far better for the glimpses of the author's intellect."--Ervin H. Epstein, Jr., MD and Michelle Aszterbaum, MD, The New England Journal of Medicine "Virginia Sybert has done an outstanding job on her book Genetic Skin Diosrders. She has produced a useable encyclopedic volume that will be greatly appreciated by students and practitioners in dermatology, pediatrics, and genetics....this is a reader-friendly, easy-to-use reference book, which is comprehensive, informative, up-to-date, instructive, and not least of all entertaining. The author's wit and wisdom is peppered throughout the book, which entices the reader to look at 'just one more section' before setting it down."--Journal of the American Academy of Dermatology "This new guidebook provides an excellent means of retrieving...information rapidly....This book's clear outline, excellent illustrations and diagnostic reference tables will be invaluable to paediatricians as well as to clinical geneticists and dermatologists."--Paediatric Child Health Journal "This is a comprehensive categorical compendium of genetic skin disorders. Each disorder has a differential diagnosis,clinical description, and annotated bibliography. Most have excellent photographs....This is a book that belongs in the office of every dermatologist, and in the library of every pediatric residency program next to SMITH. I recommend it without peer for dermatology board exams and recertification study. No other similar has the list of support groups, therapeutic suggestions, and the annoted bibliography found here." --Doody's "It is more focused than an Internet search and has the additional advantage that you can quickly compare several disorders. In addition, there are brief therapy suggestions where the author clearly inidcates what has worked for her or what others have reported. As Dr. Sybert indicates in the introduction, there are a number of books on genetic skin diseases, but her aim was to produce a practical, personalized version. She has succeeded admirably." -- Pediatric Dermatology

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