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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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