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 Genetic Skin Disorders, Second Edition

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Genetic Skin Disorders, Second Edition
By Virginia Sybert

  • Publisher:   Oxford University Press, USA
  • Number Of Pages:   784
  • Publication Date:   2010-06-09
  • ISBN-10 / ASIN:   0195397665
  • ISBN-13 / EAN:   9780195397666
  • This valuable text represents a comprehensive
    survey of well over 300 distinct inherited dermatologic conditions.
    Each disease entry follows a consistent format, allowing the clinician
    to quickly scan and access key information for differential diagnosis.
    Each entry contains sections devoted to dermatologic features,
    associated clinical abnormalities, histopathology, biochemical and
    molecular information, treatment, mode of inheritance and recurrence
    risk, prenatal diagnosis, and information on differential diagnosis. In
    addition the author has included support group listings and detailed
    annotated references which will be of invaluable benefit for clinicians.
     The book is lavishly illustrated with color photos to illustrate the
    conditions and conditions are grouped into categories reflecting the
    primary site of the major dermatologic features to aid the clinician
    encountering a condition for the first time. The material is well-
    written and presented in a highly engaging, reader-friendly voice which
    makes the content interesting and accessible to the geneticist and
    non-geneticist alike.  This invaluable resource reflects the author's
    extensive clinical experience and expertise in genetics and dermatology
    that provides a clear and critical synthesis of information on the
    genetics of diseases affecting the skin.
        Any clinician faced with a
    patient in whom the possibility for a genetic disorder of the skin
    exists will find this book a practical tool of immense interest.
    new edition reflects a decade of new research advances in our
    understanding of the molecular basis for these conditions.  Major
    additions have been added for over 150 of the entries, including
    information on treatment advances and advances in the natural history of
    disorders.  All references have been updated as well as support group
    information and website resources.
  • 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
     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.
     " This new guidebook provides an excellent means of retrieving ...
    information rapidly. ... very reassuring to have such a concise and
    thorough source of reference. This book's clear outline, excellent
    illustrations and diagnostic reference tables will be invaluable to
    paediatricians as well  as clinical geneticists and dermatologists."
    Paediatric and Child Health (Aug 1998)
    "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

    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

    "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 similar book has the list of support  groups,
    therapeutic suggestions, and the annoted bibliography found
     --This text refers to an out of print or unavailable edition of this title.


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