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

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