Genodermatoses : a clinical guide to genetic skin disorders

420 Pages·2005·24.085 MB·English

by  Joel L. Spitz MD

Genodermatoses
A Clinical Guide to Genetic Skin Disorders
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Genodermatoses
A Clinical Guide to Genetic Skin Disorders
Second Edition
Joel L. Spitz, M.D.
Department of Dermatology
Columbia University College of Physicians
and Surgeons
New York Presbyterian Hospital
New York, New York
Illustrations by Vaune J. Hatch
Deep River, Connecticut
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Copyright © 2005 by Lippincott Williams & Wilkins
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The publisher is not responsible (as a matter of product liability, negligence or otherwise) for an in-
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to general principles of medical care which should not be constructed as specific instruction for in-
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Printed in China
Library of Congress Cataloging-in-Publication Data
Genodermatoses : a full-color guide to genetic skin disorders / [edited by] Joel L. Spitz ;
illustrations by Vaune J. Hatch.—2nd ed.
p. ; cm.
Includes bibliographical references and index.
ISBN-13:978-0-7817-4088-3
ISBN-10:0-7817-4088-6
1. Skin—Diseases—Genetic aspects. I. Spitz, Joel L.
[DNLM: 1. Skin Diseases—genetics—Handbooks. WR 39 G335 2005]
RL793.G46 2005
616.5’042—dc22
2004022073
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To Jackie, Sophia, Jonah, Ava,
Mom and Dad,
My loyal support team
—Joel L. Spitz, M.D.
To my parents and husband with love
—Vaune J. Hatch
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Foreword
Academic dermatologists have recognized for emphasizing important points in the diagnosis and
many decades that a great number of derma- management of the diseases.
tologic conditions have a major genetic com-
ponent. While a substantial proportion of these is The author has clearly devoted a great deal of thought
caused by single gene defects, a number of others rep- and legwork to compiling this unique collection and
resent dermatologic components of either single gene should be commended for making available a book
or multifactional diseases primarily affecting other that will be useful not only for dermatologists but for
organ systems. Recognition of these “genoder- pediatricians, internists, and other primary care prac-
matoses” is not only important for accurate diagnosis titioners. It will allow all of these to have at hand a
but for appropriate counseling of families to take ad- quick reference that will lead them in most cases to the
vantage of a rapidly growing number of newly avail- correct diagnosis and plan of action. Of equal impor-
able therapeutic modalities. tance is the collection in one place of the current state
of the science so as to provide a basis for the under-
This book, in a highly pictorial fashion, provides cur- standing of the pathophysiology of skin diseases.
rent facts to allow correct diagnoses by the physician.
The shorthand descriptions of the genetics and key
features of the individual conditions, as well as avail- Kurt Hirschhorn, M.D.
ability of prenatal diagnosis and management, is well Professor of Pediatrics, Genetics, and Medicine
thought out and relates directly to the excellent illus- Chairman Emeritus, Department of Pediatrics
trations. An unusual component is found in the “clin- Mount Sinai School of Medicine
ical pearls” which are quotes from experts in the field, New York, New York
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Preface
The idea for this book came to me one evening fice? What were his/her particular needs or wor-
while I was studying for my in-service board ex- ries? How could Ihelp them maintain a decent qual-
ams as a second-year dermatology resident. I ity of life? My first instinct would be to call the ex-
was doing my best to cram the facts into my head just pert in handling such a patient. This led to the
as I had done through the past decade of pre-med col- “Clinical Pearls” section, a kind of medical textbook
lege, medical school, and the beginning of residency. conference call in which the reader can eavesdrop on
When I came upon the genodermatoses, I was inun- a telephone conversation between the expert and a
dated with more information about the patients’ skin, clinician in practice.
their peculiar facies, their gait, as well as their livers,
hearts, lungs, and spleens. In order to remember, I Serendipitously, my desire to present the genoder-
needed to synthesize the facts, to see these patients as matoses in a new light came about as the meteoric rise
a whole. I went to the textbooks to see full-body pic- in genetic discoveries began to be chronicled on the
tures and transform these words into a real live per- front pages of The New York Times. Ten years later, the
son. There were none. Sure, there was a snapshot of a speed and breadth of continued genetic discovery has
toe, an ear, or a face; however, the complete picture been nothing short of astonishing. A majority of the
was usually missing. A look at their livers or hearts syndromes covered in the text now have a clearly de-
was even harder to come by. For me, visual cues have fined mutation at its pathogenic core. In addition,
always been the key to remembering. Thus, the trans- since the first edition, progress continues towards de-
parent full-body drawing became the cornerstone of finitive genetic diagnosis, treatment, and cure. The
a new textbook on the genodermatoses. One must entire human genome has been described, preim-
keep in mind that these are idealized drawings at- plantation diagnosis in certain forms of EB has been
tempting to capture the most common findings in accomplished, and retroviral vectors have genetically
each syndrome. By no means do the illustrations at- transferred DNA and temporarily “cured” diseases
tempt to depict a specific patient. Likewise, in our at- such as Severe Combined Immunodeficiency.
tempt to draw the patient’s entire body, the figure
must be placed at a distance to fit all the findings. In Dr. Ervin Epstein has been called upon once again to
doing so, we lost a bit of detail on some cutaneous update his introduction from the first edition. While
manifestations. In most cases I believe the color pho- he and others zoom in on our DNA and discover the
tographs help correct this limitation when it occurs. genetic mechanisms that produce these syndromes,
we need to remain clinically sharp, to pick up on
The standard texts covered this subject with dense subtleties that may elude the unsuspecting and thus
prose, sometimes impossible to get through, let alone ill-prepared physician. I have never met a more as-
memorize. There was an obvious need to “bulletize” tute clinician than Kurt Hirschhorn, who is Chair-
information. This I’ve tried to accomplish. man Emeritus of Pediatrics at Mount Sinai Hospital
in New York City and a world leader in the field of
As I thought about this subject, I began to think like medical genetics. It is a great honor for me to have
a clinician. How would I work up a patient in my of- him write the foreword to this book.
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