Table Of ContentAMERICAN COLLEGE OF LABORATORY
ANIMAL MEDICINE SERIES
Steven H. Weisbroth, Ronald E. Flatt, and Alan L. Kraus, eds.:
The Biology of the Laboratory Rabbit, 1974
Joseph E. Wagner and Patrick J. Manning, eds.:
The Biology of the Guinea Pig, 1976
Edwin J. Andrews, Billy C. Ward, and Norman H. Altman, eds.:
Spontaneous Animal Models of Human Disease, Volume 1,1979;
Volume II, 1979
Henry J. Baker, J. Russell Lindsey, and Steven H. Weisbroth, eds.:
The Laboratory Rat, Volume I: Biology and Diseases, 1979
In preparation
Henry J. Baker, J. Russell Lindsey, and Steven H. Weisbroth, eds.:
The Laboratory Rat, Volume II: Research Applications
Spontaneous Animal Models
of Human Disease
VOLUME II
EDITED BY
EDWIN J. ANDREWS BILLY C. WARD
ETHICON Research Foundation College of Veterinary Medicine
ETHICON, Inc. Mississippi State University
Somerville, New Jersey Mississippi State, Mississippi
NORMAN H. ALTMAN
Papanicolaou Cancer Research Institute
Miami, Florida
Θ
ACADEMIC PRESS
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1979
COPYRIGHT © 1979, BY ACADEMIC PRESS, INC.
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ACADEMIC PRESS, INC.
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United Kingdom Edition published by
ACADEMIC PRESS, INC. (LONDON) LTD.
24/28 Oval Road, London NW1 7DX
Library of Congress Cataloging in Publication Data
Main entry under title:
Spontaneous animal models of human disease.
Includes bibliographies and index.
1. Diseases—Animal models. 2. Laboratory animals
—Diseases. I. Andrews, Edwin J. II. Ward, Billy C.
III. Altman, Norman H. [DNLM: 1. Disease models,
Animal. QY58 S763]
RB125.S66 619 79-1014
ISBN 0-12-058502-2 (v. 2)
PRINTED IN THE UNITED STATES OF AMERICA
79 80 81 82 9 8 7 6 5 4 3 2 1
List of Contributors
Numbers in parentheses indicate the pages on which the W. F. Blakemore (133), Wellcome Laboratory for Com-
authors' contributions begin. parative Neurology, Department of Clinical Veteri-
nary Medicine, Cambridge CB3 OES, England
M. R. Alley (23), Department of Veterinary Pathology and
K. C. Bovee (267, 277, 278, 288, 289), Department of Clin-
Public Health, Massey University, Palmerston North,
ical Sciences, School of Veterinary Medicine, Univer-
New Zealand
sity of Pennsylvania, Philadelphia, Pennsylvania 19104
R. E. Austic (246), Department of Poultry Sciences, New
R. Bradley (97), Central Veterinary Laboratory, New Haw,
York State College of Agriculture and Life Sciences,
Weybridge, Surrey KT15 3NB, England
Cornell University, Ithaca, New York 14853
R. G. Breeze (181, 182, 183, 184, 185, 187, 189, 191, 192,
D. R. Averill (162), Department of Neuropathology, Chil-
193, 194), Department of Veterinary Microbiology and
dren's Hospital Medical Center, and Department of
Pathology, Washington State University, Pullman,
Pathology, Harvard Medical School, Boston, Mas-
Washington 99164
sachusetts 02115
R. S. Brodey(241), Department of Clinical Sciences, School
R. A. Axelsen1 (279), Department of Pathology, School of
of Veterinary Medicine, University of Pennsylvania,
Medicine, University of Maryland, Baltimore, Mary-
Philadelphia, Pennsylvania 19104
land 21201
R. G. Brown3 (203), Department of Animal Science, Uni-
B. B. Baker (44), College of Veterinary Medicine and
versity of Guelph, Guelph, Ontario, Canada
Biochemical Sciences, Department of Clinical Sci-
V. M. Cämara (79), Department of Veterinary Microbiol-
ences, Colorado State University, Fort Collins,
ogy and Pathology, Washington State University,
Colorado 80521
Pullman, Washington 99164
H. J. Baker (63, 125), Department of Comparative Medi-
J. R. Campbell (236, 237), Department of Veterinary
cine, Schools of Medicine and Dentistry, University
Surgery, Royal (Dick) School of Veterinary Studies,
of Alabama in Birmingham, Birmingham, Alabama
Summerhall, Edinburgh EH9 1QH, Scotland
35294
N. F. Cheville (41), National Animal Disease Center,
J. R. Baker (240), Department of Veterinary Pathology,
Ames, Iowa 50010
University of Liverpool, Veterinary Field Station,
R. K. Cole (246), Department of Poultry Science, New
Leahurst, Neston, Wirral, England
York State College of Agriculture and Life Sciences,
W. G. Beamer (69), The Jackson Laboratory, Bar Harbor,
Cornell University, Ithaca, New York 14853
Maine 04609
S. Colwell (20), Russian Jack Animal Hospital, Anchorage,
D. Bennett (236, 237), Department of Surgery, University
Alaska 99504
of Glasgow Veterinary School, Glasgow G61 1QH,
J. D. Conroy (3, 16, 19, 25, 26, 30, 39), Center for Paraclin-
Scotland
ical Sciences, College of Veterinary Medicine, Missis-
R. L. Blake2 (74), Box 69, Hulls Cove, Maine 04644
sippi State University, Mississippi State, Mississippi
39762
PRESENT ADDRESS: Department of Pathology, University of
Queensland Medical School, Herston, Queensland 4006, Australia
2PRESENT ADDRESS: Department of Zoology, University of Maine at 3PRESENT ADDRESS: Department of Food Science and Nutrition,
Orono, Orono, Maine 04473 University of Massachusetts, Amherst, Massachusetts 01003
XV
XVI List of Contributors
D. R. Cordy (144), Department of Pathology, School of College of Veterinary Medicine, University of Min-
Veterinary Medicine, University of California, Davis, nesota, St. Paul, Minnesota 55108
California 95616 R. R. Fox (202, 228, 270), The Jackson Laboratory, Bar
C. E. Cornelius (51), College of Veterinary Medicine, J. Harbor, Maine 04609
Hillis Miller Health Center, University of Florida, S. M. Gaafar (17), School of Veterinary Medicine, Purdue
Gainesville, Florida 32610 University, West Lafayette, Indiana 47907
D. F. Counts (36), Department of Veterinary Microbiology P. C. Gambardella (223), Angell Memorial Animal Hospi-
and Pathology, Washington State University, Pullman, tal, Boston, Massachusetts 02130
Washington 99164 E. J. Gardner (223), Department of Biology, College of
L. D. Cowgill (69), Department of Medicine, School of Science, Utah State University, Logan, Utah 84322
Veterinary Medicine, University of California, Davis, J. P. Gibson (246, 249), Department of Pathology and Tox-
California 95616 icology, Merrell-National Laboratories, Division of
D. D. Crary (202), The Jackson Laboratory, Bar Harbor, Richardson Merrell, Inc., Cincinnati, Ohio 45215
Maine 04609 C. E. Greene (114), Department of Small Animal Medicine,
J. F. Cummings (109, 174, 176, 177), Department of College of Veterinary Medicine, University of Georgia,
Anatomy, New York State College of Veterinary Athens, Georgia 30601
Medicine, Cornell University, Ithaca, New York 14853 H. J. Greene (206, 207, 209, 212), Department of Pathol-
M. V. Dahl (27), University of Minnesota Medical School, ogy, University College Dublin, Veterinary College,
Minneapolis, Minnesota 55455 Ballsbridge, Dublin 4, Ireland
A. de Lahunta (152), New York State College of Veterinary I. R. Griffiths (172), Department of Veterinary Surgery,
Medicine, Cornell University, Ithaca, New York 14853 University of Glasgow Veterinary School, Glasgow
W. C. Dement (165), Sleep Disorders Center, Department G61 1QH, Scotland
of Psychiatry and Behavioral Sciences, Stanford Uni- R. R. Gronwall (53), College of Veterinary Medicine, J.
versity School of Medicine, Stanford, California 94305 Hillis Miller Health Center, University of Florida,
L. DenBesten (57), Department of Surgery, UCLA School Gainesville, Florida 32610
of Medicine, Los Angeles, California 90024 N. J. Gurll (57), College of Medicine, University of Iowa,
S. M. Dennis (119), Department of Pathology, College of Iowa City, Iowa 52242
Veterinary Medicine, Kansas State University, Man- W. J. Hadlow (102), U.S. Department of Health, Educa-
hattan, Kansas 66506 tion and Welfare, Public Health Service, National In-
W. B. Douglas (86), Department of Neurosciences, stitutes of Health, National Institute of Allergy and
McMaster University Medical Center, Hamilton, On- Infectious Diseases, Rocky Mountain Laboratory,
tario L8S 4J9, Canada Hamilton, Montana 59840
H. L. Edmonds, Jr. (154), Department of Anesthesiology, R. E. W. Halliwell (28, 253), Department of Medical Sci-
University of Louisville School of Medicine, Louis- ences, J. Hillis Miller Health Center, University öf
ville, Kentucky 40202 Florida, Gainesville, Florida 32610
E. M. Eicher (69), The Jackson Laboratory, Bar Harbor, T. E. Hamm, Jr.5 (170), University of Colorado Medical
Maine 04609 Center, Denver, Colorado 80220
R. N. Feinstein (63), Division of Biological and Medical J. W. Harding (158), Department of Veterinary Microbiol-
Research, Argonne National Laboratory, Argonne, Il- ogy and Pathology, Washington State University,
linois 60439 Pullman, Washington 99164
A. W. Fetter4 (257), Department of Veterinary Pathobiol- R. M. Hardy (54), Department of Small Animal Clinical
ogy, The Ohio State University, Columbus, Ohio Sciences, College of Veterinary Medicine, University
43210 of Minnesota, St. Paul, Minnesota 55108
D. R. Finco (267, 273, 274), Department of Physiology, J. A. Harper (93), Department of Poultry Science, School
College of Veterinary Medicine, University of Geor- of Agriculture, Oregon State University, Corvallis,
gia, Athens, Georgia 30602 Oregon 97331
O. J. Fletcher (251), College of Veterinary Medicine, Uni- G. A. Hegreberg (36, 85, 96, 100, 154, 158, 220), Depart-
versity of Georgia, Athens, Georgia 30602 ment of Veterinary Microbiology and Pathology,
T. F. Fletcher (140), Department of Veterinary Biology, Washington State University, Pullman, Washington
99164
4PRESENT ADDRESS: Laboratory of Large Animal Pathology, Uni-
versity of Pennsylvania, New Bolton Center, Kennett Square, Pennsyl- 5PRESENT ADDRESS: Carcinogenesis Testing Program, National
vania 19348 Cancer Institute, National Institutes of Health, Bethesda, Maryland 20014
List of Contributors XVII
J. A. Himes (51, 52, 59), College of Veterinary Medicine, J. D. R. Krawiec (17), Department of Small Animal Medi-
Hillis Miller Health Center, University of Florida, cine, College of Veterinary Medicine, University of
Gainesville, Florida 32610 Minnesota, St. Paul, Minnesota
G. N. Hoag6 (203), Union Hospital, Mouse Jaw, Sas- H. W. Leipold (119), Department of Pathology, College of
katchewan, Canada Veterinary Medicine, Kansas State University, Man-
D. F. Holmes (174), Departments of Anatomy and Mi- hattan, Kansas 66506
crobiology, New York State College of Veterinary N. C. Leone (223), Department of Animal, Diary, and Vet-
Medicine, Cornell University, Ithaca, New York 14853 erinary Science, Utah State University, Logan, Utah
F. Homburger (85, 94), Bio-Research Institute, Inc., Cam- 84322
bridge, Massachusetts 02141 S-K. Liu (105, 239), Department of Pathology, The Animal
B. D. Hultgren (54), University of Minnesota, College of Medical Center, New York, New York 10021
Veterinary Medicine, St. Paul, Minnesota 55108 M. F. Lyon (274), Radiobiology Unit, Medical Research
C. E. Hunt (63, 66, 76), Department of Comparative Council, Harwell, Didcot, Oxon OX11-ORD, England
Medicine, Schools of Medicine and Dentistry, Univer- H. M. McClure (64, 116), Department of Veterinary
sity of Alabama in Birmingham, Birmingham, Alabama Pathology, Yerkes Regional Primate Research Center,
35294 Emory University, Atlanta, Georgia 30322
P. J. Ihrke (21), Department of Medicine, School of Vet- J. T. McGrath (123, 139, 142, 147), Department of
erinary Medicine, University of California, Davis, Pathobiology, School of Veterinary Medicine, Univer-
California 95616 sity of Pennsylvania, Philadelphia, Pennsylvania 19104
L. C. Johnson (223, 257), Orthopedic Pathology, Armed E. A. Machado (268), University of Tennessee, Center for
Forces Institute of Pathology, Washington, D.C. the Health Sciences, Department of Medical Biology/
20306 Memorial Research Center, Knoxville, Tennessee
R. D. Jolly (23, 135), Department of Veterinary Pathology 37920
and Public Health, Massey University, Palmerston P. J. McKeever (27), Department of Small Animal Clinical
North, New Zealand Sciences, College of Veterinary Medicine, University
L. M. Julian (85, 90, 222), Department of Anatomy, School of Minnesota, St. Paul, Minnesota 55108
of Veterinary Medicine, University of California, K. M. Meyers (99), Department of Veterinary and Com-
Davis, California 95616 parative Anatomy, Pharmacology and Physiology, Wash-
H. Kacser (72), Department of Genetics, University of ton State University, Pullman, Washington 99164
Edinburgh, Edinburgh EH9 3JN, Scotland M. M. Mitler7 (165), Sleep Disorders Center, Department
M. E. Keeling (64), University of Texas System Cancer of Psychiatry and Behavioral Sciences, Stanford Uni-
Center, Science Park, Veterinary Division, Bastrop, versity School of Medicine, Stanford, California 94305
Texas 78602 L. N. Morris (213, 214, 216, 218), Departments of An-
R. F. Kibler (64), Department of Neurology, Emory Uni- thropology and Orthodontics, University of
versity School of Medicine, Atlanta, Georgia 30322 Washington, Seattle, Washington 98105
H. Kitchen (121), Department of Environmental Practice, G. H. Müller (29), Department of Dermatology, Stanford
College of Veterinary Medicine, and Agriculture Ex- University Medical School, Stanford, California
periment Station, University of Tennessee, Knoxville, J. F. Munnell(160), Department of Anatomy and Radiology,
Tennessee 37901 College of Veterinary Medicine, University of Geor-
J. S. Klausner (286), Department of Small Animal Clinical gia, Athens, Georgia 30601
Sciences, College of Veterinary Medicine, University C. D. Newton (253), School of Veterinary Medicine, Uni-
of Minnesota, St. Paul, Minnesota 55108 versity of Pennsylvania, Philadelphia, Pennsylvania
D. F. Kohn (111), Department of Comparative Medicine, 19104
University of Texas Medical School, Houston, Texas F. A. Nickels (262), Department of Clinical Medicine and
77025 Surgery, College of Veterinary Medicine, Washington
N. Koppang (136), National Veterinary Institute, Oslo 1, State University, Pullman, Washington 99164
Norway A. E. Olson (223), Department of Veterinary Sciences, Col-
J. W. Kramer (100), Department of Veterinary Clinical lege of Agriculture, Utah State University, Logan,
Surgery and Medicine, Washington State University, Utah 84322
Pullman, Washington 99164 C. A. Osborne (286, 290), Department of Small Animal
7PRESENT ADDRESS: Department of Psychiatry and Behavioral Sci-
6PRESENT ADDRESS: Rheumatic Disease Unit, University Hospital, ence, Health Sciences Center, State University of New York, Stony
Saskatoon, Saskatchewan, Canada Brook, New York 11794
XVIII List of Contributors
Clinical Sciences, College of Veterinary Medicine, J. L. Shupe (223), Department of Animal, Dairy, and Vet-
University of Minnesota, St. Paul, Minnesota 55108 erinary Science, Utah State University, Logan, Utah
R. ap R. Owen8 (272), Department of Clinical Studies, 84322
Ontario Veterinary College, University of Guelph, D. O. Slauson (280), Department of Veterinary Pathology,
Guelph, Ontario NIG 2W1, Canada New York State College of Veterinary Medicine, Cor-
G. A. Padgett (204), Department of Pathology, College of nell University, Ithaca, New York 14853
Veterinary Medicine, Michigan State University, East M. E. Smart (203), Department of Veterinary Clinical
Lansing, Michigan 48824 Studies, Western College of Veterinary Medicine,
A. C. Palmer (104), Department of Clinical Veterinary University of Saskatchewan, Saskatoon, Saskatchewan
Medicine, Wellcome Laboratory for Comparative S7N 0W0, Canada
Neurology, Cambridge, England H. W. Sokol (293), Department of Physiology, Dartmouth
W. S. Parker (222), Campus Commons Dental Court, Sac- Medical School, Hanover, New Hampshire 03755
ramento, California 95825 J. B. Stevens (54, 290), College of Veterinary Medicine,
D. H. Percy (132), Laboratory Animal Services, Health University of Minnesota, St. Paul, Minnesota 55108
Sciences Center, University of Western Ontario, Lon- R. T. Swank (70), Roswell Park Memorial Institute, Buf-
don N6A 5C1, Canada falo, New York 14263
R. I. Peters (99), Department of Veterinary and Compara- D. G. Topel (103), Department of Animal Science, Iowa
tive Anatomy, Pharmacology and Physiology, Wash- State University, Ames, Iowa 50010
ington State University, Pullman, Washington 99164 H. Uno (31), Division of Cutaneous Biology and Laboratory
D. J. Polzin (290), Department of Small Animal Clinical of Pathology, Oregon Regional Primate Research
Sciences, College of Veterinary Medicine, University Center, Beaverton, Oregon 97005
of Minnesota, St. Paul, Minnesota 55108 M. Vandervelde (114), Scott-Ritchey Research Founda-
D. J. Prieur (79), Department of Veterinary Microbiology tion, School of Veterinary Medicine, Auburn Univer-
and Pathology, Washington State University, Pullman, sity, Auburn, Alabama 36830
Washington 99164 J. F. Vondruska (109, 113), The Quaker Oats Company,
N. W. Rantanen (220), College of Veterinary Medicine, Barrington, Illinois 60010
Washington State University, Pullman, Washington D. G. Walker9 (228), Department of Anatomy, The Johns
99164 Hopkins University School of Medicine, Baltimore,
J. D. Reeves (228), David Grant USAF Medical Center, Maryland 21205
Pediatric Hematology/Oncology, Travis Air Force P. S. Ward (97), Department of Pathology, Central Veteri-
Base, California 94535 nary Laboratory, New Haw, Weybridge, Surrey KT15
W. H.,Riser (233), Department of Pathobiology, School of 3NB, England
Veterinary Medicine, University of Pennsylvania, I. Watanabe (143), Veterans Administration Hospital, Kan-
Philadelphia, Pennsylvania 19104 sas City, Missouri 64128
J. A. Roberts (276, 296), Delta Regional Primate Research E. B. Wheeldon (181, 182, 183, 184, 185, 187, 189, 191,
Center, Covington, Louisiana 70433 192, 193, 194), Department of Pathology, School of
R. H. Schaible (11, 13, 15), Department of Medical Gene- Veterinary Medicine, University of California, Davis,
tics, Indiana University School of Medicine, Indi- California 95616
anapolis, Indiana 46202 H. M. Wisniewski (148), New York State Institute for Basic
J. A. Schmitz (93), Department of Veterinary Medicine, Research in Mental Retardation, Staten Island, New
Oregon State University, Corvallis, Oregon 97331 York 10314
H. R. Schumacher (253), Hospital of the University of J. C. Woodard (156), Division of Comparative Pathology,
Pennsylvania, Philadelphia, Pennsylvania 19104 College of Veterinary Medicine, J. Hillis Miller Health
D. W. Scott (34, 45), Department of Clinical Sciences, New Center, University of Florida, Gainesville, Florida
York State College of Veterinary Medicine, Cornell 32610
University, Ithaca, New York 14853 B. L. Yano (290), College of Veterinary Medicine, Univer-
V. J. Selmanowitz (3), New York Medical College, Metro- sity of Minnesota, St. Paul, Minnesota 55108
politan Hospital Center, New York, New York 10029 D. M. Young (79, 199, 257), Department of Veterinary
Science, Veterinary Research Laboratory, Montana
State University, Bozeman, Montana 59717
8PRESENT ADDRESS: Bron Fyrnwy, Llanymynech, Powys, Cymru,
SY22 6LG, United Kingdom Deceased.
Preface
During the past 20 years the "laboratory animal" has geoning field where new models are discovered daily; to
come into both an increasingly important scientific role and dispel misconceptions about long profered models which
public visibility. The scientific necessity of using animal have little or no resemblance to their human counterparts;
models has long been recognized. Environmental pres- and to point out the major difference between the various
sures, declining availability of certain species, and in- animal models and their human analogs.
creased scrutiny of research funding have resulted in a Because of the great number of spontaneous animal
keener appreciation for the quality and appropriateness of a models recognized today, it was necessaiy to limit the
given species for biomedical research. In order to assist scope of this work. Accordingly, a conscious effort has been
scientists in choosing appropriate animals for research, made to exclude infectious, neoplastic, toxic, and nutri-
many agencies and organizations, including the National tional experimental models, save a few worthy examples
Institutes of Health, the National Academy of Sciences, the scattered throughout. Each of these subjects represents a
American Association for Laboratory Animal Science, and major work in itself, and it is our hope that the acceptance
the American College of Laboratory Animal Medicine of this work by the scientific community will justify and
(ACLAM), have held symposia, workshops, and seminars stimulate further works on these equally important models.
and have published monographs, reviews, and lists on We have divided the 16 parts into two volumes and fol-
available models. While several attempts have been made lowed a body system format. Many diseases could be
to bring these compendia together, no single publication is spread across several sections as they affect multiple organ
presently available to assist the comparative pathologist, systems. Our attempt has been to discuss the model in the
veterinarian, physician, biomedical scientist, or student. part which represents the usual pathoanatomic association
This two-volume work was conceived in 1970 as an answer for the disease.
to this need but was not formally initiated until 1974 when Despite the efforts of the 236 contributors that brought
ACLAM agreed to sponsor the text as part of its continuing this work to fruition we realize that some diseases have not
series to encourage education, training, and research in been discussed in sufficient detail or for various reasons do
laboratory animal medicine. not appear at all. We look forward to ever improving with
The basic purposes of this work are threefold: to be as subsequent editions.
comprehensive as can be realistically achieved in this bur-
Edwin J. Andrews*
Billy C. Ward
Norman H. Altman
*PRESENT ADDRESS: Research and Development, Hancock Labora-
tories, Inc., Anaheim, California
XIX
Chapter 1 45
Ectodermal Dysplasias Including
Epitheliogenesis Imperfecta, Ichthyoses,
Chapter 1 AA and Follicular/Glandular Anomalies
Introduction
V. J. SELMANOWITZ
J. D. CONROY
I. INTRODUCTION
I shall resist the temptation to offer notable quotations by Derivatives of epithelial ectoderm include the epider-
foreseeing persons emphasizing the value and need for mis, cutaneous appendageal epithelium, and mucosa con-
comparative medical studies. However, it shall be sufficient tiguous with the skin. The cutaneous appendages include
to mention that the skin and mucocutaneous junctions offer pilosebaceous/apocrine and eccrine units and nails, claws,
an ideal terrain to serve as a meeting ground for compara- or hooves as the case may be.
tive studies of the biology and pathophysiology of this quite Neuroectoderm separates from integumentary ectoderm
accessible but wonderful, complicated, and variable organ. during embryogenesis. However, the derived nervous sys-
Human skin is characterized by an apparent paucity of tem continues to be integrally related to the development
pelage; its functions and adaptations are related to this and sustenance of the skin. Studies of the skin of reptiles,
nakedness. Animal skin not only serves as a protective en- amphibians, and chicks have demonstrated that factors ex-
velope from physical and chemical injury but it also ternal to the skin control differentiation of surface character
functions as a means of communication, locomotion, or- and patterning of pigmentation and appendages. These fac-
namentation, and secretion of substances which attract or tors relate to nerves and their distribution.
repel other organisms. Aberrant developments (dysplasias) have been recog-
Part IX is devoted to spontaneous animal models of nized in a broad spectrum of neurocutaneous syndromes.
human cutaneous disease. The study of spontaneous disor- An example of a neurocutaneous syndrome in human be-
ders of lower animals often provides information that is ings is the Sjögren-Larsson syndrome where ichthyosis oc-
more relevant to human disease than can be obtained by curs in conjunction with mental retardation and spasticity.
evaluating experimentally induced disease in animals. The Ectodermal dysplasias can affect vision, hearing, and ol-
diseases in this part include both hereditary and acquired faction. Corneal epithelium, lens, components of the ciliary
conditions of the epidermis, folliculoglandular appendages, process and iris, tympanic membrane, and sensory epi-
dermis, and subcutaneous fat. thelia of auditory and olfactory organs are derived from
The etiopathogenesis of the diseases characterized in- ectoderm. Associated dental defects can reflect ectodermal
clude abberrant development (dysplasia), chemical irrita- origin of enamel.
tion and hypersensitivity, self-trauma, autoimmunity, an- The neural crest begins as a strip of specialized ectoderm
drogenetic disorders, metabolic disturbances, and several flanking each side of the neural plate. The crest is the
idiopathic degenerative, inflammatory, and pigmentary source of melanocytes, spinal and autonomic ganglia cells,
disorders. Schwannian nerve sheath cells (neuroectoderm), and
mesenchyme (mesectoderm)—all of which have anatomic
bearing on the skin—and of the meninges of the brain,
tooth papillae, adrenal medulla, and cartilages. Among the
representatives of neural crest syndromes are von
Recklinghausens disease (neurofibromatosis) and len-
tiginosis profusa. Human findings in the former include
melanotic pigmentations (cafe-au-lait-spots), cutaneous and
internal tumors of neuroectodermal origin (mainly
neurofibromas), skeletal malformations, and adrenal
pheochromocytoma. Neurofibromatosis can be found in the
animal kingdom from quadruped mammals (e.g., dogs) to
3
Chapter 1 45
Ectodermal Dysplasias Including
Epitheliogenesis Imperfecta, Ichthyoses,
Chapter 1 AA and Follicular/Glandular Anomalies
Introduction
V. J. SELMANOWITZ
J. D. CONROY
I. INTRODUCTION
I shall resist the temptation to offer notable quotations by Derivatives of epithelial ectoderm include the epider-
foreseeing persons emphasizing the value and need for mis, cutaneous appendageal epithelium, and mucosa con-
comparative medical studies. However, it shall be sufficient tiguous with the skin. The cutaneous appendages include
to mention that the skin and mucocutaneous junctions offer pilosebaceous/apocrine and eccrine units and nails, claws,
an ideal terrain to serve as a meeting ground for compara- or hooves as the case may be.
tive studies of the biology and pathophysiology of this quite Neuroectoderm separates from integumentary ectoderm
accessible but wonderful, complicated, and variable organ. during embryogenesis. However, the derived nervous sys-
Human skin is characterized by an apparent paucity of tem continues to be integrally related to the development
pelage; its functions and adaptations are related to this and sustenance of the skin. Studies of the skin of reptiles,
nakedness. Animal skin not only serves as a protective en- amphibians, and chicks have demonstrated that factors ex-
velope from physical and chemical injury but it also ternal to the skin control differentiation of surface character
functions as a means of communication, locomotion, or- and patterning of pigmentation and appendages. These fac-
namentation, and secretion of substances which attract or tors relate to nerves and their distribution.
repel other organisms. Aberrant developments (dysplasias) have been recog-
Part IX is devoted to spontaneous animal models of nized in a broad spectrum of neurocutaneous syndromes.
human cutaneous disease. The study of spontaneous disor- An example of a neurocutaneous syndrome in human be-
ders of lower animals often provides information that is ings is the Sjögren-Larsson syndrome where ichthyosis oc-
more relevant to human disease than can be obtained by curs in conjunction with mental retardation and spasticity.
evaluating experimentally induced disease in animals. The Ectodermal dysplasias can affect vision, hearing, and ol-
diseases in this part include both hereditary and acquired faction. Corneal epithelium, lens, components of the ciliary
conditions of the epidermis, folliculoglandular appendages, process and iris, tympanic membrane, and sensory epi-
dermis, and subcutaneous fat. thelia of auditory and olfactory organs are derived from
The etiopathogenesis of the diseases characterized in- ectoderm. Associated dental defects can reflect ectodermal
clude abberrant development (dysplasia), chemical irrita- origin of enamel.
tion and hypersensitivity, self-trauma, autoimmunity, an- The neural crest begins as a strip of specialized ectoderm
drogenetic disorders, metabolic disturbances, and several flanking each side of the neural plate. The crest is the
idiopathic degenerative, inflammatory, and pigmentary source of melanocytes, spinal and autonomic ganglia cells,
disorders. Schwannian nerve sheath cells (neuroectoderm), and
mesenchyme (mesectoderm)—all of which have anatomic
bearing on the skin—and of the meninges of the brain,
tooth papillae, adrenal medulla, and cartilages. Among the
representatives of neural crest syndromes are von
Recklinghausens disease (neurofibromatosis) and len-
tiginosis profusa. Human findings in the former include
melanotic pigmentations (cafe-au-lait-spots), cutaneous and
internal tumors of neuroectodermal origin (mainly
neurofibromas), skeletal malformations, and adrenal
pheochromocytoma. Neurofibromatosis can be found in the
animal kingdom from quadruped mammals (e.g., dogs) to
3
