Vitiligo and Other Hypomelanoses of Hair and Skin

692 Pages·1983·25.78 MB·English

by  Jean-Paul Ortonne M.D.

Vitiligo and Other
of
Hypomelanoses
H air and Skin
TOPICS IN DERMA TOLOGY
Series Editors: John A. Parrish and Thomas B. Fitzpatrick
Harvard Medical School, Boston, Massachusetts
VITILIGO AND OTHER HYPOMELANOSES OF HAIR AND SKIN
Jean-Paul Ortonne, David B. Mosher, and Thomas B. Fitzpatrick
Vitiligo and Other
of
Hypomelanoses
Hair and Skin
Jean-Paul Ortonne, M.D.
H6pital Pasteur
Centre Hospitalier Universitaire
Nice, France
David B. Mosher, M.D.
and
Thomas B. Fitzpatrick, M.D.
Massachusetts General Hospital
Harvard Medical School
Boston, Massachusetts
PLENUM MEDICAL BOOK COMPANY
New York and London
Library of Congress Cataloging in Publication Data
Ortonne, Jean-Paul, 1943-
Vitiligo and other hypo melanoses of hair and skin.
(Topics in dermatology)
Includes bilbiographical references and index.
1. Vitiligo. 2. Pigmentation disorders. I. Mosher, David B. II. Fitzpatrick,
Thomas B. III. Title. IV. Series. [DNLM: 1. Pigmentation disorders. 2. Skin
manifestations. WR 265 078v]
RL790.077 1982 616.515 82-16490
ISBN-13: 978-1-4615-9274-7 e-ISBN-13: 978-1-4615-9272-3
DOl: 10.1 007/978-1-4615-9272-3
© 1983 Plenum Publishing Corporation
Softcover reprint of the hardcover 1st edition 1983
233 Spring Street, New York, N.Y. 10013
Plenum Medical Book Company is an imprint of Plenum Publishing Corporation
All rights reserved
No part of this book may be reproduced, stored in a retrieval system, or transmitted
in any form or by any means, electronic, mechanical, photocopying, microfilming,
recording, or otherwise, without written permission from the Publisher
Acknowledgments
The authors wish to acknowledge the assistance of the many colleagues who
have inspired and assisted them in this endeavor. Particularly appreciated is
the editorial review of Dr. John A. Parrish and the assistance of Dr. Madhu A.
Pathak particularly in the areas of chemical leukoderma and vitiligo. Diane
Patry assisted with typing and copy preparation. We are particularly indebted
to Pat K. Novak for her tireless diligence as copy editor.
v
Preface
Leukoderma is a generic term for any pigmentary dilution, be it congenital or
acquired, circumscribed or generalized, devoid of or partially lacking in pig
mentation. In the approach to the diagnosis of leukoderma, we have generally
first considered the age of onset, whether leukoderma was congenital or ac
quired, the extent and pattern of involvement, and the degree of pigmentary
dilution. The organization of this monograph reflects this approach. For ex
ample, we have separated the section devoted to various disease entities into
diffuse and circumscribed leukoderma and the latter into various etiologies
such as genetic, metabolic, infectious, and endocrinologic.
One of several justifications for this monograph is to present an approach
to the diagnosis of leukoderma, as detailed in Part II. In formulating a guide
for the physician, we have found some limitations to our previous approach;
we therefore offer the following new classification based upon a clini
cal-pathologic correlation. This could provide the means to describe both the
clinical and pathologic findings in one term.
I. Melanocytopenic leukoderma (reduction or absence of melanocytes)
A. Vitiligo
B. Piebaldism
C. Chemical leukoderma
D. Waardenburg's syndrome
II. Melanopenic leukoderma (reduction or absence of melanin)
A. Albinism
B. White macule of tuberous sclerosis
C. Nevus depigmentosis
In the melanocytopenic leukodermas, melanocytes are absent and the mac
ules are usually pure white. However, in the melanopenic leukodermas, me
lanocytes are present, but there is a reduction of melanin, due to a defect in
melanosome formation, melanization of melanosomes, melanosome transfer,
or other process, so that mild to very marked pigmentary dilution is apparent.
Differential diagnosis of a melanocytopenic leukoderma that is congenital
and circumscribed would, for example, have to include piebaldism, whereas
if it were acquired and circumscribed, vitiligo and chemical leukoderma would
vii
viii have to be considered. Per contra, a melanopenic leukoderma that is acquired
and circumscribed would include tinea versicolor, postinfiammatory hypo
PREFACE
melanosis, leprosy, sarcoidosis, and idiopathic guttatehypomelanosis. Melano
penic leukoderma that is congenital and circumscribed would include the white
macules in tuberous sclerosis and nevus depigmentosis.
Most of the diffuse hypomelanoses are congenital melanopenic disorders
these include albinism and phenylketonuria. Diffuse hypomelanoses that are
exceptions include vitiligo universalis, which is an acquired melanocytopenia.
While this monograph itself does not embrace the newer terms "melano
penic" and "melanocytopenic," the tables, descriptive paragraphs, clinical pho
tographs, and photomicrographs provide corresponding bases for the new terms
which designate clinical-pathologic findings.
Jean-Paul Ortonne
David B. Mosher
Thomas B. Fitzpatrick
Contents
PART I. SKIN COLOR AND THE MELANIN PIGMENTARY SYSTEM 1
Melanins ............................................ . 3
Epidermal Dendritic Cells ............................ . 7
Origin of Melanocytes ................................ . 9
Biologic Basis of Melanin Pigmentation ................ . 11
Race, Light, Age, and Melanocytes ..................... . 20
Factors Controlling Pigmentation ...................... . 22
References ........................................... . 28
PART II. APPROACH TO THE PROBLEM OF LEUKODERMA ....... . 37
History .............................................. . 40
Physical Examination ................................ . 41
Histology and Electron Microscopy .................... . 51
Pathogenesis ......................................... . 54
Reference ............................................ . 56
PART III. HYPOMELANOTIC DISORDERS ....................... . 57
Chapter 1. Genetic and Congenital Disorders .............. . 59
Section 1. Disorders with Features of Oculocutaneous
Albinism ...................................... . 59
Introduction ......................................... . 59
Tyrosinase-Negative Oculocutaneous Albinism ......... . 65
Tyrosinase-Positive Oculocutaneous Albinism .......... . 69
Yellow-Mutant Oculocutaneous Albinism .............. . 74
Hermansky-Pudlak Syndrome ........................ . 75
Chediak-Higashi Syndrome ........................... . 79
Albinism and Immunodeficiency ...................... . 87
Cross-McKusick-Breen Syndrome .................... . 88
Oculocutaneous Albinoidism ......................... . 89
Ocular Albinism ..................................... . 89 ix
x Abnormalities of the Optic Pathway in Albinism ........ 92
Other Defects in Albinos. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 93
CONTENTS
Differential Diagnosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 93
Treatment of Albinism ................................ 93
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 95
Section 2. Disorders with Relative Generalized Decreased
Pigmentation ................................... 102
Copper Deficiency. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 102
Histidinemia .......................................... 107
Phenylketonuria ...................................... 109
Disorders of Methionine Metabolism .................... 119
Tietz Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 123
References ............................................ 123
Section 3. Disorders with Circumscribed Hypomelanosis .... 129
Vitiligo ............................................... 129
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 286
Piebaldism ........................................... 310
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 334
Waardenburg Syndrome ............................... 337
References .......................................... 364
Piebaldism with Deafness (Woolf Syndrome) ............ 369
References .......................................... 372
Ziprkowski-Margolis Syndrome ........................ 373
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 374
Tuberous Sclerosis .................................... 375
References .......................................... 396
Nevus Depigmentosus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 398
References .......................................... 410
Incontinentia Pigmenti Achromians .................... 411
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 426
Incontinentia Pigmenti ................................ 427
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 432
Ataxia-Telangiectasia .................................. 433
References .......................................... 435
Xeroderma Pigmentosum .............................. 435
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 438
Neurofibromatosis ..................................... 438
References .......................................... 440
Dyschromatosis Symmetrica; Dyschromatosis Universalis
Hereditaria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 440
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 444
Hypopigmented Markings in Dark-Skinned People:
Pigmentary Demarcation Lines . . . . . . . . . . . . . . . . . . . .. 444
References .......................................... 451
Other Miscellaneous Syndromes ...................... . 452 xi
Darier-White Disease ............................... . 452
CONTENTS
Autosomal Recessive Deafness Associated with Vitiligo
(Rozycki Syndrome) .............................. . 452
Focal Dermal Hypoplasia Syndrome ................... . 456
Hypopigmentation with Punctate Kp.ratosis of the Palms
and Soles ........................................ . 456
Hypomelanoses in Possible Ectodermal Dysplasia
Syndromes ...................................... . 460
References ........................................... . 46
Section 4. Disorders Affecting Hair Pigmentation without
Affecting Skin Pigmentation .................... . 461
Premolar Aplasia, Hyperhidrosis, and Canities Prematura 461
Fanconi Syndrome ................................... . 461
Rothmund-Thomson Syndrome ....................... . 462
Dystrophia Myotonica ................................ . 462
Premature Aging Syndromes .......................... . 462
Werner Syndrome (Pangeria) ........................ . 462
Hutchinson-Gilford Syndrome (Progeria) ............ . 463
Fisch Syndrome ..................................... . 464
Kappa Chain Deficiency .............................. . 464
Hereditary Premature Canities ......................... . 464
Bird-Headed Dwarfism (Seckel Syndrome) ............. . 465
Treacher Collins Syndrome, Pierre Robin Syndrome,
Hallerman-Streiff Syndrome, Down Syndrome,
Chromosome Five p-Syndrome .................... . 465
Prolidase Deficiency ................................. . 466
References ........................................... . 466
Chapter 2. Hypomelanoses Associated with Nutritional and
Metabolic Disorders ........................... . 467
Kwashiorkor .......................................... 467
Generalized Dyschromia in a Malnourished Infant . . . . . .. 469
Pigmentary Changes in the Hair of Patients with
Nephrosis, Ulcerative Colitis, or Extensive Resection
of the Gut . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 470
Severe Iron Deficiency ............................... " 470
Copper Deficiency ..................................... 470
Vitamin B12 Deficiency (Pernicious Anemia) ............. 471
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 471
Chapter 3. Hypomelanosis Associated with Endocrine
Disorders ...................................... 473
Hyperthyroidism ...................................... 473
Hypopituitarism ...................................... 473