Vitiligo and Other Hypomelanoses of H air and Skin

Transcription

1 Vitiligo and Other Hypomelanoses of H air and Skin

2 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

3 Vitiligo and Other Hypomelanoses of 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

4 Library of Congress Cataloging in Publication Data Ortonne, Jean-Paul, 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 v] RL ISBN-13: DOl: / e-isbn-13: Plenum Publishing Corporation Softcover reprint of the hardcover 1st edition Spring Street, New York, N.Y 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

5 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

6 Preface Leukoderma is a generic term for any pigmentary dilution, be it congenital or acquired, circumscribed or generalized, devoid of or partially lacking in pigmentation. In the approach to the diagnosis of leukoderma, we have generally first considered the age of onset, whether leukoderma was congenital or acquired, the extent and pattern of involvement, and the degree of pigmentary dilution. The organization of this monograph reflects this approach. For example, 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 clinical-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 macules are usually pure white. However, in the melanopenic leukodermas, melanocytes 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

7 viii PREFACE have to be considered. Per contra, a melanopenic leukoderma that is acquired and circumscribed would include tinea versicolor, postinfiammatory hypomelanosis, leprosy, sarcoidosis, and idiopathic guttatehypomelanosis. Melanopenic 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 disordersthese 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 "melanopenic" and "melanocytopenic," the tables, descriptive paragraphs, clinical photographs, and photomicrographs provide corresponding bases for the new terms which designate clinical-pathologic findings. Jean-Paul Ortonne David B. Mosher Thomas B. Fitzpatrick

8 Contents PART I. SKIN COLOR AND THE MELANIN PIGMENTARY SYSTEM 1 Melanins Epidermal Dendritic Cells Origin of Melanocytes Biologic Basis of Melanin Pigmentation Race, Light, Age, and Melanocytes Factors Controlling Pigmentation References PART II. APPROACH TO THE PROBLEM OF LEUKODERMA History Physical Examination Histology and Electron Microscopy Pathogenesis Reference PART III. HYPOMELANOTIC DISORDERS Chapter 1. Genetic and Congenital Disorders Section 1. Disorders with Features of Oculocutaneous Albinism Introduction Tyrosinase-Negative Oculocutaneous Albinism Tyrosinase-Positive Oculocutaneous Albinism Yellow-Mutant Oculocutaneous Albinism Hermansky-Pudlak Syndrome Chediak-Higashi Syndrome Albinism and Immunodeficiency Cross-McKusick-Breen Syndrome Oculocutaneous Albinoidism Ocular Albinism ix

9 x CONTENTS Abnormalities of the Optic Pathway in Albinism Other Defects in Albinos Differential Diagnosis Treatment of Albinism References Section 2. Disorders with Relative Generalized Decreased Pigmentation Copper Deficiency Histidinemia Phenylketonuria Disorders of Methionine Metabolism Tietz Syndrome References Section 3. Disorders with Circumscribed Hypomelanosis Vitiligo References Piebaldism References Waardenburg Syndrome References Piebaldism with Deafness (Woolf Syndrome) References Ziprkowski-Margolis Syndrome References Tuberous Sclerosis References Nevus Depigmentosus References Incontinentia Pigmenti Achromians References Incontinentia Pigmenti References Ataxia-Telangiectasia References Xeroderma Pigmentosum References Neurofibromatosis References Dyschromatosis Symmetrica; Dyschromatosis Universalis Hereditaria References Hypopigmented Markings in Dark-Skinned People: Pigmentary Demarcation Lines References

10 Other Miscellaneous Syndromes Darier-White Disease Autosomal Recessive Deafness Associated with Vitiligo (Rozycki Syndrome) Focal Dermal Hypoplasia Syndrome Hypopigmentation with Punctate Kp.ratosis of the Palms and Soles Hypomelanoses in Possible Ectodermal Dysplasia Syndromes References xi CONTENTS Section 4. Disorders Affecting Hair Pigmentation without Affecting Skin Pigmentation Premolar Aplasia, Hyperhidrosis, and Canities Prematura 461 Fanconi Syndrome Rothmund-Thomson Syndrome Dystrophia Myotonica Premature Aging Syndromes Werner Syndrome (Pangeria) Hutchinson-Gilford Syndrome (Progeria) Fisch Syndrome Kappa Chain Deficiency Hereditary Premature Canities Bird-Headed Dwarfism (Seckel Syndrome) Treacher Collins Syndrome, Pierre Robin Syndrome, Hallerman-Streiff Syndrome, Down Syndrome, Chromosome Five p-syndrome Prolidase Deficiency References Chapter 2. Hypomelanoses Associated with Nutritional and Metabolic Disorders Kwashiorkor Generalized Dyschromia in a Malnourished Infant Pigmentary Changes in the Hair of Patients with Nephrosis, Ulcerative Colitis, or Extensive Resection of the Gut Severe Iron Deficiency... " 470 Copper Deficiency Vitamin B12 Deficiency (Pernicious Anemia) References Chapter 3. Hypomelanosis Associated with Endocrine Disorders Hyperthyroidism Hypopituitarism

11 xii CONTENTS Addison Disease Cushing Syndrome Hypogonadism Hypoparathyroidism, Addison Disease, and Chronic Mucocutaneous Candidiasis Goiter and Paratertiary Butylphenol Depigmentation References Chapter 4. Hypomelanosis Secondary to Irradiation and Physical Trauma References Chapter 5. Chemical Hypomelanosis Phenolic Compounds Sulfhydryl Compounds Cinnamic Aldehyde Metals Hydrogen Peroxide Guanonitrofuracin Mephenesin Carbamate Triparanol (MER-29) Dinitrochlorobenzene (DNCB) Arsenic Nitrogen Mustard and Thiotepa Corticosteroids Butyrophenone Chloroquine Diphosphate Eserine Epinephrine Phototoxic Drugs References Chapter 6. Hypomelanosis Associated with Inflammation Eczematous Dermatitis and Atopic Dermatitis Lupus Erythematosus Achromic Guttate Parapsoriasis Psoriasis Pityriasis Alba References Chapter 7. Infectious and Parasitic Hypomelanosis Leprosy yaws Pinta Endemic Syphilis Leukoderma in Secondary Syphilis

12 Herpes Zoster Tinea Versicolor Onchocerciasis Post-Kala-Azar Dermatosis Tuberculosis References xiii CONTENTS Chapter 8. Leukoderma Acquisitum Centrifugum: Halo Nevus and Other Hypomelanoses Associated with Neoplasms Halo Nevus..., 567 Halo Phenomena around Lesions Other Than Nevus Cell Nevus Pathogenesis Diagnosis... " 606 Treatment References Chapter 9. Miscellaneous Hypomelanoses Sarcoidosis Idiopathic Guttate Hypomelanosis Macular Tropical Hypochromia Vogt-Koyanagi-Harada Syndrome Alezzandrini Syndrome Senile Graying of Hair Sudden Whitening of Hair Alopecia Areata Vagabond's Leukomelanoderma Heterochromia Irides and Horner Syndrome Hypomelanosis in Scleroderma References PART IV. LEUKODERMAS WITHOUT HYPOMELANOSIS Nevus Anemicus Edema of the Skin Anemia References INDEX...,

13 Vitiligo and Other Hypomelanoses of Hair and Skin

14 FIGURE 1. Components of skin color. Any variation in skin color arises from different ratios of blue, red, brown. and yellow. (From: Quevedo WC Jr: The control of color in mammals. Am Zool 9: Copyright American Society of Zoologists. Used with permission.)