Table Of ContentThierry Passeron · Jean-Paul Ortonne
Atlas of
Pigmentary
Disorders
Thierry Passeron Jean-Paul Ortonne
This publication has been made possible through an educational
grant from Galderma.
ISBN 978-3-319-10896-4 ISBN 978-3-319-10897-1 (eBook)
DOI 10.1007/ 978-3-319-10897-1
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CONTRIBUTORS
Robert Baran Sendhil Kumaran
MD, Honorary Professor of the University of Franche- MD, Assistant Professor
Comté Department of Dermatology
Nail Disease Centre, Cannes, France PGIMER - Chandigarh.
Jean-Philippe Lacour
Philippe Bahadoran MD, Professor
MD, PhD. Department of Dermatology & Centre de Department of Dermatology University hospital of Nice,
Recherche Clinique (CRC), University Hospital of Nice, France
France
Jean-Jacques Morand
Christine Chiaverini MD, Professor
MD, PhD. Hopital d’Instruction des Armées SAINTE ANNE, Toulon,
Department of Dermatology University Hospital of Nice, France
France
Amit G Pandya
Sai Yee Chuah MD, Professor
MB ChB (Glasgow), MRCP (UK), MRCPS (Glasgow), Department of Dermatology
Diploma in Dermatology (RCPSG) University of Texas Southwestern Medical Center
Associate Consultant, National Skin Centre, Singapore Dallas, Texas, USA
Luc Duteil Davinder Parsad
PhD. Centre de Pharmacologie Clinique Appliquée à MD, Additional Professor, Dermatology, PGIMER
la Dermatologie (CPCAD), University hospital of Nice, Chandigarh, India
France Professor of Dermatology
University of Rome ‘G.Marconi’, Rome, Italy
Khaled Ezzedine
MD, PhD Kevin Queille
Service de Dermatologie et Dermatologie Pédiatrique, MEng. Centre de Pharmacologie Clinique Appliquée à
Centre de Référence pour les maladies rares de la peau, la Dermatologie (CPCAD), University Hospital of Nice,
CHU de Bordeaux, France France
Chee Leok Goh Michelle Rodrigues
MD, MBBS, M.Med (Int. Med), MRCP (UK), FRCP (Edin), MBBS (Honours) FACD
FAMS Consultant Dermatologist, Department of Dermatology
Senior Consultant, National Skin Centre, Singapore St. Vincent’s Hospital, Fitzroy, Victoria, Australia
The Royal Children’s Hospital, Parkville, Victoria, Australia
Arun C Inamadar The Skin and Cancer Foundation Inc. Carlton, Victoria,
MD, DVD, FRCP (Edinburgh) Australia
Professor & Head
Department of Dermatology Alain Taïeb
Sri BM Patil Medical College Hospital Service de Dermatologie et Dermatologie Pédiatrique,
BLDE University Centre de Référence pour les maladies rares de la peau,
Bijapur, Karnataka state, India CHU de Bordeaux
INSERM 1035, Université de Bordeaux, France
Hee Young Kang
MD, PhD, Professor Nanja van Geel
Department of Dermatology MD, PhD
Ajou University School of Medicine Department of Dermatology
164, World Cup-ro, Yeongtong-gu, Ghent University Hospital
Suwon, 443-380, Korea De Pintelaan 185
9000 Ghent, Belgium
IIII
TABLE OF CONTENTS
The Mechanisms of Pigmentation Acquired hypermelanosis 25 Genetic hypermelanosis 77
Preface 1 Epidermal hypermelanosis 25 Reticulated hypermelanosis 77
Acquired bilateral telangiectatic macules 26 Dyschromatosis universalis hereditaria 78
Foreword 3 Acquired brachial cutaneous dyschromatosis 27 Epidermolysis bullosa with mottled pigmentation 80
Acquired pigmented macules on friction areas Galli- Galli and Dowling Degos disease 81
Pigmentary disorders: practical approach 4 in red hair patients 28 Kindler syndrome 82
Acromelanosis progressiva 29 Reticulated acropigmentation of Dohi 83
The pigmentary system 7 Addinson’s disease 30 Reticulated acropigmentation of Kitamura 84
Atrophoderma of Pierini et Pasini 31 Rothmund- Thomson syndrome 85
Measuring skin color and pigmentation Becker nevus 32
disorders 16 Café-a u-l ait spots 34 Lentiginosis 86
Carcinoid syndrome 35 Banayan- Riley- Ruvalcaba syndrome 87
Chikungunya 36 Carney complex 88
Cronkhite- Canada syndrome 37 Centrofacial lentigines 90
Cutaneous amyloidosis 38 Eruptive lentiginosis 91
Diffuse melanosis in malignant melanoma 39 Inherited patterned lentiginosis in black patients 92
Ephelides 40 Isolated generalized lentigines 92
Erythema ab igne 41 Laugier disease 94
Erythema dyschromicum perstans 42 Lentigo senilis et actinicus 96
Erythromelanosis follicularis faciei et colli 43 Lentigo simplex 97
Erythrose péribuccale pigmentaire of Brocq 44 LEOPARD syndrome 98
Genital melanosis 45 Partial unilateral lentiginosis
Genital melanosis associated with localized (agminated lentigines) 100
depigmentation 46 Peutz-J egger syndrome 101
H syndrome 47 PUVA lentigines 102
Hyperpigmented macules on the face
of young children 48
Syndromes associated with Café- au- lait spots 103
Idiopathic eruptive macular pigmentation 49
Legius syndrome 104
Linea fusca 50
McCune-Albright syndrome 105
Lichen planus pigmentosus 51
Neurofibromatosis 107
Macular arteritis 53
Morphea and scleroderma 54
Localized hypermelanosis 109
Pellagra 56
Congenital melanotic macules of the tongue 110
Periorbital hyperpigmentation 57
Hartnup disease 111
Periungueal hyperpigmentation of the newborns 58
Incontinencia pigmenti 112
Phytophotodermatosis 59
Linear and whorled nevoid hypermelanosis 114
Poikiloderma of Civatte 60
Nevus spilus 115
Porphyria cutanea tarda 61
Pigmentary demarcation lines 117
Postinflammatory pigmentation secondary to acne 62
Riehl’s melanosis 63
Premature aging syndromes 118
Socks line pigmentation 64
Xeroderma pigmentosum 119
Transient neonatal pustular melanosis 65
Universal acquired melanosis 66
Congenital dermal hypermelanosis 120
Urticaria pigmentosa 67
Mongolian spots 121
Nevus of Ito 122
Acquired dermal hypermelanosis 69
Nevus of Ota 123
ABNOM 70
Phakomatosis pigmentovascularis 124
Other acquired dermal hypermelanocytosis 71
Phakomatosis pigmentokeratotica 125
Phakomatosis pigmento- pigmentaria 126
Melasma 72
Physiologic pigmentation in black skin 127
Smoker’s melanosis 75
IV
Acquired hypomelanosis 129 Genetic hypomelanosis 184 Non-melanic pigmentary disorders 205
Vitiligo 130 Generalized hypomelanosis 184 Hemoglobinopathies and vascular disorders 205
Chediak-H igashi syndrome 185 Anemia and polycythemia 206
Melanoma associated- vitiligoid Griscelli-P runieras syndrome 186 Bier spots 207
depigmentation 136 Hermansky- Pudlak syndrome 188 Nevus anemicus 208
Oculocutaneous albinisms 190 Woronoff ring 209
Vogt- Koyanagi Harada syndrome 138 Piebaldism 192
Waardenburg syndrome 194 Xanthodermia 210
Infectious hypomelanosis 140 Carotenemia 211
Endemic trepanomatoses Localized hypomelanosis 196 Jaundice 212
(Pian, Bejel, Pinta) 141
Cole disease 197
Herpes 142
Mosaicisms: Hypomelanosis of Ito 198 Tattoos 213
Kala- Azar 144
Mosaicisms: Other mosaicisms with hypomelanosis 199
Leprosy 145
Multiple endocrine neoplasia, MEN1 200 Heavy metal depositions 216
Oncocercosis 147
Nevus depigmentosus 201 Argyria 217
Syphilis 148
Tuberous sclerosis complex 203 Chrysiasis 218
Tinea versicolor 150
Hemochromatosis 219
Hemosiderosis and siderosis 220
Inflammatory hypomelanosis 151
Pigmentation to amiodarone 222
Atopic dermatitis 152
Pigmentation to clofazimine 223
Discoid lupus 153
Pigmentation to minocycline 224
Lichen sclerosus atrophicus 155
Plumbism 225
Mucinosis 156
Mycosis fungoides 157
Ochronosis 226
Pityriasis alba 159
Alkaptonuria 227
Pityriasis lichenoides 160
Exogenous ochronosis 228
Psoriasis 161
Sarcoidosis 162
Dyskeratosis 230
Seborrheic dermatitis 163
Acanthosis nigricans 231
Systemic Scleroderma 164
Confluent and reticulated papillomatosus 233
Darier- White disease 234
Metabolic, nutrional and endocrine
Dermatosis papulosa nigra 236
hypopigmentations 166
Dyskeratosis congenita 237
Kwashiorkor 167
Ectodermal dysplasia 239
Ichtyosis 240
Iatrogenic hypopigmentations 168
Melanoacanthoma 241
Cosmetic use of skin bleaching products 169
Prurigo pigmentosa 242
Iatrogenic hypopigmentations secondary
to pharmacological agents 171 Seborrheic keratosis 243
Iatrogenic hypopigmentations secondary
to physical or toxic agents 173 Sweat discoloration 244
Chromhidrosis 245
Miscellanous hypomelanosis 174 Pseudochromhidrosis 245
Idiopathic guttate hypomelanosis 175
Leukoderma punctata 177 Other 247
Progressive macular hypomelanosis of the trunk 178 Dirt pigmentation 248
Extracutaneous hypomelanosis 179
Drug-induced discoloration 249
Alopecia areata 180
Senile canities 182
Sudden whitening of the hair 183
Nail discoloration 254
V
THE MECHANISMS OF PIGMENTATION
PREFACE
Pigmentation is a complex and tightly regulated process shaped by thousands of years of evolu-
tion of the human kind. The color of the skin results from a subtle blend of pigments with variations
linked to hemoglobin derivatives, quantitative and qualitative changes of melanin, thickness of the
epidermis and abnormal presence of endogenous or exogenous pigments. Dyschromia is there-
fore the only or the main clinical sign of many dermatoses. Beyond usually well-known pigmentary
disorders such as vitiligo or melasma, many other conditions present with pigmentary changes of
the skin, hairs, nails, or mucous membranes. These pigmentary changes can be the manifesta-
tion of genetic defects and bring critical information for their diagnosis. They can be associated
with systemic diseases or be limited to a disorders restricted to the skin. They may result from
inflammatory, metabolic, infectious, tumor, toxic or iatrogenic causes. Being a window to genetic
defects or systemic diseases, or limited only to a skin problem, these pigmentary changes have a
frequent impact on the quality of life of affected individuals. Some of these pigmentary disorders
are rare but many others, although often unrecognized, are quite frequent and must be known by
physicians in order to provide adapted care.
Beyond the necessity to recognize these pigmentary disorders, their vast numbers and the
diversity of their presentation can be an obstacle for making a proper diagnosis, even in trained
dermatologists. Only a small number of pigmentary diseases are usually described in books or
atlases for general dermatology. Yet, among all dermatological diseases, pigmentary disorders are
probably the most appropriate to be fully described in a color atlas. Here, we have tried to gather
pictures from most pigmentary disorders, from the most common ones to the rarest, emphasi-
zing all their clinical presentations to help any physicians with recognition. After an introduction
to the pigmentary system that will help our readers to understand the mechanisms involved in
pigmentary changes, we propose a very practical approach to making proper diagnoses. The
actual tools that can be used for evaluating pigmentary disorders are also described. An almost
exhaustive description of pigmentary disorders is then proposed. Using a diagnostic approach,
they are classified into acquired and genetic hyper- and hypomelanosis, drug-induced discolora-
tion, non-melanic pigmentary disorders, and discoloration affecting the nails. Along with a rich
color illustration for each disease, we synthesize the main information on epidemiology, gene-
tics (if appropriate), pathophysiology, clinical dermatological presentation, extra-cutaneous signs,
histopathology, differential diagnoses and treatment options. Key references are also provided for
readers who would like to obtain further information on specific disorders.
We would like to thank all the contributors who shared their knowledge in the pigmentary field
and provided synthetic descriptions of disorders. We would also like to thank our colleagues from
around the world who kindly provided pictures of very rare conditions, allowing us to compile this
unique collection of illustrations of common but also very rare pigmentary disorders.
We designed this atlas to be useful for students and trained physicians, not only dermatologists
but also for general practitioners, geneticists, pediatricians, and everyone with a special interest in
some aspect of pigmentation. We hope that this work will be helpful for them in this exciting field of
pigmentation.
Thierry Passeron & Jean-Paul Ortonne
(cid:2)SpringerInternationalPublishingSwitzerland2016 1
T.PasseronandJ.-P.Ortonne,AtlasofPigmentaryDisorders,DOI10.1007/978-3-319-10897-1_1
This publication has been made possible through an educational grant from Galderma.
Thierry Passeron (&)
Department of Dermatology and INSERM U1065,
University Hospital of Nice,
Nice, France
e-mail:[email protected]
2
FOREWORD
The skin has many special features. It is essential for life; as are just a few other organs, like the
heart, lungs, and liver. But uniquely it is the most beautiful organ of the body. Everyone desires a
perfect complexion whether their skin is very light, medium, or dark in color. The skin is subject to
so many extraneous and intrinsic factors that can alter its color and make it lighter or darker than
normal or produce hyper- or hypopigmented spots. Besides being disfiguring, the abnormalities
can be important or critical clues to identifying exposures to noxious environmental agents or to
worrisome internal disorders.
Although these problems affecting the skin are ubiquitous, the biology and clinical science of
pigmentation are not commonly taught in many dermatology training programs and never
in programs for non-dermatologist health care workers. Searching through a textbook with
a soupçon of photographs showing skin discolorations is time consuming and frustrating. The
author/editors of this Atlas of Pigmentary Disorders have put together literally a compilation of all
the known and described pigmentary disorders, along with their clinical appearance and photo-
graphs. For each pigmentary disorder there is a concise description and information about its
known genetics, pathophysiology, histology and treatment. Although these are brief, they are
accompanied by several pertinent references. With this information, the clinician scholar can
delve into all the other available textbooks, reference books and of course the online literature for
additional information.
This atlas belongs on the desk of every dermatologist, general physician, pediatrician and all
others involved in direct patient care. It will resolve so many diagnostic and therapeutic dilemmas
presented by patients desiring a perfect complexion, a solution to a skin disorder or an explana-
tion for an internal problem. It will be one of the most useful books on a health care worker’s desk.
James J. Nordlund, MD
3
PIGMENTARY DISORDERS: PRACTICAL APPROACH
The color of the skin results from the presence of pigments in the epidermis and in the dermis.
The melanins (eumelanin, dark brown, mostly produced by dark skin types, and pheomelanin, red-fair
brown, mostly observed in fair skin types) are the most important pigments in human skin. However,
other endogenous pigments such as hemoglobin and bilirubin also play a role in the color of the
teguments.
Dyschromia can result from a darkening, a lightening, and the occurrence of an unusual skin color.
Quantitative or qualitative defects in the production, or in the deposition of melanin, explain most
of the pigmentary disorders. However, abnormal variations of other endogenous pigments and
deposit of exogenous pigments also lead to dyschromic lesions. Those pigmentation disorders
can be inherited or acquired.
HYPERMELANOSIS
An increased amount of melanin in the skin is called hypermelanosis or melanoderma. A brown
hypermelanosis is caused by excessive amounts of melanin within the epidermis, whereas ceru-
loderma (or blue hypermelanosis) results from large amounts of melanin in the dermis. Mixed
hypermelanosis, which is characterized by an excess of melanins in both epidermis and dermis,
may also occur. Epidermal hypermelanosis may result from increased melanin production by a
quantitatively normal melanocyte density in the epidermis (melanotic hypermelanosis), or by
an increased number of epidermal melanocytes (melanocytic hypermelanosis). Dermal hyper-
melanosis can be due to the production of melanin by ectopic dermal melanocytes (dermal
melanocytosis), or to an abnormal transfer of melanin from epidermal cells to the dermis (pigmen-
tary incontinence). In this situation, melanin granules accumulate within melanophages, or may
be free in the extracellular matrix of the dermis.
LEUKODERMA
Skin lightening or whitening (leukoderma, hypopigmentation) is most commonly the result of
decreased melanin content in the skin (hypomelanosis). Epidermal hypomelanosis may be the
result of at least two different pathogenic mechanisms:
• partial or total absence of epidermal melanocytes (melanocytopenic hypomelanosis);
• defect in melanin synthesis, in melanosome biogenesis, or in transport or transfer of melano-
somes despite a normal number of epidermal melanocytes (melanopenic hypomelanosis).
Increases of epidermal turnover, or increased degradation of the melanin contained within kerati-
nocytes can also induce hypomelanosis.
NON-MELANIC PIGMENTARY DISORDERS
Dyschromia may result from variation of the hemoglobin content within the skin (diffuse such as
in anemia or in polycythemia, or localized such as in Bier spots).
Xanthoderma describes a yellow to orange macular discoloration of the skin. Jaundice and carote-
noderma are the two main causes of xanthoderma.
Heavy metals (eg, iron, silver, gold, etc), and traumatic, medical, or esthetical tattoos are other
sources of skin discoloration.
An increased thickness of the epidermis can lead to diffuse, patchy or reticulated light to dark
brown hyperpigmentation.
The chronic avoidance of washing can also induce hyperpigmented and sometimes keratotic
patches.
Finally, the discoloration of the skin cannot only be due to pigment abnormality within the skin,
but also to an abnormal coloration of the sweat (called chromhidrosis or pseudo chromhidrosis).
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