Atlas of genodermatoses:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Boca Raton ; London ; New York
CRC Press
[2015]
|
| Ausgabe: | Second edition |
| Schlagworte: | |
| Online-Zugang: | Klappentext Inhaltsverzeichnis |
| Beschreibung: | XVII, 553 Seiten Illustrationen, Diagramme |
| ISBN: | 9781466598355 |
Internformat
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| 245 | 1 | 0 | |a Atlas of genodermatoses |c Gianluca Tadini, Michela Brena, Carlo Gelmetti, Lidia Pezzani |
| 250 | |a Second edition | ||
| 264 | 1 | |a Boca Raton ; London ; New York |b CRC Press |c [2015] | |
| 300 | |a XVII, 553 Seiten |b Illustrationen, Diagramme | ||
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Datensatz im Suchindex
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| adam_text | ATLAS OF
GENODERMATOSES
SECOND EDITION
This generously illustrated guide to almost 200 inherited diseases of the skin, hair, and nails is a comprehensive
but easy-to-use reference tool. The entry for each condition details synonyms, age of onset, clinical findings,
complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just
a collection of clinical photographs. This new edition rewrites the classification of some diseases, adds some newly
described conditions, and updates the information with the latest molecular genetic studies and references.
About the Authors:
Gianluca Tadini, Michela Brena, Carlo Gelmetti, and Udia Penani are physicians at the Center for Inherited Skin
Disorders, Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS
Ca Granda-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Contents
Foreword ix
Preface xi
Acknowledgments xiü
Illustration credits xv
1 Epidermolysis bullosa 1
Definition 1
Epidemiology 2
Epidermolytic epidermolysis bullosa 2
Junctional epidermolysis bullosa 8
Dermolytic epidermolysis bullosa 14
Kindler syndrome 20
2 Acantholytic diseases 23
Darier disease 23
Hailey-Hailey disease 27
3 Ichthyoses 31
Non-syndromic ichthyoses 31
Autosomal recessive congenital ichthyoses 36
Keratinopathic ichthyoses 46
Loricrin keratoderma 54
KLICK syndrome 54
Erythrokeratoderma variábilis 56
Progressive symmetric erythrokeratoderma 57
Pityriasis rotunda 59
Ichthyosis cribriformis 61
Peeling skin syndromes 62
Keratolytic winter erythema 64
Syndromic ichthyoses 65
Other syndromic ichthyoses 78
4 Palmoplantar keratodermas 89
Epidermolytic palmoplantar keratoderma 89
Keratoderma hereditaria mutilans 9I
Loricrin keratoderma 93
Greither disease 94
Olmsted syndrome 95
Papillon-Lefevre syndrome 97
Huriez syndrome 98
Mal de Meleda 100
Punctate palmoplantar keratoderma 102
Striate keratoderma I04
Richner-Hanhart syndrome IO5
iii
iv Contents
Painful callosities 107
Pachydermoperiostosis 108
Acrokeratoelastoidosis 109
Naxos-Carvajal syndromes 110
Cole disease 112
Palmoplantar keratoderma-congenital alopecia syndrome 114
5 Other disorders of keratinization 115
Porokeratoses 115
Kyrle’s disease 118
Pity riasis rubra pilaris 120
6 Poikilodermas and aging syndromes 123
Disorders of DNA repair 123
Aging syndromes 134
Laminopathies 139
7 Hair diseases 145
Marie-Unna hypotrichosis 145
Hypotrichosis simplex of the scalp 146
Alopecia areata 147
Ulerythema ophryogenes 148
Triangular alopecia 150
Hypotrichosis with juvenile macular dystrophy 151
Localized hypotrichosis 152
Hereditary hypotrichosis and recurrent skin vesicles 152
Wooclehouse-Sakati syndrome 153
Hy pertrichosis congenita 155
Ambras syndrome 156
Localized hypertrichosis 158
Zimmermann-Laband syndrome 159
Monilethrix 160
Pili annulati 162
Pili torti l63
Woolly hair 165
Uncombahle hair syndrome 166
Silvery hair syndrome 167
Menkes syndrome I69
Atrichia with papular lesions 171
Loose anagen syndrome 172
8 Nail disorders 173
Pachyonychia congenita 173
Nail-patella-ellxnv syndrome 176
Twenty-nail dy strophy 177
Malalignment of the great toenails 178
Leukonychia 179
Pterygium invcrsum of nails 180
Lso-Kikuehi syndrome 181
9 Sebocystomatosis 183
Sebocystomatosis 183
10 Oral mucosa 185
White sponge hyperplasia of the mucosa 185
Oral-facial-digital syndrome type 1 186
11 Neurocutaneous syndromes 189
Neurofibromatosis type 1 189
Noonan syndrome 200
Contents V
Cardio-facio-cutaneous syndrome 201
Costello syndrome 202
LEOPARD syndrome 204
Neurofibromatosis type 2 206
Tuberous sclerosis 208
12 Epidermal nevi and epidermal nevus syndromes 217
Introduction 217
Epidermal nevi and related syndromes 217
Phakomatosis pigmentokeratotica 227
Waxy keratosis 230
PENS syndrome 232
PEODDN 235
Nevoid follicular mucinosis 237
CHILD syndrome 238
13 Ectodermal dysplasias and related disorders 241
Ectodermal dysplasias 241
Hypohidrotic ED 241
p63-related ectodermal dysplasias 248
Tricho-dento-osseous syndrome 252
Witkop syndrome 254
Ellis-van Creveld-Weyers acrofacial dysostosis complex 255
Nectinopathies 256
Connexins-related syndromes 258
Ectodermal dysplasia-skin fragility syndrome 263
Pure hair-nail ectodermal dysplasia 264
Trichorhinophalangeal syndrome 266
Allgrove syndrome 267
Incontinentia pigmenti 269
Goltz syndrome 274
MIDAS syndrome 277
Naegeli-Franceschetti syndrome 278
X-linked reticulate pigmentary disorder with systemic manifestations (XLRPD) 280
14 Disorders of connective tissue 283
Ehlers-Danlos syndromes 283
Cutis laxa syndromes 294
Pseudoxanthoma elasticum 299
Urbach-Wiethe disease 302
Marfan syndrome 304
Loeys-Dietz syndrome 306
Arterial tortuosity syndrome 308
Stickier syndrome 309
Connective tissue nevi 310
Buschke-Ollendorff syndrome 312
Elastosis perforans serpiginosa 313
Michelin tire baby 314
Juvenile hyaline fibromatosis 315
Cutaneous mastocytosis 317
Cutaneous leiomyomatosis 318
Dermochondrocorneal dystrophy 319
GNAS-related syndromes: osteoma (osteomatosis) cutis, progressive osseous heteroplasia,
Albright’s hereditary osteodystrophy 321
Cutis verticis gvrata 323
15 Fatty tissue anomalies 325
Launois-Bensaude syndrome 325
Total lipodystrophy 326
VI Contents
Partial lipodystrophy 528
Lipomas, familial multiple lipomatosis and nevus lipomatosus 329
16 Aplasia cutis 331
Aplasia cutis 331
Adams-Oliver syndrome 335
17 Disorders of pigmentation 337
Oculocutaneous albinisms 337
X-Linked ocular albinism 343
Hermansky-Pudlak syndrome 344
Cross syndrome 346
Hypomelanosis of Ito 347
Piebaldism 348
Waardenburg syndrome 350
McCune-Albright syndrome 351
Linear and figurated hypo- and hyper-pigmented nevi 353
Melanocytic nevi and related syndromes 356
Segmental lentiginosis 358
Ota nevus 361
Cutis tricolor 362
Dyschromatosis symmetrica hereditaria 364
18 Vascular disorders 365
Fast-flow malformations 365
Slow-flow malformations 369
Other syndromes with prominent vascular signs 376
Lymphatic malformations and lymphedema syndromes 390
Generalized cyanosis, phlebectases and soft skin syndrome 393
Hemangioma syndromes 395
CADASIL 397
19 Metabolic diseases 399
Porphyria cutanea tarda and hepatoerythropoietic porphyria 399
Erythropoietic protoporphyria 402
Congenital erythropoietic porphyria 404
Hereditary coproporphyria and harderoporphyria 407
Variegate porphyria 409
Acrodermatitis enteropathica 410
Fabry disease 412
Sea-blue histiocytosis 414
Cerebrotendinous xanthomatosis 416
Prolidase deficiency 418
Methylmalonic aciduria 419
Alkaptonuria 421
20 Complex malformative syndromes with distinctive cutaneous signs 423
Rubinstein-Taybi syndrome 423
Cornelia de Lange syndrome 425
Cohen syndrome 427
Branchio-oculofacial syndrome 428
Barber-Say syndrome 430
Turner syndrome 432
Down syndrome 434
Pallister-Killian syndrome 434
Encephalocraniocutaneous lipomatosis 436
G A PC) syndrome 438
Cantu syndrome 439
Apert syndrome 441
Contents vii
H syndrome 442
Poland syndrome 444
Kabuki syndrome 445
Primary intestinal lymphangiectasia 447
Congenital insensitivity to pain 448
Primary cutaneous amyloidosis 45O
Frank-Ter Haar-Borrone syndrome 451
Familial comedones 453
21 Immunodeficiency disorders 455
Primary immunodeficiency syndromes 455
Ataxia-telangiectasia 455
Chediak-Higashi syndrome 458
Cartilage-hair hypoplasia 459
Chronic granulomatous disease 460
Chronic mucocutaneous candidiasis 461
APECED syndrome 462
Hyper-IgE syndromes 463
Hereditary angioedema 465
Omenn syndrome-severe combined immunodeficiencies 466
Common variable immunodeficiency 468
Wiskott-Aldrich syndrome 469
Immunoglobulin deficiencies 47O
Cyclic neutropenia 472
Leukocyte adhesion deficiencies 473
DiGeorge syndrome 473
Fanconi anemia 474
22 Autoinflammatory diseases 477
Familial chilblain lupus 477
Aicardi-Goutières syndrome 479
Monogenic autoinflammatory diseases 481
23 Overgrowth syndromes 485
Proteus syndrome 485
CLOVES syndrome 487
Beckwith-Wiedemann syndrome 489
CLAPO syndrome 490
Klippel-Trénaunay syndrome 491
Macrocephaly-capillary malformation syndrome 491
24 Genodermatoses related to malignancy 493
Basal cell carcinoma syndrome 493
Constitutional mismatch repair-deficiency syndromes 496
PTEN hamartoma syndrome 498
Gardner syndrome 501
Bloom’s syndrome 303
Howel-Evans syndrome 504
Multiple endocrine neoplasia syndromes 505
Peutz-Jeghers syndrome 507
Birt-Hogg-Dubé syndrome 509
Carney complex 511
Bazex-Dupré-Christol syndrome 512
Epidermodysplasia verruciformis 514
Brooke-Spiegler syndrome 515
Progressive mucinous histiocytosis 517
Degos disease 518
Rombo syndrome 520
viii Contents
25 Cutaneous mosaicism 521
Definition 521
Pattern of clinical presentation of mosaicism 521
The phenomenon of twin-spots 527
Mechanisms of inheritance of mosaicism 529
26 Genodermatoses in dark skin 535
Index
543
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| isbn | 9781466598355 |
| language | English |
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| spelling | Atlas of genodermatoses Gianluca Tadini, Michela Brena, Carlo Gelmetti, Lidia Pezzani Second edition Boca Raton ; London ; New York CRC Press [2015] XVII, 553 Seiten Illustrationen, Diagramme txt rdacontent n rdamedia nc rdacarrier Genodermatose (DE-588)4301932-8 gnd rswk-swf Genodermatose (DE-588)4301932-8 s DE-604 Tadini, Gianluca Sonstige oth Brena, Michela Sonstige oth Gelmetti, Carlo Sonstige oth Pezzani, Lidia Sonstige oth Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=028370906&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Klappentext Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=028370906&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Atlas of genodermatoses Genodermatose (DE-588)4301932-8 gnd |
| subject_GND | (DE-588)4301932-8 |
| title | Atlas of genodermatoses |
| title_auth | Atlas of genodermatoses |
| title_exact_search | Atlas of genodermatoses |
| title_full | Atlas of genodermatoses Gianluca Tadini, Michela Brena, Carlo Gelmetti, Lidia Pezzani |
| title_fullStr | Atlas of genodermatoses Gianluca Tadini, Michela Brena, Carlo Gelmetti, Lidia Pezzani |
| title_full_unstemmed | Atlas of genodermatoses Gianluca Tadini, Michela Brena, Carlo Gelmetti, Lidia Pezzani |
| title_short | Atlas of genodermatoses |
| title_sort | atlas of genodermatoses |
| topic | Genodermatose (DE-588)4301932-8 gnd |
| topic_facet | Genodermatose |
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