Sybert: Genetic Skin Disorders 2nd Edition

Genetic Skin Disorders 2nd Edition by Virginia P. Sybert is not exhaustive or all-inclusive. It is meant to be a readable reliable guide to the diagnosis and differential of inherited skin disorders to which you can refer while the patient is still in your office. The annotated bibliographies contain many review papers, those from readily available journals and some that are so charming they should not be missed. Although other sources, including original descriptions and publications in languages other than English, have been used in the writing, the author have chosen to emphasize those references that contain interesting additional information that you can easily find if you are interested in further reading. The bibliographies of the cited articles can direct you further to more extensive sources.
This book is not meant to be an exhaustive review of every skin finding that has ever been reported to occur in more than one family member nor of every inherited syndrome that has ever shown dermatologic manifestations. For example, the rare occurrence of nevus of Ota in family members did not seem compelling enough to warrant its inclusion as a separate genetic condition. Down syndrome, Noonan syndrome, and Dubowitz syndrome, to name a few, are not included as separate entries because their dermatologic manifestations, while of interest, rarely lead to their diagnosis.

Contents
1. PRACTICAL INHERITANCE 1
2. DISORDERS OF THE EPIDERMIS: DIFFERENTIATION AND KINETICS 5

• Ichthyoses 5
• Bullous Congenital Ichthyosiform Erythroderma 6
• Continual Peeling Skin 11
• Harlequin Fetus 13
• Ichthyosis Bullosa of Siemens 17
• Ichthyosis Hystrix 19
• Ichthyosis Vulgaris 22
• Lamellar Exfoliation of the Newborn 25
• Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma 28
• Netherton Syndrome 32
• Restrictive Dermopathy 36
• X-linked Recessive Ichthyosis 39
• Erythrokeratodermas 43
• Erythrokeratodermia Variabilis 43
• Pityriasis Rubra Pilaris 46
• Progressive Symmetric Erythrokeratoderma 50
• Acrokeratoderma 52
• Acrokeratoelastoidosis 52
• Acrokeratosis Verruciformis (HOPF) 54
• Hereditary Palmoplantar Keratodermas 57
• Hereditary Palmoplantar Keratoderma with Deafness 58
• Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis 60
• Hereditary Palmoplantar Keratoderma Howel-Evans 63
• Hereditary Palmoplantar Keratoderma Olmsted 65
• Hereditary Palmoplantar Keratoderma Punctate 68
• Hereditary Palmoplantar Keratoderma Striata 71
• Hereditary Palmoplantar Keratoderma Unna-Thost 73
• Hereditary Palmoplantar Keratoderma Vohwinkel 77
• Keratolytic Winter Erythema 79
• Mal de Meleda 81
• Papillon-Lefèvre 83
• Scleroatrophic and Keratotic Dermatosis of the Limbs 87
• Porokeratoses 89
• Porokeratosis of Mibelli 89
• Other Disorders of the Epidermis 92
• Absence of Dermatoglyphics 92
• Acanthosis Nigricans 94
• Darier-White Disease 97
• Hereditary Painful Callosities 102
• Keratosis Follicularis Spinulosa Decalvans 104
• Knuckle Pads 108
• Kyrle/Flegel Disease 110
• Ulerythema Ophryogenes 112
• Syndromic Disorders 116
• CHILD Syndrome 116
• Chondrodysplasia Punctata 119
• Ichthyosis with Hypogonadism 125
• KID Syndrome 126
• Neu-Laxova Syndrome 130
• Neutral Lipid Storage Disease with Ichthyosis 132
• Refsum Disease 135
• Richner-Hanhart Syndrome 137
• Sjögren-Larsson Syndrome 139
• Cohesion 142
• Epidermolysis Bullosa 142
• Epidermolysis Bullosa Simplex Dowling-Meara 145
• Epidermolysis Bullosa Simplex Generalized 150
• Epidermolysis Bullosa Simplex Localized 152
• Epidermolysis Bullosa Junctional Generalized 155
• Epidermolysis Bullosa Junctional Generalized Atrophic Benign 159
• Epidermolysis Bullosa Dystrophica Cockayne-Touraine 163
• Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens 166
• Epidermolysis Bullosa Dystrophica Pretibial 170
• Transient Bullous Dermolysis of the Newborn 173
• Hailey-Hailey Disease 175

3. DISORDERS OF EPIDERMAL APPENDAGES 179

• Hair 179
• Alopecias 180
• Loose Anagen Hair 180
• Male Pattern Baldness 182
• Marie Unna Syndrome 184
• Hirsutism 189
• Gingival Fibromatosis and Hypertrichosis 189
• Hypertrichosis Lanuginosa Congenita 191
• Leprechaunism 196
• Localized Hypertrichosis 198
• Polycystic Ovarian Disease 200
• Hair Shaft Abnormalities, Isolated 203
• Monilethrix 203
• Pili Annulati 206
• Pili Torti 208
• Pili Trianguli Et Canaliculi 211
• Trichorrhexis Invaginata 213
• Trichorrhexis Nodosa 214
• Woolly Hair 216
• Hair Shaft Abnormalities, Syndromic 219
• Menkes Disease 219
• Trichodentoosseous Syndrome 222
• Trichorhinophalangeal Syndrome 225
• Trichothiodystrophy 229
• Nails 233
• Nail Disorders, Isolated 235
• Congenital Malalignment of the Great Toenails 235
• Familial Dystrophic Shedding of the Nails 236
• Leukonychia 238
• Twenty-Nail Dystrophy 240
• Nail Disorders, Syndromic 242
• Nail-Patella Syndrome 242
• Onychotrichodysplasia and Neutropenia 246
• Pachyonychia Congenita 248
• Sweat Glands 253
• Hidradenitis Suppurativa 253
• Hyperhidrosis 256
• Multiple Syringomas 258
• Sebaceous Glands 260
• Eruptive Vellus Hair Cysts 260
• Familial Dyskeratotic Comedones 262
• Oral-Facial-Digital Syndrome Type I 264
• Steatocystoma Multiplex 268
• Ectodermal Dysplasia Syndromes 270
• AEC Syndrome 271
• Clouston Syndrome 276
• EEC Syndrome 279
• Focal Facial Ectodermal Dysplasia 282
• GAPO Syndrome 284
• Hypohidrotic Ectodermal Dysplasia 286
• Tooth and Nail Syndrome 291

4. DISORDERS OF PIGMENTATION 293

• Hyperpigmentation 293
• Carney Complex 293
• Dowling-Degos Disease 297
• Dyskeratosis Congenita 300
• Fanconi Anemia 304
• Hemochromatosis 308
• Incontinentia Pigmenti 311
• LEOPARD Syndrome 316
• Linear and Whorled Nevoid Hypermelanosis 320
• McCune-Albright Syndrome 323
• Naegeli Syndrome 327
• Neurofibromatosis 329
• Nevus Phakomatosis Pigmentovascularis 337
• Peutz-Jeghers Syndrome 339
• Universal Melanosis 342
• Hypopigmentation 345
• Albinisms 345
• Albinism with Deafness 345
• Hermansky-Pudlak Syndrome 347
• Oculocutaneous Albinism Tyrosinase Negative 351
• Oculocutaneous Albinism Tyrosinase Positive 354
• Yellow Mutant Albinism 356
• Cross Syndrome 358
• Hypomelanosis of Ito 360
• Piebaldism 364
• Premature Canities 367
• Vitiligo 369
• Waardenburg Syndrome Types 1, 2, 3, and 4 372

5. DISORDERS OF THE DERMIS 379

• Collagen 379
• Ainhum 379
• Amniotic Bands 381
• Buschke-Ollendorff Syndrome 385
• Dermatosparaxis 387
• Ehlers-Danlos Syndromes 389
• Ehlers-Danlos Types I, II, and III 389
• Ehlers-Danlos Type IV 393
• Ehlers-Danlos Type VI 396
• Ehlers-Danlos Type VIII 397
• Reactive Perforating Collagenosis 399
• Elastin 401
• Costello Syndrome 401
• Cutis Laxa 405
• Pseudoxanthoma Elasticum 412
• Vascular 416
• Ataxia Telangiectasia 416
• Blue Rubber Bleb Nevus Syndrome 419
• Cutis Marmorata Telangiectatica Congenita 422
• Fabry Syndrome 427
• Familial Flame Nevi 431
• Hereditary Glomus Tumors 434
• Hereditary Hemorrhagic
• Telangiectasia 437
• Klippel-Trenaunay-Weber Syndrome 443
• Maffucci Syndrome 447
• Sturge-Weber Syndrome 450
• Mixed 455
• Aplasia Cutis Congenita 455
• Focal Dermal Hypoplasia 460
• Tuberous Sclerosis 465
• Other Disorders of the Dermis 471
• Albright Hereditary Osteodystrophy 471
• Cutis Verticis Gyrata 475
• Familial Dysautonomia 479
• François Syndrome 482
• Lipoid Proteinosis 484
• Multiple Pterygia 489
• Systemic Hyalinosis 493

6. DISORDERS OF SUBCUTANEOUS TISSUE 497

• Cerebrotendinous Xanthomatosis 497
• Familial Multiple Lipomatosis 500
• Familial Symmetric Lipomatosis 503
• Fibrodysplasia Ossificans Progressiva 505
• Lipogranulomatosis 509
• Partial Lipodystrophy 511
• Seip-Berardinelli Syndrome 514

7. LYMPHEDEMA 517

• Cholestasis-Lymphedema Syndrome 517
• Distichiasis and Lymphedema 519
• Hereditary Lymphedema 521

8. URTICARIA 525

• Familial Cold Urticaria 526
• Hereditary Angioedema 528
• Melkersson-Rosenthal Syndrome 532
• Muckle-Wells Syndrome 534
• NOMID/CINCA 536
• Urticaria Pigmentosa 538

9. OTHER DISORDERS 543

• Congenital Erosive and Vesicular Dermatosis 543
• Erythermalgia 545
• Michelin Tire Baby 547
• Stiff Skin 550

10. TUMORS/HAMARTOMAS 553

• Basal Cell Nevus Syndrome 553
• Bathing Trunk Nevus 559
• Cowden Disease 563
• Cylindromatosis 567
• Dysplastic Nevus Syndrome 571
• Epidermal Nevus 574
• Gardner Syndrome 579
• Hereditary Keratoacanthomas 582
• Infantile Myofibromatosis 585
• Multiple Endocrine Neoplasia Types 1, 2A, and 2B/3 588
• Multiple Leiomyomatosis 592
• Pilomatricoma 594
• Proteus Syndrome 596
• Sebaceous Nevus Syndrome 600
• Tumoral Calcinosis 604

11. METABOLIC DISEASE 607

• Porphyrias 607
• Congenital Erythropoietic Porphyria 608
• Erythropoietic Protoporphyria 612
• Hereditary Coproporphyria 616
• Porphyria Cutanea Tarda 618
• Variegate Porphyria 621
• Mucopolysaccharidoses 623
• Hunter Syndrome 623
• Other Metabolic Disorders 626
• Acrodermatitis Enteropathica 626
• Alkaptonuria 630
• Biotinidase Deficiency 632
• Familial Cutaneous Amyloidosis 635
• Prolidase Deficiency 638

12. PREMATURE AGING 641

• Cockayne Syndrome 641
• De Barsy Syndrome 644
• Hallermann-Streiff Syndrome 646
• Hutchinson-Gilford Progeria 649
• Werner Syndrome 654

13. PHOTOSENSITIVITY 658

• Bloom Syndrome 658
• Hartnup Disorder 661
• Kindler Syndrome 663
• Polymorphous Light Eruption 666
• Rothmund-Thomson Syndrome 669
• Xeroderma Pigmentosum 673

14. IMMUNE DEFICIENCY DISEASES 679

• Chediak-Higashi Disease 679
• Chronic Granulomatous Disease 682
• Epidermodysplasia Verruciformis 685
• Familial Mucocutaneous Candidiasis 689
• Griscelli Syndrome Types 1 and 2 692
• Job Syndrome 695
• Mucoepithelial Dysplasia 698
• Wiskott-Aldrich Syndrome 700

Appendix A: Glossary 705
Appendix B: Differential Diagnosis by Skin Sign 707
Figure Credits 729
Index 739

Product Details

• Hardcover: 784 pages
• Publisher: Oxford University Press, USA; 2 edition (June 9, 2010)
• Language: English
• ISBN-10: 0195397665
• ISBN-13: 978-0195397666
• Product Dimensions: 10.1 x 7.4 x 1.8 inches