Genetic Skin Disorders
by Virginia P. Sybert
3rd Edition
Publisher: Oxford University Press
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Book Details
| Print ISBN | 9780190276478 |
| eText ISBN | 9780190276485 |
| Publisher | Oxford University Press |
| Publishing Year | 2017 |
| Edition | 3rd Edition |
| Language | English |
| Pages | 624 |
Genetic Skin Disorders, 3rd Edition, is a clinical textbook by Virginia P. Sybert that outlines the diagnosis, treatment, and genetic basis of inherited dermatologic conditions. Written in an accessible format, the text addresses both common and rare hereditary presentations encountered in medical practice.
The volume provides clinical guidance on signs, symptoms, inheritance modes, and recurrence risks for more than 300 disorders. Core areas of coverage include disorders of epidermal differentiation, pigmentation, and metabolic conditions.
Featuring more than 800 color photographs documenting abnormalities of the skin, hair, and nails, the guide serves as a practical reference for specialists and general practitioners working in clinics, consulting rooms, and diagnostic laboratories.
Table of Contents
Chapter 1: PRACTICAL INHERITANCE
Chapter 2: DISORDERS OF THE EPIDERMIS: DIFFERENTIATION AND KINETICS
- • Ichthyoses
- • Bullous Congenital Ichthyosiform Erythroderma
- • Harlequin Ichthyosis
- • Ichthyosis Bullosa of Siemens
- • Ichthyosis Hystrix
- • Ichthyosis Vulgaris
- • Lamellar Exfoliation of the Newborn
- • Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma
- • Netherton Syndrome
- • Peeling Skin Syndrome
- • Restrictive Dermopathy
- • X-linked Recessive Ichthyosis
- • Erythrokeratodermas
- • Erythrokeratodermia Variabilis et Progressiva
- • Pityriasis Rubra Pilaris
- • Acrokeratoderma
- • Acrokeratoelastoidosis
- • Acrokeratosis Verruciformis (Hopf)
- • Hereditary Palmoplantar Keratodermas
- • Hereditary Palmoplantar Keratoderma with Deafness
- • Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis
- • Hereditary Palmoplantar Keratoderma Howel-Evans
- • Hereditary Palmoplantar Keratoderma Olmsted
- • Hereditary Palmoplantar Keratoderma Punctate
- • Hereditary Palmoplantar Keratoderma Striata
- • Hereditary Palmoplantar Keratoderma Unna-Thost
- • Hereditary Palmoplantar Keratoderma Vohwinkel
- • Keratolytic Winter Erythema
- • Mal de Meleda
- • Papillon-Lefèvre
- • Scleroatrophic and Keratotic Dermatosis of the Limbs
- • Porokeratoses
- • Porokeratosis of Mibelli
- • Other Disorders of the Epidermis
- • Absence of Dermatoglyphics
- • Acanthosis Nigricans
- • Darier-White Disease
- • Hereditary Painful Callosities
- • Keratosis Follicularis Spinulosa Decalvans
- • Knuckle Pads
- • Kyrle/Flegel Disease
- • Ulerythema Ophryogenes
- • Syndromic Disorders
- • CHILD Syndrome
- • Chondrodysplasia Punctata
- • Ichthyosis with Hypogonadism
- • KID Syndrome
- • Neu-Laxova Syndrome
- • Neutral Lipid Storage Disease with Ichthyosis
- • Refsum Disease
- • Richner-Hanhart Syndrome
- • Sjögren-Larsson Syndrome
- • Cohesion
- • Epidermolysis Bullosa
- • Epidermolysis Bullosa Simplex Dowling-Meara
- • Epidermolysis Bullosa Simplex Generalized
- • Epidermolysis Bullosa Simplex Localized
- • Epidermolysis Bullosa Junctional Generalized
- • Epidermolysis Bullosa Junctional Generalized Atrophic Benign
- • Epidermolysis Bullosa Dystrophica Cockayne-Touraine
- • Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens
- • Epidermolysis Bullosa Dystrophica Pretibial
- • Transient Bullous Dermolysis of the Newborn
- • Hailey-Hailey Disease
Chapter 3: DISORDERS OF EPIDERMAL APPENDAGES
- • Hair
- • Alopecias
- • Loose Anagen Hair
- • Male Pattern Baldness
- • Marie Unna Syndrome
- • Hirsutism
- • Gingival Fibromatosis and Hypertrichosis
- • Hypertrichosis Lanuginosa Congenita
- • Leprechaunism
- • Localized Hypertrichosis
- • Hair Shaft Abnormalities, Isolated
- • Monilethrix
- • Pili Annulati
- • Pili Torti
- • Pili Trianguli Et Canaliculi
- • Trichorrhexis Invaginata
- • Trichorrhexis Nodosa
- • Woolly Hair
- • Hair Shaft Abnormalities, Syndromic
- • Menkes Disease
- • Trichodentoosseous Syndrome
- • Trichorhinophalangeal Syndrome
- • Trichothiodystrophy
- • Nails
- • Nail Disorders, Isolated
- • Congenital Malalignment of the Great Toenails
- • Familial Dystrophic Shedding of the Nails
- • Leukonychia
- • Twenty-Nail Dystrophy
- • Nail Disorders, Syndromic
- • Nail-Patella Syndrome
- • Onychotrichodysplasia and Neutropenia
- • Pachyonychia Congenita
- • Sweat Glands
- • Hidradenitis Suppurativa
- • Hyperhidrosis
- • Multiple Syringomas
- • Sebaceous Glands
- • Eruptive Vellus Hair Cysts
- • Familial Dyskeratotic Comedones
- • Oral-Facial-Digital Syndrome Type I
- • Steatocystoma Multiplex
- • Ectodermal Dysplasia Syndromes
- • AEC Syndrome
- • Clouston Syndrome
- • EEC Syndrome
- • Focal Facial Dermal Dysplasia
- • Gapo Syndrome
- • Hypohidrotic Ectodermal Dysplasia
- • Tooth and Nail Syndrome
Chapter 4: DISORDERS OF PIGMENTATION
- • Hyperpigmentation
- • Carney Complex
- • Dowling-Degos Disease
- • Dyskeratosis Congenita
- • Fanconi Anemia
- • H syndrome
- • Hemochromatosis
- • Incontinentia Pigmenti
- • LEOPARD Syndrome
- • Linear and Whorled Nevoid Hypermelanosis
- • McCune-Albright Syndrome
- • Naegeli Syndrome
- • Neurofibromatosis
- • Nevus Phakomatosis Pigmentovascularis
- • Peutz-Jeghers Syndrome
- • Universal Melanosis
- • Hypopigmentation
- • Albinisms
- • Albinism with Deafness
- • Hermansky-Pudlak Syndrome
- • Oculocutaneous Albinism Tyrosinase Negative
- • Oculocutaneous Albinism Tyrosinase Positive
- • Yellow Mutant Albinism
- • Cross Syndrome
- • Hypomelanosis of Ito
- • Piebaldism
- • Premature Canities
- • Vitiligo
- • Waardenburg Syndrome Types 1, 2, 3, and 4
Chapter 5: DISORDERS OF THE DERMIS
- • Collagen
- • Ainhum
- • Amniotic Bands
- • Buschke-Ollendorff Syndrome
- • Dermatosparaxis
- • Ehlers-Danlos Syndromes
- • Ehlers-Danlos Types I, II, and III
- • Ehlers-Danlos Type IV
- • Ehlers-Danlos Type VI
- • Ehlers-Danlos Type VIII
- • Reactive Perforating Collagenosis
- • Elastin
- • Costello Syndrome
- • Cutis Laxa
- • Pseudoxanthoma Elasticum
- • Vascular
- • Ataxia Telangiectasia
- • Venous Malformations, Multiple Cutaneous and Mucosal
- • Cutis Marmorata Telangiectatica Congenita
- • Fabry Syndrome
- • Familial Flame Nevi
- • Hereditary Glomus Tumors
- • Hereditary Hemorrhagic Telangiectasia
- • Klippel-Trenaunay-Weber Syndrome
- • Maffucci Syndrome
- • Sturge-Weber Syndrome
- • Mixed
- • Aplasia Cutis Congenita
- • Focal Dermal Hypoplasia
- • Tuberous Sclerosis Complex
- • Other Disorders of the Dermis
- • Albright Hereditary Osteodystrophy
- • Cutis Verticis Gyrata
- • Familial Dysautonomia
- • François Syndrome
- • Hyaline Fibromatosis Syndrome
- • Lipoid Proteinosis
- • Multiple Pterygia
Chapter 6: DISORDERS OF SUBCUTANEOUS TISSUE
- • Cerebrotendinous Xanthomatosis
- • Familial Multiple Lipomatosis
- • Familial Symmetric Lipomatosis
- • Fibrodysplasia Ossificans Progressiva
- • Lipogranulomatosis
- • Partial Lipodystrophy
- • Berardinelli-Seip Syndrome
Chapter 7: LYMPHEDEMA
- • Cholestasis-Lymphedema Syndrome
- • Distichiasis and Lymphedema
- • Hereditary Lymphedema
Chapter 8: URTICARIA
- • Familial Cold Urticaria
- • Hereditary Angioedema
- • Melkersson-Rosenthal Syndrome
- • Muckle-Wells Syndrome
- • NOMID/CINCA
- • Urticaria Pigmentosa
Chapter 9: OTHER DISORDERS
- • Congenital Erosive and Vesicular Dermatosis
- • Erythromelalgia
- • Michelin Tire Baby
- • Stiff Skin
Chapter 10: TUMORS/HAMARTOMAS
- • Basal Cell Nevus Syndrome
- • Cowden syndrome
- • Cylindromatosis
- • Dysplastic Nevus Syndrome
- • Epidermal Nevus
- • Gardner Syndrome
- • Giant Congenital Nevus
- • Hereditary Keratoacanthomas
- • Hereditary Leiomyomatosis and Renal Cancer
- • Infantile Myofibromatosis
- • Multiple Endocrine Neoplasia Types 1, 2/2A, and 2B/3
- • Pilomatricoma
- • Proteus Syndrome
- • Sebaceous Nevus Syndrome
- • Tumoral Calcinosis
Chapter 11: METABOLIC DISEASE
- • Porphyrias
- • Congenital Erythropoietic Porphyria
- • Erythropoietic Protoporphyria
- • Hereditary Coproporphyria
- • Porphyria Cutanea Tarda
- • Variegate Porphyria
- • Mucopolysaccharidoses
- • Hunter Syndrome
- • Other Metabolic Disorders
- • Acrodermatitis Enteropathica
- • Alkaptonuria
- • Biotinidase Deficiency
- • Familial Cutaneous Amyloidosis
- • Prolidase Deficiency
Chapter 12: PREMATURE AGING
- • Cockayne Syndrome
- • De Barsy Syndrome
- • Hallermann-Streiff Syndrome
- • Hutchinson-Gilford Progeria
- • Werner Syndrome
Chapter 13: PHOTOSENSITIVITY
- • Bloom Syndrome
- • Hartnup Disorder
- • Kindler Syndrome
- • Polymorphous Light Eruption
- • Rothmund-Thomson Syndrome
- • Xeroderma Pigmentosum
Chapter 14: IMMUNE DEFICIENCY DISEASES
- • Chediak-Higashi Disease
- • Chronic Granulomatous Disease
- • Epidermodysplasia Verruciformis
- • Familial Mucocutaneous Candidiasis
- • Griscelli Syndrome Types 1,2 and 3
- • Job Syndrome
- • Mucoepithelial Dysplasia
- • Wiskott-Aldrich Syndrome
Chapter Appendix A: Glossary
Chapter Appendix B: Differential Diagnosis by Skin Sign
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