Genetic Skin Disorders
2nd Edition
Published on 17. June 2010
Book
Hardback
784 pages
978-0-19-539766-6 (ISBN)
Description
This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal
diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrated with color photos to illustrate the conditions and conditions are
grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. This invaluable resource reflects the author's extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical
synthesis of information on the genetics of diseases affecting the skin. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest.
The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions. Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders. All references have been updated as well as support group information and website resources.
diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrated with color photos to illustrate the conditions and conditions are
grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. This invaluable resource reflects the author's extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical
synthesis of information on the genetics of diseases affecting the skin. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest.
The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions. Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders. All references have been updated as well as support group information and website resources.
Reviews / Votes
"Genetic Skin Disorders is designed to be used by basic researchers looking for an easy to use overview, and by practicing clinicians. There are over 325 conditions described in this book arranged in a hierarchy that is logical and practical....Although there are several recent, less-expensive one-volume works covering inherited skin diseases, the overall strength of this work is its ready-reference ease of use. The articals are clear and well laid out. Itsmargins and typeface make it easy to use....Its breadth of subject coverage, use of photographs, and concise organization makes it a useful addition to any academic or clinical library collection."--E-STREAMS
"What distinguishes this work from the usual giant multiauthored good gray textbooks is the confidence bred from extensive clinical experience that is reflected in the critical commentary expressed in lively prose...The book is far better for the glimpses of the author's intellect."--Ervin H. Epstein, Jr., MD and Michelle Aszterbaum, MD, The New England Journal of Medicine
"Virginia Sybert has done an outstanding job on her book Genetic Skin Diosrders. She has produced a useable encyclopedic volume that will be greatly appreciated by students and practitioners in dermatology, pediatrics, and genetics....this is a reader-friendly, easy-to-use reference book, which is comprehensive, informative, up-to-date, instructive, and not least of all entertaining. The author's wit and wisdom is peppered throughout the book, which entices
the reader to look at 'just one more section' before setting it down."--Journal of the American Academy of Dermatology
"This new guidebook provides an excellent means of retrieving...information rapidly....This book's clear outline, excellent illustrations and diagnostic reference tables will be invaluable to paediatricians as well as to clinical geneticists and dermatologists."--Paediatric Child Health Journal
"This is a comprehensive categorical compendium of genetic skin disorders. Each disorder has a differential diagnosis,clinical description, and annotated bibliography. Most have excellent photographs....This is a book that belongs in the office of every dermatologist, and in the library of every pediatric residency program next to SMITH. I recommend it without peer for dermatology board exams and recertification study. No other similar has the list of
support groups, therapeutic suggestions, and the annoted bibliography found here." --Doody's
"It is more focused than an Internet search and has the additional advantage that you can quickly compare several disorders. In addition, there are brief therapy suggestions where the author clearly inidcates what has worked for her or what others have reported. As Dr. Sybert indicates in the introduction, there are a number of books on genetic skin diseases, but her aim was to produce a practical, personalized version. She has succeeded admirably." --
Pediatric Dermatology
"The second edition of Genetic Skin Disorders was long awaited. The book is well-illustrated with colour photographs and provides easily accessible information on inherited skin disorders." -- European Journal of Human Genetics
More details
Edition
2nd Revised edition
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Geneticists, dermatologists, pediatricians, researchers
Edition type
Revised edition
Illustrations
502 illustrations
Dimensions
Height: 255 mm
Width: 188 mm
Thickness: 49 mm
Weight
2032 gr
ISBN-13
978-0-19-539766-6 (9780195397666)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Additional editions
Virginia P. Sybert
Genetic Skin Disorders
Book
03/2017
3rd Edition
Oxford University Press Inc
€323.50
Shipment within 15-20 days
Virginia P. Sybert
Genetic Skin Disorders
E-Book
01/2017
3rd Edition
OUP eBook
€173.99
Available for download
Virginia Sybert
Genetic Skin Disorders
E-Book
06/2010
2nd Edition
OUP eBook
€128.99
Available for download
Virginia Sybert
Genetic Skin Disorders
E-Book
06/2010
2nd Edition
OUP eBook
€128.99
Available for download
Previous edition
Virginia P. Sybert
Genetic Skin Disorders
Book
08/1997
Oxford University Press Inc
€183.91
Article exhausted; check for reprint
Person
Virginia P. Sybert, MD, is a Pediatric Dermatologist and Staff Physician in Dermatology at Group Health Permanente and a Clinical Professor in the Division of Medical Genetics at the University of Washington School of Medicine in Seattle.
Content
Contents
1. PRACTICAL INHERITANCE
2. DISORDERS OF THE EPIDERMIS
Ichthyoses
Bullous Congenital Ichtyosiform Erythroderma
Continual peeling skin
Harlequin fetus
Ichthyosis bullosa of Siemens
Ichthyosis hystrix
Ichthyosis vulgaris
Lamellar exfoliation of the newborn
Lamellar ichthyosis
Netherton syndrome
Restrictive dermopathy
X-linked recessive ichthyosis
Erythrokeratodermas
Erythrokeratodermia variabilis
Pityriasis rubra pilaris
Progressive symmetric erythrokeratoderma
Acrokeratoderma
Acrokeratoelastoidosis
Acrokeratosis verruciformis
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-Lefevre
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
Sjoegren-Larsson syndrome
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 dermatolysis of the newborn
Hailey-Hailey disease
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
Polycystic ovarian disease
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
Trichodentoosseus syndrome
Tricho-rhino-phalangeal syndrome
Trichothiodystrophy
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 congenital
Sweat Glands
Hidradenitis Suppurativa
Hyperhidrosis
Multiple Syringomas
Sebaceous Glands
Eruptive Vellus Hair Cysts
Familial Dyskeratotic Comedones
Oral-facial-digital syndrome type I
Steatocystoma Multiplex
Ectoder
Ectodermal Dysplasia Syndromes
AEC Syndrome
Clouston Syndrome
EEC Syndrome
Focal Facial Ectodermal Dysplasia
Gapo Syndrome
Hypohidrotic Ectodermal Dysplasia
Tooth and Nail Syndrome
4. DISORDERS OF PIGMENTATION
Hyperpigmentation
Carney complex
Dowling-Degos disease
Dyskeratosis congenita
Fanconi anemia
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, and 3
5. DISORDERS OF THE DERMIS
Collagen
Ainhum
Amniotic bands
Buschke-Ollendorff syndrome
Dermatosparaxis
Ehlers-Danlos Introduction
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
Blue rubber bleb nevus syndrome
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
Other disorders of the dermis
Albright hereditary osteodystrophy
Cutis verticis gyrate
Familial dysautonomia
Francois syndrome
Lipoid proteinosis
Multiple pterygia
Systemic hyalinosis
6. DISORDERS OF SUBCUTANEOUS TISSUE
Cerebrotendinous xanthomatosis
Familial multiple lipomatosis
Familial symmetric lipomatosis
Fibrodysplasia ossificans progressiva
Lipogranulomatosis
Partial lipodystrophy
Seip-Berardinelli syndrome
7. LYMPHEDEMA
Cholestasis-lymphedema
Distichiasis and lymphedema
Hereditary lymphedema
8. URTICARIA
Familial cold urticaria
Hereditary angioneurotic edema
Melkersson-Rosenthal syndrome
Muckle-Wells syndrome
NOMID/CINCA
Urticaria pigmentosa
9. OTHER DISORDERS
Congenital erosive and vesicular dermatosis
Erythromelalgia
Michelin tire baby
Stiff skin
10. TUMORS/HAMARTOMAS
Basal cell nevus syndrome
Bathing trunk nevus
Cowden disease
Cylindromatosis
Dysplastic nevus syndrome
Epidermal nevus
Gardner syndrome
Hereditary keratoacanthomas
Infantile myofibromatosis
Multiple endocrine neoplasia types 1, 2A/2B,
Multiple leiomyomatosis
Pilomatricoma
Proteus syndrome
Sebaceous nevus syndrome
Tumoral calcinosis
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
12. PREMATURE AGING
Cockayne syndrome
de Barsy syndrome
Hallermann-Streiff syndrome
Hutchinson-Gilford progeria
Werner syndrome
13. PHOTOSENSITIVITY
Bloom syndrome
Hartnup disorder
Kindler syndrome
Polymorphous light eruption
Rothmund-Thomson syndrome
Xeroderma pigmentosum
14. IMMUNE DEFICIENCY DISEASES
Chediak-Higashi disease
Chronic granulomatous disease
Epidermodysplasia verruciformis
Familial mucocutaneous candidiasis
Griscelli syndrome
Job syndrome
Mucoepithelial dysplasia
Wiskott-Aldrich syndrome
APPENDIX A. GLOSSARY
APPENDIX B. DIFFERENTIAL DIAGNOSIS BY SKIN SIGN
FIGURE CREDITS
INDEX
1. PRACTICAL INHERITANCE
2. DISORDERS OF THE EPIDERMIS
Ichthyoses
Bullous Congenital Ichtyosiform Erythroderma
Continual peeling skin
Harlequin fetus
Ichthyosis bullosa of Siemens
Ichthyosis hystrix
Ichthyosis vulgaris
Lamellar exfoliation of the newborn
Lamellar ichthyosis
Netherton syndrome
Restrictive dermopathy
X-linked recessive ichthyosis
Erythrokeratodermas
Erythrokeratodermia variabilis
Pityriasis rubra pilaris
Progressive symmetric erythrokeratoderma
Acrokeratoderma
Acrokeratoelastoidosis
Acrokeratosis verruciformis
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-Lefevre
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
Sjoegren-Larsson syndrome
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 dermatolysis of the newborn
Hailey-Hailey disease
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
Polycystic ovarian disease
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
Trichodentoosseus syndrome
Tricho-rhino-phalangeal syndrome
Trichothiodystrophy
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 congenital
Sweat Glands
Hidradenitis Suppurativa
Hyperhidrosis
Multiple Syringomas
Sebaceous Glands
Eruptive Vellus Hair Cysts
Familial Dyskeratotic Comedones
Oral-facial-digital syndrome type I
Steatocystoma Multiplex
Ectoder
Ectodermal Dysplasia Syndromes
AEC Syndrome
Clouston Syndrome
EEC Syndrome
Focal Facial Ectodermal Dysplasia
Gapo Syndrome
Hypohidrotic Ectodermal Dysplasia
Tooth and Nail Syndrome
4. DISORDERS OF PIGMENTATION
Hyperpigmentation
Carney complex
Dowling-Degos disease
Dyskeratosis congenita
Fanconi anemia
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, and 3
5. DISORDERS OF THE DERMIS
Collagen
Ainhum
Amniotic bands
Buschke-Ollendorff syndrome
Dermatosparaxis
Ehlers-Danlos Introduction
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
Blue rubber bleb nevus syndrome
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
Other disorders of the dermis
Albright hereditary osteodystrophy
Cutis verticis gyrate
Familial dysautonomia
Francois syndrome
Lipoid proteinosis
Multiple pterygia
Systemic hyalinosis
6. DISORDERS OF SUBCUTANEOUS TISSUE
Cerebrotendinous xanthomatosis
Familial multiple lipomatosis
Familial symmetric lipomatosis
Fibrodysplasia ossificans progressiva
Lipogranulomatosis
Partial lipodystrophy
Seip-Berardinelli syndrome
7. LYMPHEDEMA
Cholestasis-lymphedema
Distichiasis and lymphedema
Hereditary lymphedema
8. URTICARIA
Familial cold urticaria
Hereditary angioneurotic edema
Melkersson-Rosenthal syndrome
Muckle-Wells syndrome
NOMID/CINCA
Urticaria pigmentosa
9. OTHER DISORDERS
Congenital erosive and vesicular dermatosis
Erythromelalgia
Michelin tire baby
Stiff skin
10. TUMORS/HAMARTOMAS
Basal cell nevus syndrome
Bathing trunk nevus
Cowden disease
Cylindromatosis
Dysplastic nevus syndrome
Epidermal nevus
Gardner syndrome
Hereditary keratoacanthomas
Infantile myofibromatosis
Multiple endocrine neoplasia types 1, 2A/2B,
Multiple leiomyomatosis
Pilomatricoma
Proteus syndrome
Sebaceous nevus syndrome
Tumoral calcinosis
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
12. PREMATURE AGING
Cockayne syndrome
de Barsy syndrome
Hallermann-Streiff syndrome
Hutchinson-Gilford progeria
Werner syndrome
13. PHOTOSENSITIVITY
Bloom syndrome
Hartnup disorder
Kindler syndrome
Polymorphous light eruption
Rothmund-Thomson syndrome
Xeroderma pigmentosum
14. IMMUNE DEFICIENCY DISEASES
Chediak-Higashi disease
Chronic granulomatous disease
Epidermodysplasia verruciformis
Familial mucocutaneous candidiasis
Griscelli syndrome
Job syndrome
Mucoepithelial dysplasia
Wiskott-Aldrich syndrome
APPENDIX A. GLOSSARY
APPENDIX B. DIFFERENTIAL DIAGNOSIS BY SKIN SIGN
FIGURE CREDITS
INDEX