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Atlas of Genodermatoses 2nd edition [Kõva köide]

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  • Formaat: Hardback, 571 pages, kõrgus x laius: 280x210 mm, kaal: 2300 g, 5 Tables, color; 1289 Illustrations, color
  • Ilmumisaeg: 25-Jun-2015
  • Kirjastus: CRC Press Inc
  • ISBN-10: 1466598352
  • ISBN-13: 9781466598355
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Atlas of Genodermatoses 2nd editionSuurem pilt
  • Formaat: Hardback, 571 pages, kõrgus x laius: 280x210 mm, kaal: 2300 g, 5 Tables, color; 1289 Illustrations, color
  • Ilmumisaeg: 25-Jun-2015
  • Kirjastus: CRC Press Inc
  • ISBN-10: 1466598352
  • ISBN-13: 9781466598355
Teised raamatud teemal:
Püsilink: https://www.kriso.ee/db/9781466598355.html

Diagnosing a genetic skin disease can sometimes be a difficult task for a dermatologist. This is especially true for genodermatoses-generally considered rare diseases seldom seem by practicing clinicians. As a result, professionals often have little experience with their diagnosis.

The Atlas of Genodermatoses presents a unique collection of such cases gathered patiently over the course of the years by the authors. It provides an unsurpassed overview of the major genodermatoses encountered in practice, even if only on rare occasions.

This book discusses almost 200 inherited diseases of the skin, hair, and nails. The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate.

In addition to being a clinical primer, this atlas is also a work of scientific research. The new edition rewrites the classification of some diseases, adds some newly described conditions, and updates established information with the latest molecular genetic studies and references. Specialists in both dermatology and pediatrics should find the atlas an invaluable frontline resource in the clinic.

Arvustused

"Wonderful descriptions, detailed excellent color photographs, fabulous discussions of causative genetic abnormalities, differential diagnoses, treatments, and associated medical complications I highly recommend it to all dermatologists." - Doody's Reviews

Praise for the Previous Edition:"[ T]his atlas parallels the considerable experience accumulated over several decades in the dermatological clinic of Milan a user-friendly comprehensive reference tool that will be useful as a bedside companion." European Journal of Dermatology Praise for the Previous Edition: "[ T]his atlas parallels the considerable experience accumulated over several decades in the dermatological clinic of Milan a user-friendly comprehensive reference tool that will be useful as a bedside companion." European Journal of Dermatology

Praise for the New Edition:

"Unlike most pediatric dermatology books, this one has wonderful descriptions, detailed excellent color photographs, and fabulous discussions of causative genetic abnormalities, differential diagnoses, treatments, and associated medical complications...This is a superb clinical reference on rare genodermatoses...if you study this book,you will be more perceptive and aware of these entities and hopefully recognize them if they do pop up in your clinic one day...This is a wonderful book." Patricia Wong, MD

Foreword ix
Preface xi
Acknowledgments xiii
Illustration credits
xv
1 Epidermolysis bullosa
1(22)
Definition
1(1)
Epidemiology
2(1)
Epidermolytic epidermolysis bullosa
2(6)
Junctional epidermolysis bullosa
8(6)
Dermolytic epidermolysis bullosa
14(6)
Kindler syndrome
20(3)
2 Acantholytic diseases
23(8)
Darier disease
23(4)
Hailey-Hailey disease
27(4)
3 Ichthyoses
31(58)
Non-syndromic ichthyoses
31(5)
Autosomal recessive congenital ichthyoses
36(10)
Keratinopathic ichthyoses
46(8)
Loricrin keratoderma
54(1)
KLICK syndrome
54(2)
Erythrokeratoderma variabilis
56(1)
Progressive symmetric erythrokeratoderma
57(2)
Pityriasis rotunda
59(2)
Ichthyosis cribriformis
61(1)
Peeling skin syndromes
62(2)
Keratolytic winter erythema
64(1)
Syndromic ichthyoses
65(13)
Other syndromic ichthyoses
78(11)
4 Palmoplantar keratodermas
89(26)
Epidermolytic palmoplantar keratoderma
89(2)
Keratoderma hereditaria mutilans
91(2)
Loricrin keratoderma
93(1)
Greither disease
94(1)
Olmsted syndrome
95(2)
Papillon--Lefevre syndrome
97(1)
Huriez syndrome
98(2)
Mai de Meleda
100(2)
Punctate palmoplantar keratoderma
102(2)
Striate keratoderma
104(1)
Richner--Hanhart syndrome
105(2)
Painful callosities
107(1)
Pachydermoperiostosis
108(1)
Acrokeratoelastoidosis
109(1)
Naxos--Carvajal syndromes
110(2)
Cole disease
112(2)
Palmoplantar keratoderma-congenital alopecia syndrome
114(1)
5 Other disorders of keratinization
115(8)
Porokeratoses
115(3)
Kyrle's disease
118(2)
Pityriasis rubra pilaris
120(3)
6 Poikilodermas and aging syndromes
123(22)
Disorders of DNA repair
123(11)
Aging syndromes
134(5)
Laminopathies
139(6)
7 Hair diseases
145(28)
Marie--Unna hypotrichosis
145(1)
Hypotrichosis simplex of the scalp
146(1)
Alopecia areata
147(1)
Ulerythema ophryogenes
148(2)
Triangular alopecia
150(1)
Hypotrichosis with juvenile macular dystrophy
151(1)
Localized hypotrichosis
152(1)
Hereditary hypotrichosis and recurrent skin vesicles
152(1)
Woodehouse--Sakati syndrome
153(2)
Hypertrichosis congenita
155(1)
Ambras syndrome
156(2)
Localized hypertrichosis
158(1)
Zimmermann--Laband syndrome
159(1)
Monilethrix
160(2)
Pili annulati
162(1)
Pili torti
163(2)
Woolly hair
165(1)
Uncombable hair syndrome
166(1)
Silvery hair syndrome
167(2)
Menkes syndrome
169(2)
Atrichia with papular lesions
171(1)
Loose anagen syndrome
172(1)
8 Nail disorders
173(10)
Pachyonychia congenita
173(3)
Nail--patella--elbow syndrome
176(1)
Twenty-nail dystrophy
177(1)
Malalignment of the great toenails
178(1)
Leukonychia
179(1)
Pterygium inversum of nails
180(1)
Iso-Kikuchi syndrome
181(2)
9 Sebocystomatosis
183(2)
Sebocystomatosis
183(2)
10 Oral mucosa
185(4)
White sponge hyperplasia of the mucosa
185(1)
Oral--facial--digital syndrome type I
186(3)
11 Neurocutaneous syndromes
189(28)
Neurofibromatosis type 1
189(11)
Noonan syndrome
200(1)
Cardio--facio--cutaneous syndrome
201(1)
Costello syndrome
202(2)
LEOPARD syndrome
204(2)
Neurofibromatosis type 2
206(2)
Tuberous sclerosis
208(9)
12 Epidermal nevi and epidermal nevus syndromes
217(24)
Introduction
217(1)
Epidermal nevi and related syndromes
217(10)
Phakomatosis pigmentokeralotica
227(3)
Waxy keratosis
230(2)
PENS syndrome
232(3)
PEODDN
235(2)
Nevoid follicular mucinosis
237(1)
CHILD syndrome
238(3)
13 Ectodermal dysplasias and related disorders
241(42)
Ectodermal dysplasias
241(1)
Hypohidrotic ED
241(7)
p63-related ectodermal dysplasias
248(4)
Tricho--dento--osseous syndrome
252(2)
Witkop syndrome
254(1)
Ellis--van Creveld--Weyers acrofacial dysostosis complex
255(1)
Nectinopathies
256(2)
Connexins-related syndromes
258(5)
Ectodermal dysplasia--skin fragility syndrome
263(1)
Pure hair--nail ectodermal dysplasia
264(2)
Trichorhinophalangeal syndrome
266(1)
Allgrove syndrome
267(2)
Incontinentia pigmenti
269(5)
Goltz syndrome
274(3)
MIDAS syndrome
277(1)
Naegeli--Franceschetti syndrome
278(2)
X-linked reticulate pigmentary disorder with systemic manifestations (XLRPD)
280(3)
14 Disorders of connective tissue
283(42)
Ehlers--Danlos syndromes
283(11)
Cutis laxa syndromes
294(5)
Pseudoxanthoma elasticum
299(3)
Urbach--Wiethe disease
302(2)
Marfan syndrome
304(2)
Loeys--Dietz syndrome
306(2)
Arterial tortuosity syndrome
308(1)
Stickler syndrome
309(1)
Connective tissue nevi
310(2)
Buschke--Ollendorff syndrome
312(1)
Elastosis perforans serpiginosa
313(1)
Michelin tire baby
314(1)
Juvenile hyaline fibromatosis
315(2)
Cutaneous mastocytosis
317(1)
Cutaneous leiomyomatosis
318(1)
Dermochondrocorneal dystrophy
319(2)
GNAS-related syndromes: osteoma (osteomatosis) cutis, progressive osseous heteroplasia
Albright's hereditary osteodystrophy
321(2)
Cutis verticis gyrata
323(2)
15 Fatty tissue anomalies
325(6)
Launois--Bensaude syndrome
325(1)
Total lipodystrophy
326(2)
Partial lipodystrophy
328(1)
Lipomas, familial multiple lipomatosis and nevus lipomatosus
329(2)
16 Aplasia cutis
331(6)
Aplasia cutis
331(4)
Adams--Oliver syndrome
335(2)
17 Disorders of pigmentation
337(28)
Oculocutaneous albinisms
337(6)
X-linked ocular albinism
343(1)
Hermansky-Pudlak syndrome
344(2)
Cross syndrome
346(1)
Hypomelanosis of Ito
347(1)
Piebaldism
348(2)
Waardenburg syndrome
350(1)
McCune--Albright syndrome
351(2)
Linear and figurated hypo- and hyper-pigmented nevi
353(3)
Melanocytic nevi and related syndromes
356(2)
Segmental lentiginosis
358(3)
Ota nevus
361(1)
Cutis tricolor
362(2)
Dyschromatasis symmetrica hereditaria
364(1)
18 Vascular disorders
365(34)
Fast-flow malformations
365(4)
Slow-flow malformations
369(7)
Other syndromes with prominent vascular signs
376(14)
Lymphatic malformations and lymphedema syndromes
390(3)
Generalized cyanosis, phlebectases and soft skin syndrome
393(2)
Hemangioma syndromes
395(2)
CADASIL
397(2)
19 Metabolic diseases
399(24)
Porphyria cutanea tarda and hepatoerythropoietic porphyria
399(3)
Erythropoietic protoporphyria
402(2)
Congenital erythropoietic porphyria
404(3)
Hereditary coproporphyria and harderoporphyria
407(2)
Variegate porphyria
409(1)
Acrodermatitis enteropathica
410(2)
Fabry disease
412(2)
Sea-blue histiocytosis
414(2)
Cerebrotendinous xanthomatosis
416(2)
Prolidase deficiency
418(1)
Methylmalonic aciduria
419(2)
Alkaptonuria
421(2)
20 Complex malformative syndromes with distinctive cutaneous signs
423(32)
Rubinstein--Taybi syndrome
423(2)
Cornelia de Lange syndrome
425(2)
Cohen syndrome
427(1)
Branchio--oculofacial syndrome
428(2)
Barber--Say syndrome
430(2)
Turner syndrome
432(2)
Down syndrome
434(1)
Pallister--Killian syndrome
434(2)
Encephalocraniocutaneous lipomatosis
436(2)
GAPO syndrome
438(1)
Cantu syndrome
439(2)
Apert syndrome
441(1)
H syndrome
442(2)
Poland syndrome
444(1)
Kabuki syndrome
445(2)
Primary intestinal lymphangiectasia
447(1)
Congenital insensitivity to pain
448(2)
Primary cutaneous amyloidosis
450(1)
Frank--Ter Haar--Borrone syndrome
451(2)
Familial comedones
453(2)
21 Immunodeficiency disorders
455(22)
Primary immunodeficiency syndromes
455(1)
Ataxia--telangiectasia
455(3)
Chediak--Higashi syndrome
458(1)
Cartilage--hair hypoplasia
459(1)
Chronic granulomatous disease
460(1)
Chronic mucocutaneous candidiasis
461(1)
APECED syndrome
462(1)
Hyper-IgE syndromes
463(2)
Hereditary angioedema
465(1)
Omenn syndrome--severe combined immunodeficiencies
466(2)
Common variable immunodeficiency
468(1)
Wiskott--Aldrich syndrome
469(1)
Immunoglobulin deficiencies
470(2)
Cyclic neutropenia
472(1)
Leukocyte adhesion deficiencies
473(1)
DiGeorge syndrome
473(1)
Fanconi anemia
474(3)
22 Autoinflammatory diseases
477(8)
Familial chilblain lupus
477(2)
Aicardi-Goutieres syndrome
479(2)
Monogenic autoinflammatory diseases
481(4)
23 Overgrowth syndromes
485(8)
Proteus syndrome
485(2)
CLOVES syndrome
487(2)
Beckwith--Wiedemann syndrome
489(1)
CLAPO syndrome
490(1)
Klippel--Trenaunay syndrome
491(1)
Macrocephaly--capillary malformation syndrome
491(2)
24 Genodermatoses related to malignancy
493(28)
Basal cell carcinoma syndrome
493(3)
Constitutional mismatch repair-deficiency syndromes
496(2)
PTEN hamartoma syndrome
498(3)
Gardner syndrome
501(2)
Bloom's syndrome
503(1)
Howel--Evans syndrome
504(1)
Multiple endocrine neoplasia syndromes
505(2)
Peutz--Jeghers syndrome
507(2)
Birt--Hogg--Dube syndrome
509(2)
Carney complex
511(1)
Bazex--Dupre--Christol syndrome
512(2)
Epidermodysplasia verruciformis
514(1)
Brooke--Spiegler syndrome
515(2)
Progressive mucinous histiocytosis
517(1)
Degos disease
518(2)
Rombo syndrome
520(1)
25 Cutaneous mosaicism
521(14)
Definition
521(1)
Pattern of clinical presentation of mosaicism
521(6)
The phenomenon of twin-spots
527(2)
Mechanisms of inheritance of mosaicism
529(6)
26 Genodermatoses in dark skin
535(8)
Index 543
Gianluca Tadini, MD, Pediatric Dermatology Unit and Pediatric Clinic 1, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy

Michela Brena, MD, Post-Graduate School of Dermatology and Venereology, University of Milan, Italy

Carlo Gelmetti, MD, chairman of the Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy

Lidia Pezzani, MD, Post-Graduate School of Medical Genetics, University of Milan, Italy