Genodermatoses A Clinical Guide to Genetic Skin Disorders

by Spitz, Joel L.

• ISBN13: 9780781740883
• ISBN10: 0781740886
• Edition: 2nd
• Format: Hardcover
• Copyright: 2004-12-29
• Publisher: LWW

Summary

Specially designed for dermatologists, pediatricians, and family physicians, this user-friendly guide to genetic skin disorders is an ideal resource for both board preparation and clinical practice. To help make learning a difficult subject more efficient and effective, the text takes a user-friendly, visual approach, featuring more than 300 full-color illustrations and a format designed for maximum retention of content. You'll find features like these-- / Each syndrome is presented in easy-to-read, two-page spreads, allowing you to read material in depth or at-a-glance / Full body diagrams and clinical photographs of each syndrome / Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis / Boxed features highlight clinical pearls and add insight and breadth to the material / New syndromes such as PHACE, AEC, EEC, Griscelli, and Birt-Hogg-Dube As a board preparation tool or on-the-job resource, this powerful reference is valued for its breadth and depth as well as its compact, efficient format.

Table of Contents

Foreword	vii
Preface	ix
Acknowledgments	xi
Contributors	xiii
Introduction	xv
Disorders of Cornification
Leonard M. Milstone
William Rizzo
Gabrielle Richard
Ichthyosis Vulgaris	2	(2)
X-linked Ichthyosis	4	(2)
Epidermolytic Hyperkeratosis	6	(4)
Lamellar Ichthyosis	10	(2)
Congenital Ichthyosiform Erythroderma	12	(2)
Harlequin Fetus	14	(2)
Sjogren-Larsson Syndrome	16	(2)
Refsum Syndrome	18	(2)
Conradi-Hunermann Syndrome	20	(2)
Child Syndrome	22	(2)
Netherton Syndrome	24	(2)
Erythrokeratoderma Variabilis	26	(2)
Kid Syndrome	28	(2)
Diffuse Palmoplantar Keratoderma (PPK)	30	(2)
Howel-Evans Syndrome	32	(2)
Vohwinkel Syndrome	34	(2)
Mal de Meleda	36	(2)
Papillon-Lefevre Syndrome	38	(2)
Richner-Hanhart Syndrome	40	(2)
Darier Disease	42	(2)
Epidermal Nevus Syndrome	44	(4)
Suggested Reading	48	(8)
Disorders of Pigmentation
Seth Orlow
Amy Paller
Jean Bolognia
DGR Evans
Oculocutaneous Albinism Type I (OCA1)	56	(2)
Oculocutaneous Albinism Type II (OCA2)	58	(2)
Hermansky-Pudlak Syndrome	60	(2)
Chediak-Higashi Syndrome	62	(2)
Griscelli Syndrome	64	(2)
Piebaldism	66	(2)
Waardenburg Syndrome	68	(2)
Hypomelanosis of Ito	70	(2)
Incontinentia Pigmenti	72	(4)
Leopard Syndrome	76	(2)
Carney Complex	78	(2)
McCune-Albright Syndrome	80	(2)
Neurofibromatosis I	82	(4)
Neurofibromatosis II	86	(2)
Tuberous Sclerosis	88	(4)
Suggested Reading	92	(8)
Disorders of Vascularization
Amy Paller
Kurt Hirschhorn
Judith Willner
Ilona Frieden
Sturge-Weber Syndrome	100	(2)
Klippel-Trenaunay Syndrome	102	(2)
Cobb Syndrome	104	(2)
Proteus Syndrome	106	(2)
Beckwith-Wiedemann Syndrome	108	(2)
Von Hippel-Lindau Syndrome	110	(2)
Ataxia-Telangiectasia	112	(2)
Hereditary Hemorrhagic Telangiectasia Syndrome	114	(2)
Cutis Marmorata Telangiectatica Congenita	116	(2)
Maffucci Syndrome	118	(2)
Blue Rubber Bleb Nevus Syndrome	120	(2)
Kasabach-Merritt Syndrome	122	(2)
Diffuse Neonatal Hemangiomatosis	124	(2)
PHACE Syndrome	126	(2)
Suggested Reading	128	(6)
Disorders of Connective Tissue
Juoni Uitto
Ilona Frieden
Kurt Hirschhorn
Judith Willner
Ehlers Danlos Syndrome	134	(6)
Marfan Syndrome	140	(2)
Cutis Laxa	142	(2)
Pseudoxanthoma Elasticum	144	(4)
Osteogenesis Imperfecta	148	(2)
Buschke-Ollendorff Syndrome	150	(2)
Focal Dermal Hypoplasia	152	(2)
Lipoid Proteinosis	154	(2)
Progeria	156	(2)
Werner Syndrome	158	(2)
Aplasia Cutis Congenita	160	(4)
Suggested Reading	164	(6)
Disorders with Malignant Potential
Lawrence Eichenfield
Basal Cell Nevus Syndrome	170	(4)
Xeroderma Pigmentosum	174	(4)
Muir-Torre Syndrome	178	(2)
Dyskeratosis Congenita	180	(4)
Gardner Syndrome	184	(2)
Peutz-Jeghers Syndrome	186	(2)
Cowden Syndrome	188	(2)
Multiple Endocrine Neoplasia Type llb	190	(2)
Birt-Hogg-Dube Syndrome	192	(2)
Suggested Reading	194	(6)
Epidermolysis Bullosa
Juoni Uitto
Epidermolysis Bullosa Simplex (EBS)	200	(4)
Junctional Epidermolysis Bullosa (JEB)	204	(4)
Dystrophic Epidermolysis Bullosa (DEB)	208	(4)
Suggested Reading	212	(4)
Disorders of Porphyrin Metabolism
Vincent DeLeo
Porphyria Cutanea Tarda (PCT)	216	(2)
Variegate Porphyria (VP)	218	(2)
Acute Intermittent Porphyria (AIP)	220	(1)
Hereditary Coproporphyria (HCP)	221	(3)
Erythropoietic Protoporphyria (EPP)	224	(2)
Congenital Erythropoietic Porphyria (CEP)	226	(2)
Hepatoerythropoietic Porphyria (HEP)	228	(2)
Suggested Reading	230	(4)
Disorders with Photosensitivity
Moise Levy
Kurt Hirschhorn
Judith Willner
Leonard Milstone
Bloom Syndrome	234	(4)
Rothmund-Thomson Syndrome	238	(4)
Cockayne Syndrome	242	(4)
Trichothiodystrophy	246	(4)
Hartnup Disease	250	(2)
Suggested Reading	252	(4)
Disorders with Immunodeficiency
Moise Levy
Wiskott-Aldrich Syndrome	256	(2)
Chronic Granulomatous Disease	258	(4)
Hyper-Immunoglobulin E Syndrome	262	(2)
Severe Combined Immunodeficiency	264	(4)
Hereditary Angioedema	268	(2)
Suggested Reading	270	(4)
Disorders of Hair and Nails
David Whiting
Bernice Krafchik
Richard Scher
Kurt Hirschhorn
Judith Willner
Menkes' Disease	274	(2)
Bjornstad Syndrome	276	(2)
Argininosuccinic Aciduria	278	(2)
Monilethrix	280	(2)
Uncombable Hair Syndrome	282	(2)
Hypohidrotic Ectodermal Dysplasia	284	(2)
Hidrotic Ectodermal Dysplasia	286	(2)
EEC Syndrome	288	(2)
AEC Syndrome	290	(4)
Pachyonychia Congenita	294	(2)
Nail-Patella Syndrome	296	(2)
Suggested Reading	298	(6)
Disorders of Metabolism
Kurt Hirschhorn
Judith Willner
Alkaptonuria	304	(2)
Fabry Disease	306	(4)
Gaucher Disease	310	(4)
Niemann-Pick Disease	314	(4)
Mucopolysaccharidoses	318	(4)
Multiple Carboxylase Deficiency	322	(2)
Phenylketonuria	324	(2)
Wilson's Disease	326	(2)
Acrodermatitis Enteropathica	328	(2)
Hemochromatosis	330	(2)
Homocystinuria	332	(2)
Hyperlipoproteinemias	334	(4)
Suggested Reading	338	(8)
Disorders with Chromosome Abnormalities
Kurt Hirschhorn
Judith Willner
Down Syndrome	346	(4)
Turner Syndrome	350	(4)
Noonan Syndrome	354	(2)
Klinefelter Syndrome	356	(2)
Suggested Reading	358	(4)
Disorders with Short Stature
Kurt Hirschhorn
Judith Willner
Cornelia de Lange Syndrome	362	(2)
Rubinstein-Taybi Syndrome	364	(2)
Russell-Silver Syndrome	366	(2)
Familial Dysautonomia	368	(2)
Suggested Reading	370	(3)
Support Groups	373	(4)
Lab Testing Appendix	377	(10)
Figure Credits	387	(4)
Index	391