Spitz’s Genodermatoses A Full Color Clinical Guide to Genetic Skin Disorders

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.

Table of Contents:

Introduction

Contents

CHAPTER 1 Disorders of Keratinization

Ichthyosis Vulgaris

Recessive X-Linked Ichthyosis

Epidermolytic Ichthyosis (EI) and Superficial Epidermolytic Ichthyosis (SEI)

Autosomal Recessive Congenital Ichthyosis (ARCI): Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Harlequin Ichthyosis

Sjögren-Larsson Syndrome

Refsum Syndrome

Conradi-Hünermann Syndrome

CHILD Syndrome

Netherton Syndrome

Erythrokeratodermia Variabilis

KID Syndrome

Diffuse Palmoplantar Keratoderma

Howel-Evans Syndrome

Vohwinkel Syndrome

Mal de Meleda

Papillon-Lefèvre Syndrome

Richner-Hanhart Syndrome

Darier Disease

Epidermal Nevus Syndrome (ENS)

CHAPTER 2 Disorders of Pigmentation

Oculocutaneous Albinism Type 1

Oculocutaneous Albinism Type 2

Hermansky-Pudlak Syndrome

Chédiak-Higashi Syndrome

Griscelli Syndrome

Piebaldism

Waardenburg Syndrome

Pigmentary Mosaicism

Incontinentia Pigmenti

Noonan Syndrome With Multiple Lentigenes (Formerly LEOPARD syndrome)

Carney Complex

McCune-Albright Syndrome

Neurofibromatosis Type 1

Neurofibromatosis Type 2

Tuberous Sclerosis

CHAPTER 3 Disorders of Vascularization

Sturge-Weber Syndrome (SWS)

Klippel-Trenaunay Syndrome

Cobb Syndrome

Proteus Syndrome

Beckwith-Wiedemann Syndrome

PIK3CA-Related Overgrowth Spectrum (PROS)

Von Hippel-Lindau Syndrome

Ataxia-Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) Syndrome

Cutis Marmorata Telangiectatica Congenita

Maffucci Syndrome

Blue Rubber Bleb Nevus Syndrome

Kasabach-Merritt Phenomenon (KMP)

Multifocal Infantile Hemangiomas ± Extracutaneous Disease

PHACE Syndrome

CHAPTER 4 Disorders of Connective Tissue

Ehlers-Danlos Syndrome

Marfan Syndrome

Cutis Laxa

Pseudoxanthoma Elasticum

Osteogenesis Imperfecta

Buschke-Ollendorff Syndrome

Focal Dermal Hypoplasia

Lipoid Proteinosis

Progeria

Werner Syndrome

Aplasia Cutis Congenita

CHAPTER 5 Disorders With Malignant Potential

Basal Cell Nevus Syndrome

Lynch Syndrome, Muir-Torre Variant

Dyskeratosis Congenita

Gardner Syndrome

Peutz-Jeghers Syndrome

Cowden Syndrome

Multiple Endocrine Neoplasia Type IIB

Birt-Hogg-Dube Syndrome

CHAPTER 6 Epidermolysis Bullosa

Epidermolysis Bullosa Simplex

Junctional Epidermolysis Bullosa

Dystrophic Epidermolysis Bullosa

Kindler Epidermolysis Bullosa

CHAPTER 7 Disorders of Porphyrin Metabolism

Porphyria Cutanea Tarda

Variegate Porphyria

Acute Intermittent Porphyria

Hereditary Coproporphyria

Erythropoietic Protoporphyria

Congenital Erythropoietic Porphyria

Hepatoerythropoietic Porphyria

CHAPTER 8 Disorders With Photosensitivity

Bloom Syndrome

Rothmund-Thomson Syndrome

Cockayne Syndrome

Trichothiodystrophy

Xeroderma Pigmentosum

Hartnup Disease

CHAPTER 9 Disorders With Immunodeficiency

Wiskott-Aldrich Syndrome

Chronic Granulomatous Disease

Hyper-Immunoglobulin E Syndrome

Severe Combined Immunodeficiency

Hereditary Angioedema

CHAPTER 10 Disorders of Hair and Nails

Menkes Syndrome

Björnstad Syndrome

Argininosuccinic Aciduria

Monilethrix

Uncombable Hair Syndrome

Hypohidrotic Ectodermal Dysplasia

Hidrotic Ectodermal Dysplasia

Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome

Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate (AEC) Syndrome

Pachyonychia Congenita

Nail-Patella Syndrome

CHAPTER 11 Disorders of Metabolism

Alkaptonuria

Fabry Disease

Gaucher Disease

Niemann-Pick Disease

Mucopolysaccharidoses

Multiple Carboxylase Deficiency

Phenylketonuria

Wilson Disease

Acrodermatitis Enteropathica

Hemochromatosis

Homocystinuria

Hyperlipoproteinemias

CHAPTER 12 Disorders With Abnormal Chromosome Number

Down Syndrome

Turner Syndrome

Noonan Syndrome

Klinefelter Syndrome

CHAPTER 13 Disorders With Short Stature

Cornelia de Lange Syndrome

Rubinstein-Taybi Syndrome

Russell-Silver Syndrome

Familial Dysautonomia

Figure Credits

Index