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Atlas of Genodermatoses – 2nd Edition PDF

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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 seen 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.

Epidermolysis Bullosa
Epidermolytic EB
Junctional EB
Dermolytic EB
Kindler Syndrome

Acantholytic Diseases
Darier Disease
Hailey−Hailey Disease

Ichthyoses
Non-Syndromic Ichthyoses
Syndromic Ichthyoses
Other Syndromic Ichthyoses

Palmoplantar Keratodermas
Epidermolytic Palmoplantar Keratoderma
Keratoderma Hereditaria Mutilans
Loricrin Keratoderma
Greither Disease
Olmsted Syndrome
Papillon-Lefevre Syndrome
Huriez Syndrome
Mal De Meleda
Punctate Palmoplantar Keratoderma
Striate Keratoderma
Richner-Hanhart Syndrome
Painful Callosities
Pachydermoperiostosis
Acrokeratoelastoidosis
Naxos-Carvajal Syndromes
Cole DiseasePalmoplantar Keratoderma – Congenital Alopecia Syndrome

Other Disorders of Keratinization
Porokeratoses
Kyrle’s Disease
Pityriasis Rubra Pilaris

Poikilodermas and Aging Syndromes
Disorders of DNA Repair
Aging Syndromes
Laminopathies

Hair Diseases
Marie-Unna Hypotrichosis
Simplex of the Scalp
Alopecia Areata
Ulerythema Ophryogenes
Triangular Alopecia
Hypotrichosis with Juvenile Macular Dystrophy
Localized Hypotrichosis
Hereditary Hypotrichosis and Recurrent Skin Vesicles
Woodehouse-Sakati Syndrome
Hypertrichosis Congenita
Ambras Syndrome
Localized Hypertrichosis
Zimmermann-Laband Syndrome
Monilethrix
Pili Annulati
Pili Torti
Woolly Hair
Uncombable Hair Syndrome
Silvery Hair Syndrome
Menkes Syndrome
Atrichia with Papular Lesions
Loose Anagen Syndrome

Nail Disorders
Pachyonychia Congenita
Nail-Patella-Elbow Syndrome
Twenty-Nail Dystrophy
Malalignment of the Great Toenails
Leukonychia
Pterygium Inversum of Nails
Iso-Kikuchi Syndrome

Sebocystomatosis
Sebocystomatosis

Oral Mucosa
White Sponge Hyperplasia of the mucosa
Oral-Facial-Digital Syndrome Type I

Neurocutaneous Syndromes
RASopathies
Neurofibromatosis type 1
Noonan Syndrome
Cardio-facio-cutaneous Syndrome
Costello Syndrome
LEOPARD Syndrome
Neurofibromatosis type 2
TS

Epidermal Nevi and Epidermal Nevus Syndromes
Introduction
Epidermal Nevi and Related Syndromes
Phakomatosis Pigmentokeratotica
Waxy Keratosis of Childhood
PENS Syndrome
PEODDN
Nevoid Follicular Mucinosis
CHILD Syndrome

Ectodermal Dysplasias and Related Disorders
Ectodermal Dysplasias
Hypohidrotic ED
p63-related ED
Tricho-Dento-Osseous Syndrome
Witkop Syndrome
Ellis-Van Creveld-Weyers Acrofacial Dysostosis Complex
Nectinopathies
Connexins-related Syndromes
Clouston Disease
Oculo-Dento-Digital Dysplasia (ODDD)
KID syndrome
Ectodermal Dysplasia-Skin Fragility Syndrome
Pure Hair-Nail Ectodermal Dysplasia
Trichorhinophalangeal Syndrome
Allgrove Syndrome
Incontinentia Pigmenti
Goltz Syndrome
MIDAS Syndrome
Naegeli-Franceschetti Syndrome
X-Linked Reticulate Pigmentary Disorder with Systemic Manifestations (XLRPD)

Disorders of Connective Tissue
Ehlers-Danlos Syndromes
Cutis Laxa Syndromes
Pseudoxanthoma Elasticum
Urbach-Wiethe Disease
Marfan Syndrome
Loeys-Dietz Syndrome
Arterial Tortuosity Syndrome
Stickler Syndrome
Connective Tissue Nevi
Buschke-Ollendorff Syndrome
Elastosis Perforans Serpiginosa
Michelin Tire Baby
Juvenile Hyaline Fibromatosis
Cutaneous Mastocytosis
Cutaneous Leiomyomatosis
Dermochondrocorneal Dystrophy
GNAS-Related Syndromes: Osteoma Cutis, Progressive Osseous Heteroplasia, Albright’s Hereditary Osteodistrophy
Cutis Verticis Gyrata

Fatty Tissue Anomalies
Launois-Bensaude Syndrome
Total Lipodystrophy
Partial Lipodystrophy
Lipomas, Familial Multiple Lipomatosis and Nevus Lipomatosus

Aplasia Cutis
Aplasia Cutis
Adams-Oliver syndrome

Disorders of Pigmentation
Oculocutaneous Albinisms (OCAS)
Hermansky-Pudlak syndrome
Cross Syndrome
Hypomelanosis of Ito
Piebaldism
Waardenburg Syndrome
McCune–Albright Syndrome
Linear And Figurated Hypo- And Hyper-Pigmented Nevi
Melanocytic Nevi And Related Syndromes
Segmental Lentiginosis
Ota Nevus
Cutis Tricolor
Dyschromatosis Symmetrica Hereditaria

Vascular Disorders
Fast-Flow Malformations
Slow-Flow Malformations
Other Syndromes with Prominent Vascular Signs
Von Hippel-Lindau Syndrome
Anemic Nevus
Unilateral Nevoid and Generalized Essential Telangiectasia
Cutis Marmorata Telangiectatica Congenital
Macrocephaly-Capillary Malformations
Phakomatosis Pigmentovascularis
Hemorragic Telangiectasia
Maffucci Syndrome
Blue Rubber Bleb Angioma Syndrome
Glomuvenus Malformations
Lymphatic Malformations and Lymphedema Syndromes
Generalized Cyanosis, Phlebectases and Soft Skin syndrome
Syndromic hemangiomas syndrome

Metabolic Diseases
Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria (HEP)
Erythropoietic Protoporphyria
Congenital Erythropoietic Porphyria
Hereditary Coproporphyria and Harderoporphyria
Variegate Porfiria
Acrodermatitis Enteropathica
Fabry Disease
Sea-Blue Histiocytosis
Cerebrotendinous Xanthomatosis
Prolidase Deficiency
Methylmalonic Aciduria
Alkaptonuria

Complex Malformative Syndromes with Distinctive Cutaneous Signs
Rubinstein-Taybi Syndrome
Cornelia De Lange Syndrome
Cohen Syndrome
Branchio-Oculofacial Syndrome
Barber-Say Syndrome
Turner’s Syndrome
Down’s Syndrome
Pallister-Killian Syndrome
Encephalocraniocutaneous Lipomatosis
GAPO Syndrome
Cantu Syndrome
Apert Syndrome
H Syndrome
Poland Syndrome
Kabuki Syndrome
Primary Intestinal Lymphangiectasia
Congenital Insensitivity to Pain
Primary Cutaneous Amyloidosis
Frank-ter Haar-Borrone syndrome
Familial Comedones

Immunodeficiency Disorders
Primary Immunodeficiency (PID) Syndromes
Ataxia-Telangiectasia
Chediak-Higashi Syndrome
Cartilage-Hair Hypoplasia
Chronic Granulomatous Disease
Chronic Mucocutaneous Candidiasis
APECED Syndrome
Hyper-IgE Syndromes
Hereditary Angioedema
Omenn Syndrome-Severe Combined Immunodeficiencies
Common Variable Immunodeficiency
Wiskott-Aldrich Syndrome
Immunoglobulin Deficiencies
Cyclic Neutropenia
Leukocyte Adhesion Deficiencies
DiGeorge Syndrome
Fanconi Anemia

Autoinflammatory Diseases
Familial Chilblain Lupus-Aicardi-Goutières complex
Familial Chilblain Lupus
Aicardi-Goutières Syndrome
Monogenic Autoinflammatory Diseases

Overgrowth Syndromes
Proteus Syndrome
CLOVES Syndrome
Beckwith-Wiedemann Syndrome
CLAPO Syndrome
Klippel-Trénaunay syndrome
Macrocephaly-capillary malformations

Genodermatoses Related to Malignancy
Basal Cell Carcinoma Syndrome
Constitutional Mismatch Repair Deficiency Syndromes
PTEN Hamartoma Syndrome
Gardner Syndrome
Bloom Syndrome
Howel-Evans Syndrome
Multiple Endocrine Neoplasia Syndromes
Peutz-Jeghers Syndrome
Birt-Hogg-Dubé Syndrome
Carney Complex
Bazex-Dupré-Christol Syndrome
Epidermodysplasia Verruciformis
Brooke-Spiegler Syndrome
Progressive Mucinous Hystiocytosis
Degos Disease
Rombo Syndrome

Cutaneous Mosaicism
Definition
Pattern of Clinical Presentation of Mosaicism
The Phenomenon of “Twin-Spots”
Mechanisms of Inheritance of Mosaicism

Genodermatoses in Dark Skin
Federica Dassoni, Gianluca Tadini
Epidermolysis Bullosa
Darier Disease
Ichthyoses
Palmoplantar Keratodermas
Disorders of DNA Repair
Nail Disorders
Neurocutaneous Syndromes
Epidermal nevi and Epidermal nevus syndromes
Disorders of Connective Tissues
Disorders of Pigmentation
Vascular Disorders
Metabolic Diseases
Genodermatoses Related to Malignancies
Instructors

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