571 Pages 1289 Color Illustrations
    by CRC Press

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    Diagnosing a genetic skin disease can sometimes be a difficult task for a dermatologist. This is especially true for genodermatosesgenerally 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

    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
    Naxos-Carvajal Syndromes
    Cole DiseasePalmoplantar Keratoderma – Congenital Alopecia Syndrome

    Other Disorders of Keratinization

    Kyrle’s Disease
    Pityriasis Rubra Pilaris

    Poikilodermas and Aging Syndromes

    Disorders of DNA Repair
    Aging Syndromes

    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
    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
    Pterygium Inversum of Nails
    Iso-Kikuchi Syndrome



    Oral Mucosa

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

    Neurocutaneous Syndromes

    Neurofibromatosis type 1
    Noonan Syndrome
    Cardio-facio-cutaneous Syndrome
    Costello Syndrome
    LEOPARD Syndrome
    Neurofibromatosis type 2

    Epidermal Nevi and Epidermal Nevus Syndromes
    Epidermal Nevi and Related Syndromes
    Phakomatosis Pigmentokeratotica
    Waxy Keratosis of Childhood
    PENS Syndrome
    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
    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
    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

    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
    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

    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
    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


    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

    "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