Atlas of Genodermatoses: 2nd Edition (Hardback) book cover

Atlas of Genodermatoses

2nd Edition

By Gianluca Tadini, Michela Brena, Carlo Gelmetti, Lidia Pezzani

CRC Press

571 pages | 1289 Color Illus.

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Hardback: 9781466598355
pub: 2015-06-25
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pub: 2015-06-25
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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.


"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 wonderful book. I highly recommend it to all dermatologists to expand their understanding of genodermatoses." - Patricia Wong, MD, Private Practice

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

Table of Contents

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

About the Authors

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

Subject Categories

BISAC Subject Codes/Headings:
MEDICAL / General
MEDICAL / Dermatology
MEDICAL / Pediatrics
MEDICAL / Perinatology & Neonatology