Atlas of genodermatoses

Content: 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-Goutieres complex Familial Chilblain Lupus Aicardi-Goutieres Syndrome Monogenic Autoinflammatory Diseases Overgrowth Syndromes Proteus Syndrome CLOVES Syndrome Beckwith-Wiedemann Syndrome CLAPO Syndrome Klippel-Trenaunay 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-Dube Syndrome Carney Complex Bazex-Dupre-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