Genetic Diseases of the Skin

ISBN-13: 9783642671548 / Angielski / Miękka / 2012 / 342 str.

V. M. Der Kaloustian; A. K. Kurban; F. Clarke Fraser

Opis

The two organs of the body most accessible to examination are the eye and the skin and its appendages. That is why, it is said, ophthalmological genetics is in such flourishing good health. Dermatological genetics does not seem to have benefited so much from the skin being on the outside, and there are but few dermatological counterparts to the volumes of Sorsby, Waardenburg, Franceschetti and Franr; ois, among others. But thanks to the growing interest in medical genetics, and the modern sophisticated tech niques of molecular, biochemical, and ultrastructural examination, der matology is beginning to catch up, as the appearance of this volume testifies. Because of the growing body of knowledge and the heightened awareness of genetics by both patients and physicians, dermatologists not only will be asked more often about the inheritance of skin conditions they diagnose but increasingly will have the opportunity to diagnose a variety of inborn errors and syndromes by their dermatologic manifestations. On the other hand, syndromologists, clinical geneticists, and physicians are continually seeing patients with diagnostic clues in the skin that they must be able to appreciate. For both groups this book will be a new and valuable source of help. Spring 1979 F. CLARKE FRASER, Ph.D., M.D."

Spis treści

1 Introduction to Human Genetics.- Molecular Genetics.- Biochemical Genetics.- Inheritance in Man.- The Human Chromosomes.- Genetic Heterogeneity.- Prevention and Treatment of Genetic Diseases.- 2 Abnormalities of Keratinization.- Acrokeratoses.- Erythrokeratodermias.- Follicular Keratoses.- Ichthyosiform Dermatoses.- Palmoplanar Keratodermias.- Porokeratoses.- Other Abnormalities of Keratinization.- 3 Abnormalities of Pigmentation.- Hypo- and Amelanosis.- Hypermelanosis.- 4 Bullous Eruptions.- Acrodermatitis Enteropathica.- Epidermolysis Bullosa.- Benign Familial Chronic Pemphigus.- 5 Hyperplasias, Aplasias, Dysplasias, and Atrophies.- Dermal Hypoplasias and Dysplasias.- Ear Malformations.- Syndactylies.- Ectodermal Dysplasias.- Syndromes with Premature Aging.- Poikilodermas.- Cutis Verticis Gyrata.- Other Disorders.- 6 Disorders with Photosensitivity.- Bloom Syndrome.- Hartnup Disease.- Hereditary Polymorphic Light Eruption…..- Porphyrias.- Xeroderma Pigmentosum.- 7 Inherited Disorders with Immune Deficiency.- Antibody Deficiency Diseases.- Immunodeficiencies with Thymic Hypoplasia or.- Dysplasia.- Other Cellular Immunodeficiencies.- Disorders of the Phagocytic System.- Metabolic and Other Disorders.- Wiskott-Aldrich Syndrome (Aldrich Syndrome).- 8 Connective Tissue Disorders.- Cutis Laxa.- Ehlers-Danlos Syndrome.- Pseudoxanthoma Elasticum.- Marfan Syndrome.- Osteogenesis Imperfecta.- Puretic Syndrome.- Elastosis Perforans Serpiginosa.- Familial Reactive Collagenosis.- Mucopolysaccharidoses.- Heredity and Autoimmune Diseases.- 9 Disorders of Hair.- Hereditary Hirsutism.- Hereditary Alopecias.- Other Conditions.- Disorders of Eyelashes and Eyebrows.- 10 Disorders of Nails.- 11 Oral Mucosal Lesions.- Syndromes with Cleft Lip.- Lip Pits or Fistulas.- Gingival Fibromatosis.- Benign Intraepithelial Dyskeratosis.- Melkersson-Rosenthal Syndrome.- Mucosal Neuromas with Endocrine Tumors.- Tongue Abnormalities.- White Sponge Nevus.- 12 Proliferative Disorders.- Collagenoma and Connective Tissue Nevus.- Epidermal Proliferative Disorders.- Fibrous Proliferative Disorders.- Hemangiomas.- Lipomatoses.- Leiomyomas.- Mast Cell Disease.- Histiocytic Proliferative Disorders.- Malignant Lymphomas.- Melanocytic Proliferative Disorders.- 13 Vascular and Hematologic Disorders.- Anemias and Thrombocytopenias.- Telangiectasias.- Lymphedemas.- Raynaud Disease.- Cold Hypersensitivity.- Palmar Erythema.- Other Disorders.- 14 Neurocutaneous Syndromes.- Familial Dysautonomia.- Tuberous Sclerosis.- Neurofibromatosis.- Angiomatoses.- 15 Metabolic Disorders.- Aminoacidemias and Aminoacidurias.- Endocrinopathies.- Storage Diseases.- Other Metabolic Disorders.- 16 Chromosomal Anomalies.- Down Syndrome.- Turner Syndrome.- Other Syndromes with Chromosomal Anomalies.- 17 Dermatoglyphics.- Embryology.- Ridge Patterns.- Dermatoglyphics in Chromosomal Aberration.- Syndromes.- Dermatoglyphic Anomalies in Nonchromosomal Disorders.- 18 Cancer, Genetics, and the Skin.- Disorders with Autosomal Dominant Inheritance.- Disorders with Autosomal Recessive Inheritance.- Disorders with X-linked Recessive Inheritance.- Disorders with Possible Genetic Etiology-Mode of Inheritance Unknown.- 19 Miscellaneous.- Appendix: Differential Diagnoses of Disorders Based on Dermatologic Signs.