| Description |
1 online resource (xiii, 243 pages) : illustrations (chiefly color) |
| Contents |
Intro -- Preface -- Acknowledgments -- Contents -- 1: Introduction -- 2: Mosaicism as a Biological Concept -- 2.1 Historical Beginnings -- 2.2 Mosaicism in Plants -- 2.3 Mosaicism in Animals -- 2.4 Mosaicism in Human Skin -- 2.5 Mosaicism Versus Chimerism -- 2.6 Does the Coat of Zebras Reflect Mosaicism? -- References -- 3: The Major Categories of Mosaicism -- 3.1 Nonsegmental Versus Segmental Mosaicism of Autosomal Dominant Skin Disorders -- 3.1.1 Nonsegmental Mosaicism -- 3.1.2 Segmental Mosaicism -- 3.2 Genomic Versus Epigenetic Mosaicism -- 3.3 Genomic Mosaicism |
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3.3.1 Genomic Mosaicism of Autosomes -- 3.3.1.1 Mosaicism Caused by Loss of Heterozygosity -- 3.3.1.2 Genomic Mosaicism of Lethal Autosomal Mutations -- Mosaicism Caused by Lethal Cytogenetic Abnormalities -- Mosaicism Caused by Lethal Molecular Defects -- 3.3.1.3 Genomic Mosaicism of Nonlethal Autosomal Mutations -- Simple Segmental Mosaicism of Autosomal Dominant Disorders -- Superimposed Mosaicism of Autosomal Dominant Disorders -- Monoallelic Versus Biallelic Mosaicism -- Disseminated Mosaicism of Biallelic Autosomal Dominant Disorders -- Isolated Segmental Biallelic Monoclonal Mosaicism |
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Blue Rubber Bleb Angiomatosis ("Blue Rubber Bleb Nevus Syndrome"): A Unique Type of Postzygotic Mosaicism -- 3.3.2 Autosomal Recessive Mosaicism -- 3.3.3 Didymosis (Twin Spotting) -- 3.3.4 Revertant Mosaicism -- 3.3.5 Genomic X-Chromosome Mosaicism in Male Patients -- 3.3.6 Superimposed Segmental Manifestation of Polygenic Skin Disorders -- 3.4 Epigenetic Mosaicism -- 3.4.1 Epigenetic Mosaicism of Autosomal Genes -- 3.4.2 Epigenetic Mosaicism of X Chromosomes -- 3.4.2.1 Functional X-Chromosome Mosaicism in Female Patients -- 3.4.2.2 Why Do Women Live Longer? |
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3.4.2.3 Functional X-Chromosome Mosaicism in Male Patients -- 3.4.3 X-Linked Genes Escaping Inactivation -- References -- 4: Relationship Between Hypomorphic Alleles and Mosaicism of X-Linked or Autosomal Mutations -- 4.1 Hypomorphic Alleles and X-Linked Dominant, Male-Lethal Cutaneous Syndromes -- 4.2 Hypomorphic Alleles in Autosomal Dominant Skin Disorders -- References -- 5: The Archetypical Patterns of Segmental Cutaneous Mosaicism -- 5.1 Lines of Blaschko -- 5.1.1 Lines of Blaschko, Narrow Bands -- 5.1.2 Lines of Blaschko, Broad Bands |
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5.1.3 Analogy of Blaschko's Lines in Other Organs -- 5.1.4 Blaschko's Lines in Animals -- 5.1.5 Analogy of Blaschko's Lines in the Murine Brain -- 5.2 Flag-like Pattern -- 5.3 Phylloid Pattern -- 5.4 Lateralization Pattern -- References -- 6: Less Well-Defined or So Far Unclassifiable Patterns -- 6.1 Oblique Pattern (Sash-Like Pattern) -- 6.2 Pallister-Killian Pattern -- 6.3 Midfacial Pattern -- References -- 7: Nevi -- 7.1 The Theory of Lethal Genes Surviving by Mosaicism -- 7.2 Pigmentary Nevi -- 7.2.1 Melanocytic Nevi -- 7.2.1.1 Common Small Melanocytic Nevus |
| Summary |
This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians. |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Online resource; title from PDF title page (SpringerLink, viewed December 19, 2022) |
| Subject |
Skin -- Diseases.
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Mosaicism.
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Skin Diseases
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Mosaicism
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Mosaicism
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Skin -- Diseases
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| Form |
Electronic book
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| Author |
Torrelo, Antonio, author
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| ISBN |
9783030899370 |
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3030899373 |
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