Mosaicism in human skin : understanding nevi, nevoid skin disorders, and cutaneous neoplasia / / Rudolf Happle, Antonio Torrelo

• Record Nr.: UNINA9910632469203321
• Autore: Happle R (Rudolf)
• Pubbl/distr/stampa: Cham, Switzerland : , : Springer, , [2023]; ©2023
• ISBN: 3-030-89937-3
• Edizione: [Second edition.]
• Descrizione fisica: 1 online resource (251 pages) : illustrations, portrait
• Disciplina: 616.5
• Soggetti: Skin - Diseases; Mosaicism; Skin Neoplasms; Skin Diseases; Nevus
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Nota di bibliografia: Includes bibliographical references and index.
• Nota di contenuto: Introduction -- Preface -- Acknowledgments -- 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 -- 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 -- 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? -- 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 -- 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.