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Title Mosaicism in human skin : understanding nevi, nevoid skin disorders, and cutaneous neoplasia / by Rudolf Happle.
Imprint Heidelberg : Springer, 2014.


 Internet  Electronic Book    AVAILABLE
Description 1 online resource
Bibliog. Includes bibliographical references and index.
Note Available only to authorized UTEP users.
Print version record.
Subject Skin -- Diseases.
Skin Diseases.
public health
humane genetica
human genetics
Medicine (General)
Geneeskunde (algemeen)
Contents 1. Introduction -- Part I. The Mechanisms of Cutaneous Mosaicism -- 2. Mosaicism as a Biological Concept -- Historical Beginnings -- Mosaicism in Plants -- Mosaicism in Animals -- Mosaicism in Human Skin -- Mosaicism Versus Chimerism -- 3. Two Major Categories of Mosaicism -- Genomic Mosaicism. -- Genomic Mosaicism of Autosomes -- Genomic X-Chromosome Mosaicism in Male Patients -- Superimposed Segmental Manifestation of Polygenic Skin Disorders -- Epigenetic Mosaicism -- Epigenetic Mosaicism of Autosomal Genes -- Epigenetic Mosaicism of X Chromosomes -- 4. Relationship Between Hypomorphic Alleles and Mosaicism of Lethal Mutations.
Part II. The Patterns of Cutaneous Mosaicism -- 5. Six Archetypical Patterns -- Lines of Blaschko -- Lines of Blaschko, Narrow Bands -- Lines of Blaschko, Broad Bands -- Analogy of Blaschko's Lines in Other Organs -- Blaschko's Lines in Animals -- Analogy of Blaschko's Lines in the Murine Brain -- Checkerboard Pattern -- Phylloid Pattern -- Large Patches Without Midline Separation -- Lateralization Pattern -- Sash-Like Pattern -- 6. Less Well Defined or So Far Unclassifiable Patterns -- The Pallister-Killian Pattern -- The Mesotropic Facial Pattern.
Part III. Mosaic Skin Disorders -- 7. Nevi -- The Theory of Lethal Genes Surviving by Mosaicism. -- Pigmentary Nevi -- Melanocytic Nevi -- Other Nevi Reflecting Pigmentary Mosaicism -- Epidermal Nevi -- Keratinocytic Nevi -- Organoid Epidermal Nevi -- Vascular Nevi -- Capillary Nevi -- Venous Nevi -- Connective Tissue Nevi -- Collagen Nevi of Tuberous Sclerosis -- Linear Collagen Nevus -- Elastin-Rich Nevus -- Segmental Manifestation of Ehlers-Danlos Syndromes -- Fatty Tissue Nevi -- Nevus Lipomatosus Superficialis -- Nevus Psiloliparus -- 8. Didymotic Skin Disorders -- Allelic Didymosis. -- Capillary Didymosis -- Cutis Tricolor -- Didymosis in Epidermolytic Ichthyosis of Brocq -- Didymosis in Darier Disease -- The Theoretical Concept of Nonallelic Didymosis.
9. Other Binary Genodermatoses, Including "Pseudodidymosis" -- Phacomatosis Pigmentokeratotica: An Example of "Pseudodidymosis" -- Paired Occurrence of Nevus Sebaceus and Melorheostosis -- Paired Occurrence of Nevus Sebaceus and Aplasia Cutis Congenita -- Paired Occurrence of Nevus Psiloliparus and Aplasia Cutis Congenita -- The Group of Phacomatosis Pigmentovascularis -- Phacomatosis Cesioflammea -- Phacomatosis Spilorosea -- Phacomatosis Melanorosea -- Phacomatosis Cesiomarmorata -- Phacomatosis Cesioanemica -- 10. Mosaic Manifestation of Autosomal Dominant Skin Disorders -- Hereditary Multiple Skin Tumors -- Trichoepithelioma -- Trichodiscoma -- Pilomatricoma -- Basaloid Follicular Hamartoma -- Fibrofolliculoma: A Hallmark of Hornstein-Knickenberg Syndrome (alias Birt-Hogg- Dubé Syndrome) -- Syringoma -- Spiradenoma -- Eccrine Poroma -- Cylindromatosis -- Glomangiomatosis -- Blue Rubber Bleb Angiomatosis ("Blue Rubber Bleb Nevus Syndrome").
Lipomatosis -- Neurofibromatosis 1 -- Neurofibromatosis 2 -- Schwannomatosis -- Legius Syndrome -- Leiomyomatosis -- Gorlin Syndrome -- Hereditary Nonsyndromic Multiple Basal Cell Carcinoma -- PTEN Hamartoma Syndrome (Cowden Disease Included) -- Cutaneous Mastocytosis -- Disorders of Keratinization -- Epidermolytic Ichthyosis of Brocq -- Darier Disease -- Hailey-Hailey Disease -- Dowling-Degos Disease, Including the Galli-Galli Variant -- Acanthosis Nigricans -- KID Syndrome -- Autosomal Dominant Dyskeratosis Congenita -- Pachyonychia Congenita of the Jadassohn-Lewandowsky Type -- Disseminated Superficial Actinic Porokeratosis -- Plaque-Type Porokeratosis of Mibelli -- Porokeratosis Palmaris, Plantaris et Disseminata -- Type 2 -- Costello Syndrome -- Acrokeratoelastoidosis -- Disorders of Connective Tissue or Bones -- Tuberous Sclerosis -- Buschke-Ollendorff Syndrome -- Ehlers-Danlos Syndromes -- Marfan Syndrome.
Albright's Hereditary Osteodystrophy -- Hereditary Osteomatosis Cutis -- Zimmermann-Laband Syndrome -- Brachmann-de Lange Syndrome (Cornelia de Lange Syndrome) -- Vascular Disorders -- Hereditary Hemorrhagic Telangiectasia (Osler-Rendu- Weber Syndrome) -- Rhodoid Nevus Syndrome ("Capillary Malformation- Arteriovenous Malformation") -- Blistering Skin Disorders -- Self-Limited Dystrophic Epidermolysis Bullosa (Transient Bullous Dermolysis of the Newborn) -- Transient Superficial Acantholysis Arranged Along Blaschko's Lines in a Newborn -- 11. Revertant Mosaicism -- Revertant Mosaicism in Autosomal DominantSkin Disorders -- Revertant Mosaicism in Autosomal Recessive Skin Disorders -- 12. Nevoid Skin Disorders -- Cutaneous Lesions Reflecting Functional X-Chromosome Mosaicism -- Incontinentia Pigmenti -- Focal Dermal Hypoplasia -- Conradi-H√ľnermann-Happle Syndrome -- MIDAS Syndrome -- Oral-Facial-Digital Syndrome Type 1.
Christ-Siemens-Touraine Syndrome -- X-Linked Dyskeratosis Congenita -- Menkes Syndrome -- IFAP Syndrome -- Aicardi Syndrome -- Reticulate Pigmentary Disorder of Partington -- X-linked Albinism- Deafness Syndrome -- X-linked Dominant Hypertrichosis -- Congenital Autosomal Disorders Representing Non-Nevi -- Benign Skin Tumors Reflecting Lethal Autosomal Mutations Surviving by Mosaicism -- Hemihyperplasia-Multiple Lipomata Syndrome: A Nevoid Disorder of Unknown Origin -- Other Autosomal Non-Nevi -- Nevoid Arrangement of Acquired Skin Disorders -- Lichen Striatus -- Blaschkitis: No Entity, but Either a Variant of Lichen Striatus or an Umbrella Term Including the Linear Manifestation of Various Acquired Inflammatory Skin Disorders -- Lichen Aureus -- Linear Grover Disease -- Linear Juvenile Xanthogranuloma -- Linear Atrophoderma of Moulin -- Superimposed Segmental Manifestation of Common Polygenic Skin Disorders -- 13. A Note on Neoplastic Skin Lesions.
Summary Mosaicism is a powerful biologic concept, originally developed from the study of plants and animals, and is the necessary basis for the explanation of numerous human skin disorders. This lavishly illustrated book presents, for the first time, a comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders. It is structured in a straightforward, reader-friendly way that will help the dermatologist to understand the underlying molecular mechanisms of skin disorders in order to further improve the treatment outcome. The first two parts of the book are devotedto the mechanisms and patterns of cutaneous mosaicism, with explanation of genomic and epigenetic mosaicism and description of the six archetypal patterns, including the lines of Blaschko, as well as less well defined or as yet unclassifiable patterns. In the third part, the various mosaic skin disorders are examined in depth, including nevi, allelic and non-allelic didymosis, other binary genodermatoses, mosaic manifestations of autosomal dominant skin disorders, and nevoid skin disorders. The book concludes with a note on neoplastic skin lesions, examining models of tumorigenesis.
Other Title Print version: Happle, R. (Rudolf). Mosaicism in human skin 9783642387647