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Mosaicism in Human Skin "Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia"

235.65
223.87
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.


Table contents

Introduction
Rudolf Happle, Antonio Torrelo
Pages 1-2
Mosaicism as a Biological Concept
Rudolf Happle, Antonio Torrelo
Pages 3-10
The Major Categories of Mosaicism
Rudolf Happle, Antonio Torrelo
Pages 11-41
Relationship Between Hypomorphic Alleles and Mosaicism of X-Linked or Autosomal Mutations
Rudolf Happle, Antonio Torrelo
Pages 43-47
The Archetypical Patterns of Segmental Cutaneous Mosaicism
Rudolf Happle, Antonio Torrelo
Pages 49-65
Less Well-Defined or So Far Unclassifiable Patterns
Rudolf Happle, Antonio Torrelo
Pages 67-70
Nevi
Rudolf Happle, Antonio Torrelo
Pages 71-112
Didymotic Skin Disorders
Rudolf Happle, Antonio Torrelo
Pages 113-117
Other Binary Genodermatoses, in Which Didymosis Is Excluded or Questionable
Rudolf Happle, Antonio Torrelo
Pages 119-126
Mosaic Manifestation of Autosomal Dominant Skin Disorders
Rudolf Happle, Antonio Torrelo
Pages 127-182
Revertant Mosaicism
Rudolf Happle, Antonio Torrelo
Pages 183-188
Nevoid Skin Disorders
Rudolf Happle, Antonio Torrelo
Pages 189-227
Back Matter
Pages 229-243
ISBN
978-3-03-089936-3
EAN
9783030899363
Editor
Springer Verlag Gmbh&Co. Kg
Stock
NO
Idioma
Inglés
Nivel
Profesional
Formato
Encuadernado
Tapa Dura
Páginas
243
Largo
-
Ancho
-
Peso
-
Edición
Fecha de edición
10-01-2023
Año de edición
2023
Nº de ediciones
2
Colección
-
Nº de colección
-