Full Description
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.
Contents
PATTERNS AND MECHANISMS: Mosaicism as a Biological Concept:.- History.- Mosaicism in Plants, Animals, Humans.- Mosaicism Versus Chimerism.- The Mechanisms of Mosaicism .- Genomic Mosaicism of Autosomes.- Epigenetic Mosaicism of autosomes.- Genomic Mosaicism of X Chromosomes.- Epigenetic Mosaicism of X Chromosomes.- The patterns of Mosaicism .- Lines of Blaschko.- Checkerboard Pattern.- Phylloid Pattern.- Patchy Pattern Without Midline Separation.- Lateralization.- Other Patterns, so far Unclassifiable.- MOSAIC SKIN DISORDERS: Nevi.- Melanocytic Nevi.- Other Forms of Pigmentary Mosaicism.- Epidermal Nevi.- Vascular Nevi.- Connective Tissue Nevi.- Nevoid Skin Disorders.- Lyonization (Functional X-Chromosome Mosaicism) in X-Linked Skin Disorders.- Autosomal Non-Nevi.- Neoplastic Skin Lesions.- Benign Tumors.- Malignant Tumors.- CONCLUSION.
