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008			221124s2023 sz | fo |||| 0|eng d
020			_a9783030899370
024	7		_a10.1007/978-3-030-89937-0 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRL71 _b2023 EB
100	1		_aHapple, R. _eautor _4aut _4http://id.loc.gov/vocabulary/relators/aut _988736 _q(Rudolf)
245	1	0	_aMosaicism in Human Skin : _bUnderstanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia _cby Rudolf Happle, Antonio Torrelo
250			_a2nd ed. 2023
264		1	_aCham _bSpringer International Publishing _c2023
300			_a1 recurso en línea
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_aPATTERNS 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.
520			_aThis 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. .
988			_aSpringer_Medicine_2023
650		7	_2embne _9139590 _aDermatología
700	1		_9690382 _aTorrelo, Antonio _eautor
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-030-89937-0 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b06/2024 _dz _eb _zSI