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Titlebook: Neurocutaneous Disorders; Phakomatoses & Hamar Martino Ruggieri,Ignacio Pascual-Castroviejo,Conce Book 2008 Springer-Verlag Vienna 2008 Hyp

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发表于 2025-3-21 16:52:12 | 显示全部楼层 |阅读模式
书目名称Neurocutaneous Disorders
副标题Phakomatoses & Hamar
编辑Martino Ruggieri,Ignacio Pascual-Castroviejo,Conce
视频videohttp://file.papertrans.cn/664/663966/663966.mp4
概述Written by internationally renowned clinicians and researchers.Many recently discovered diseases described for the first time.Includes supplementary material:
图书封面Titlebook: Neurocutaneous Disorders; Phakomatoses & Hamar Martino Ruggieri,Ignacio Pascual-Castroviejo,Conce Book 2008 Springer-Verlag Vienna 2008 Hyp
描述Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source ofknowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine.The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
出版日期Book 2008
关键词Hypomelanosis of Ito; Nervous System; Neurofibromatoses; Phakomatoses; Sturge Weber Syndrome; Tuberous Sc
版次1
doihttps://doi.org/10.1007/978-3-211-69500-5
isbn_softcover978-3-7091-1907-5
isbn_ebook978-3-211-69500-5
copyrightSpringer-Verlag Vienna 2008
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Von Hippel-Lindau Disease,lar, brainstem and spinal hemangioblastomas, and endolymphatic sac tumors (ELSTs). Visceral lesions include renal cell carcinomas (RCC), renal cysts, pheochromocytomas, pancreatic cysts and neuroendocrine tumors, as well as cystadenomas of the epididymis and broad ligament (Fig. 1).
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Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia),common than previously thought, and its association to brain, liver and pulmonary lesions are sources of substantial morbidity and mortality and represent even these days a continuing challenge for many sub-specialities (.).
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Incontinentia Pigmenti,ted to non progressive, chronic central nervous system (CNS) involvement (.). Other anatomical regions are less frequently affected. Development of benign subungual tumors involving distal phalanges in adult age is not rare.
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Maffucci Syndrome,s the World Health Organisation classifies the Maffucci syndrome as a subclass of enchondromatosis and defines it as a developmental disorder characterized by the presence of multiple cartilaginous masses and the presence of cutaneous, soft tissue or visceral haemangiomas (.).
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Sturge-Weber Syndrome,features of this triad exist (.). Other clinical features associated with SWS are seizures, glaucoma, headache, transient stroke-like neurological deficits, and behavioural problems. Hemiparesis, hemiatrophy, and hemianopia may occur contralaterally to the cortical abnormality (.).
发表于 2025-3-23 05:17:37 | 显示全部楼层
Embryology of Neurocutaneous Syndromes,tures that share in common developmental lesions of the skin and of the central and peripheral nervous systems. Subcutaneous and systemic involvement is common. In many of these conditions another feature is a tendency to develop tumors in multiple sites of the body. Many of these disorders are hama
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Neurofibromatosis type 1 & Related Disorders, clinical diagnostic criteria and management guidelines have been developed (.; .; .; .; ., .; .; .; .; .). The genes for the two major forms, neurofibromatosis type 1 (NF1) and type 2 (NF2), have been cloned and the gene products, . and . (also called ., respectively, fully characterised (reviewed
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