Neurocutaneous syndromes are disorders that lead to growth of tumors in various parts of the body. They are caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body and eyes, including the nervous system and by certain differences in the skin. The most common neurocutaneous syndromes include, neurofibromatosis, Sturge_Weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and, von Hippel-Lindau disease. Symptoms vary widely and while present early may not express until later in life. Molecular medicine and genetic science is continuing to impact our understanding of neurocutaneous syndromes. This content here will include the latest molecular and genetic science and be supported by current animal models. * Comprehensive coverage of neurocutaneous syndromes. * Details the latest molecular and genetic science related to neurocutaneous syndromes. * A focused reference for clinical practitioners and the neuroscience, clinical neurology and neurogenetics research communities. INDICE: 1: Genetics of neurocutaneous disorders: Overview of principles of inheritance as they apply to neurocutaneous syndromes2: Phenotypic expression of neurocutaneous disorders: Discussion of variable expression of neurocutaneous syndromes - manifesting as tumorigenesis, developmental anomalies or vessel anomaliesNeurocutaneous syndromes3: Neurofibromatosis Type 14: Neurofibromatosis Type 25: Tuberous sclerosis complex6: Multiple Endocrine Neoplasia 27: Neurocutaneous melanosis8: Nevoid basal cell carcinoma (Gorlin) syndrome9: Cowden disease10: von Hippel-Lindau disease11: Sturge-Weber syndrome12: PHACE syndrome13: Hereditary Hemorrhagic Telangiectasia14: Ataxia telangiectasia15: Pseudoxanthoma Elasticum16: Ehlers Danlos syndromes17: Blue Rubber Bleb Nevus syndrome18: Fabry disease19: Hutchison-Gilford progeria syndrome20: Encephalocraniocutaneous lipomatosis21: Incontinentia pigmenti22: Hypomelanosis of Ito23: Epidermal nevus syndrome24: Lipoid proteinosis
- ISBN: 978-0-444-62702-5
- Editorial: Elsevier
- Encuadernacion: Cartoné
- Páginas: 704
- Fecha Publicación: 01/09/2015
- Nº Volúmenes: 1
- Idioma: Inglés