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1. 遺伝性皮膚疾患：概要the genodermatoses an overview [show details]
… Inherited syndromes associated with cutaneous vascular abnormalities include ataxia-telangiectasia (AT)…or heterozygous mutation in the SOX10 gene . Neurocutaneous genetic disorders, also called phakomatoses, may present with a variety of neurologic and cutaneous findings. Examples include the neurofibromatoses …
2. 新生児における血管病変vascular lesions in the newborn [show details]
… developmental delay, and structural brain abnormalities . The vascular lesions often fade during the first few years of life. Phakomatosis pigmentovascularis (PPV) is a rare syndrome characterized by …
3. 中枢神経系の血管奇形vascular malformations of the central nervous system [show details]
…angiodysplastic phenomenon resulting from faulty embryogenesis of the vascular wall and have been associated with angiomatous phacomatoses such as Osler-Weber-Rendu (hereditary hemorrhagic telangiectasia) …
4. もやもや病：病因、臨床的特徴、および診断moyamoya disease etiology clinical features and diagnosis [show details]
… Vascular changes in moyamoya are associated with evidence of increased angiogenesis-related factors, including endothelial colony-forming cells, various cytokines, vascular endothelial… and dysmorphism ; Neurofibromatosis type 1 ; Noonan syndrome ; Phakomatosis pigmentovascularis type IIIb ; Prader-Willi syndrome…
5. Infantile spasms: Etiology and pathogenesisinfantile spasms etiology and pathogenesis [show details]
…abnormality is a malformation of the CNS. Others include chromosome and other genetic disorders, neurocutaneous disorders, inborn errors of metabolism, and intrauterine infections. Cortical dysplasia is the most …