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1. 遺伝性皮膚疾患：概要the genodermatoses an overview [show details]
…is synthesized in melanocytes, which are specialized, dendritic secretory cells derived from the neural crest. These cells migrate to the basal layer of the epidermis during embryogenesis. The presence … 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]
…melanocytes, both derived from neural crest . All ethnic groups may be affected . Five types of PPV have been identified , the most common being type II or phakomatosis cesioflammea (port wine stain plus …
3. 点頭てんかんの病因および発症機序etiology and pathogenesis of infantile spasms [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 …
4. シェーグレン・ラルソン症候群sjogren larsson syndrome [show details]
… Sjogren-Larsson syndrome (SLS; MIM #270200) is an autosomal recessive neurocutaneous disorder caused by an inborn error of metabolism involving fatty alcohol oxidation. The disorder was first described…
5. 新生児や乳児の皮膚病変skin lesions in the newborn and infant [show details]
…patients with cleft lip, implying a common pathogenic defect in migration of cells from the neural crest . In phakomatosis pigmentovascularis type II, aberrant congenital dermal melanocytosis spots are seen …

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