[海利-海利病:一个病例报告]
Jesús Sebastián Rodríguez-Gutiérrez1, Antonio Tirado-Motel1, Jesús Leonel Sarabia-Esquerra1
1Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Hospital Regional "Dr. Manuel Cárdenas de la Vega", Servicio de Dermatología. Culiacán, Sinaloa, México.
Revista medica del Instituto Mexicano del Seguro Social
|August 8, 2024
概括
海利-海利病是一种罕见的遗传疾病,由ATP2C1突变引起,呈现为容易破裂的囊泡. 诊断包括组织病理学,显示出"破旧的墙"的外观.
科学领域:
- 皮肤病学 皮肤病学
- 遗传学 是一个遗传学.
背景情况:
- 海利-海利病是一种罕见的自体主导性基因皮肤病.
- 它源于ATP2C1基因的突变,大约影响5万个个体中的1个.
- 这种情况表现为容易破裂的,分组的软软水囊.
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