Siañez-González C, Pezoa-Jares R, Salas-Alanis J C
Escuela de Medicina del Instituto Tecnológico y de Estudios Superiores de Monterrey, Nuevo León, México.
Actas Dermosifiliogr. 2009 Dec;100(10):842-56.
Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapies are currently under investigation. This review covers aspects of the molecular biology, clinical presentation, diagnosis, and treatment of epidermolysis bullosa relevant to improving the care for affected patients.
大疱性表皮松解症是一组遗传性疾病，全球每17000例活产婴儿中就有1例受其影响。它表现为皮肤和黏膜在受到轻微创伤后出现水疱。这种疾病严重影响患者的生活质量。诊断基于免疫荧光定位和电子显微镜检查。治疗以对症治疗为主，不过目前新的细胞和分子疗法正在研究中。这篇综述涵盖了与改善对受影响患者的护理相关的大疱性表皮松解症的分子生物学、临床表现、诊断和治疗等方面。
