Article information
Abstract
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.
Key words:
epidermolysis bullosa
molecular biology
treatment
Resumen
La epidermólisis ampollosa (EA) engloba un grupo de enfermedades hereditarias que afectan a uno de cada 17.000 nacidos vivos en el mundo. Consiste en la formación de ampollas ante el menor traumatismo que afectan a la piel y a las mucosas. Esta enfermedad empeora seriamente la calidad de vida. El diagnóstico se realiza principalmente por mapeo por inmunofluorescencia y microscopía electrónica. El tratamiento es sintomático, aunque se están investigando nuevas terapias celulares y moleculares. Esta revisión presentará información relevante sobre la biología molecular, la sintomatología clínica, el diagnóstico y el tratamiento de la EA, con la clara intención de proporcionar un mejor cuidado a los pacientes que padecen esta enfermedad.
Palabras clave:
epidermólisis ampollosa
biología molecular
tratamiento
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