RESUMEN
The ATP2C1 gene mutation in one case of familial benign chronic pemphigus was investigated. One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2C1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was concluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
Asunto(s)
ATPasas Transportadoras de Calcio/genética , Análisis Mutacional de ADN , Pénfigo Familiar Benigno/genética , Eliminación de SecuenciaRESUMEN
El pénfigo benigno crónico familiar o enfermedad de Hailey-Hailey es una dermatosis de rara observación, autosómica dominante, vésicoampollar, cuyas lesiones se localizan típicamente en áreas intertriginosas. Se describen formas atípicas, una de las cuales es la "tricofitoide", que se documenta en esta presentación