Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical...Summary： The ATP2C1 gene mutation in one ease 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 ATP2CI 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 coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.展开更多
Objective To analyze the clinical feature, efficacy of treatment and prognosis in familial benign chronic pemphigus (FBCP) Methods Sixty nine cases of FBCP were retrospectively analyzed Results The ratio of ma...Objective To analyze the clinical feature, efficacy of treatment and prognosis in familial benign chronic pemphigus (FBCP) Methods Sixty nine cases of FBCP were retrospectively analyzed Results The ratio of male to female is 3 93:1 in 69 patients (55 males, 14 females) The mean age at the onset was 29 09 years (3-60 years) There was familial history in 27 families in all of the cases The lesion usually involved in genital area, neck, axillae and popliteal fossa Erythemas and vesicles on the soles were seen only in 1 case Histopathologically 44 cases had special features of FBCP, and immunopathologically 8 cases were direct immunofluorescence (DIF) negative, in which one case had C3 linear deposition along dermoepidermal junction The combined regimen was more effective The low dose X ray could improve the effect Conclusion The disease is transmitted as an irregular autosomal dominant trait The condition in males is more frequent than that in females, probably owing to the different level of female hormone in both sexes Our patients have the same clinical features as those reported in the literature, but the erythema, vesicle lesions on sole have not been documented in the literature The combined therapy should be adopted in this condition展开更多
文摘Summary： The ATP2C1 gene mutation in one ease 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 ATP2CI 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 coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
文摘Objective To analyze the clinical feature, efficacy of treatment and prognosis in familial benign chronic pemphigus (FBCP) Methods Sixty nine cases of FBCP were retrospectively analyzed Results The ratio of male to female is 3 93:1 in 69 patients (55 males, 14 females) The mean age at the onset was 29 09 years (3-60 years) There was familial history in 27 families in all of the cases The lesion usually involved in genital area, neck, axillae and popliteal fossa Erythemas and vesicles on the soles were seen only in 1 case Histopathologically 44 cases had special features of FBCP, and immunopathologically 8 cases were direct immunofluorescence (DIF) negative, in which one case had C3 linear deposition along dermoepidermal junction The combined regimen was more effective The low dose X ray could improve the effect Conclusion The disease is transmitted as an irregular autosomal dominant trait The condition in males is more frequent than that in females, probably owing to the different level of female hormone in both sexes Our patients have the same clinical features as those reported in the literature, but the erythema, vesicle lesions on sole have not been documented in the literature The combined therapy should be adopted in this condition
