Detection of ATP2C1 gene mutations in a family with generalized familial benign chronic pemphigus / 中华皮肤科杂志

A 60-year-old female proband presented with recurrent erythema, blisters and erosions all over the body for 30 years, which had been aggravated 10 days prior to the presentation. Skin examination showed erythematous swelling of the bilateral eyelids with scattered dark red crusts, scattered erythema and erosions on the nasolabial folds and chin, large areas of erythema and erosions on the neck, bilateral axillae, left cubital fossa, perineum and perianal area, accompanied by bright red granulation tissues and positive Nikolsky′s sign. The proband had two sons, both of whom occasionally presented with erythema and erosions on the axillae and groin, and had not been diagnosed or treated. Blood samples were collected from the proband and her two sons, and genomic DNA was extracted and subjected to whole-exome sequencing. A heterozygous deletion mutation c.955_957del (p.A319del) was identified in the ATP2C1 gene in the proband and her two sons, which had not been previously reported. The patient was finally diagnosed with generalized familial benign chronic pemphigus.

Expressions of N HERF1 and β-catenin in primary extramammary Paget's disease tissue and their significance / 中华皮肤科杂志

Objective To investigate the expressions of Na+/H+ exchanger regulatory factor 1 (NHERF1) and β-catenin in extramammary Paget's disease tissue as well as their significance.Methods Immunohistochemistry was performed to detect the protein expressions of NHERF1 and β-catenin in paraffin-embeded tissue samples from 18 patients with in situ and 22 patients with invasive extramammary Paget's disease.Results There was a high expression of NHERF1 protein in 18 (81.82％) invasive and 7 (38.89％) in situ extramammary Paget's disease samples (x2 =7.78,P ＜ 0.01).Statistical differences were observed in the membrane expression rate and cytoplasmic or nuclear expression rate of β-catenin between invasive and in situ extramammary Paget's disease tissue samples (0 (0/22) vs.33.33％ (6/18),x2 =8.63,P ＜ 0.01; 81.82％ (18/22) vs.44.44％ (8/18),x2 =6.08,P ＜ 0.05).In extramammary Paget's disease in situ tissue samples,the expression of NHERF1 was negatively correlated with the cytomembrane expression of β-catenin (ρ =-0.488,P ＜ 0.01),but positively correlated with the cytoplasmic or nuclear expression of β-catenin (ρ =0.623,P ＜ 0.01),and there was a negative correlation between the cytomembrane and cytoplasmic or nuclear expression of β-catenin (ρ =-0.572,P ＜ 0.01).Conclusions There is an abnormal expression of NHERF1 and β-catenin in extramammary Paget's disease tissue,which may be associated with the initiation,progression,and invasion of primary extramammary Paget's disease.