Chinese Journal of Dermatology ›› 2023, Vol. 56 ›› Issue (4): 335-337.doi: 10.35541/cjd.20210927

• Research Reports • Previous Articles     Next Articles

Detection of ATP2C1 gene mutations in a family with generalized familial benign chronic pemphigus

Sun Yujiao, Wang Jianbo, Duan Ziyu, Dou Jinfa, Li Yan, Li Jianguo, Zhang Shoumin   

  1. Department of Dermatology, Henan Provincial People′s Hospital, People′s Hospital of Zhengzhou University, People′s Hospital of Henan University, Zhengzhou 450003, China
  • Received:2021-12-23 Revised:2022-07-02 Online:2023-04-15 Published:2023-03-31
  • Contact: Wang Jianbo; Zhang Shoumin;

Abstract: 【Abstract】 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, and which had not been previously reported. The patient was finally diagnosed with generalized familial benign chronic pemphigus.

Key words: Pemphigus, benign familial, Erythema, Blister, Mutation, ATP2C1 gene