家族性反常性痤疮/化脓性汗腺炎一例  

A case of familial acne inverse/hidradenitis suppurativa

作　　者：何艳艳 马骁 王雯竹 李诚让[1] 王宝玺[2] 惠云 徐浩翔[1] HE Yan-yan;MA Xiao;WANG Wen-zhu(Department of Dermatology,Peking Union Medical College and Chinese Academy of Medical Sciences,Nanjing 210042,China)

机构地区：[1]北京协和医学院·中国医学科学院·皮肤病医院(研究所),南京210042 [2]北京协和医学院·中国医学科学院·整形外科医院 [3]中国人民解放军东部战区总医院皮肤科

出　　处：《实用皮肤病学杂志》2022年第6期379-381,共3页Journal of Practical Dermatology

基　　金：国家自然科学基金(82073471,81703148,81472905);南京医科大学科技发展基金项目(NMUB2020154);江苏南京江宁区科技惠民计划项目(20212021NJNQKJHMJHXM0133)

摘　　要：23岁男性患者,项部、胸部及臀部毛囊性炎性丘疹、结节、脓肿伴瘢痕5年。家族成员有类似皮损表现。皮肤科情况:项部多发炎性丘疹、结节、脓肿,可挤出脓性分泌物,胸部散在红色丘疹、结节,臀部可见脓肿贯通形成窦道,伴白色条索样或萎缩性瘢痕形成。项部皮损组织病理:毛囊周围及真皮上部可见以中性粒细胞为主的混合炎性细胞浸润。基因测序显示NCSTN基因第11外显子第1300位胞嘧啶突变为胸腺嘧啶(c.1300C>T),导致第434位密码子由CGA(精氨酸)变为TGA(终止密码子)。家族中其他患者有相同突变,未患病成员及50名正常对照均未发现上述突变。诊断:反常性痤疮/化脓性汗腺炎。治疗:多西环素100mg每日2次口服。治疗4周后,患者炎性丘疹及分泌物明显改善,部分皮损留有瘢痕。随访3个月,项部、胸部及臀部皮损较稳定,背部有部分新发炎性丘疹及结节。A 23-year-old male patient presented with follicular inflammatory papules,nodules,and abscesses on the neck,chest,and buttocks with scarring for 5 years.The family members had similar skin lesions.Dermatologic condition:multiple inflammatory nodules and abscesses,accompanied by purulent secretions,could be found on the neck.Red papules and nodules were scattered on the chest.In addition,there were sinuses and white funiform or atrophic scars formation on the buttocks.Histopathologic examination of neck:epidermis was partially absent and mixed inflammatory cells,mainly neutrophils,infiltrated around hair follicles and upper dermis.Gene sequencing result:there was a nonsense mutation c.1300C>T in the NCSTN gene,which caused the 434th codon to be changed from CGA(arginine)to TGA(termination codon).None of the above-mentioned mutations were found in other unaffected family members and 50 healthy controls.Acne inversa/hidradenitis suppurativa was diagnosed and doxycycline,100 mg twice daily,was used for treatment.After 4 weeks,the inflammatory papules and secretions were significantly improved,and some skin lesions were left with scars.During the follow-up for 3 months,the skin lesions of neck,chest and buttocks were stable,but some new inflammatory papules and nodules appeared on the back.

关 键 词：痤疮 反常性 化脓性汗腺炎 呆蛋白 基因突变 

分 类 号：R758.746[医药卫生—皮肤病学与性病学]