Abstract:

Xiao Xuemin, Li Chengrang, He Yanyan, Zhang Xiaofeng, Xu Haoxiang, Wang Baoxi Department of Dermatology, Union Hospital, Fujian Medical University, Fuzhou 350001, China （Xiao XM）; Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College; Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing 210042, China （Li CR, He YY, Zhang XF, Xu HX）; Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100144, China （Wang BX） Corresponding authors: Xu Haoxiang, Email: xbpipi@163.com; Wang Baoxi, Email: wangbx@ncstdlc.org 【Abstract】 Objective To measure s of nicastrin and its downstream Notch-HES signaling pathway-associated proteins in skin lesions of patients with acne inversa harbouring nicastrin gene mutations. Methods An immunohistochemical study was performed to measure the s of nicastrin and Notch-HES signaling pathway-associated proteins in paraffin-embeded skin samples from lesions of 4 patients with acne inversa and confirmed nicastrin mutations and from normal skin of 6 human controls. Spearman correlation analysis was carried out to assess the relationship between the s of nicastrin and Notch-HES signaling pathway-associated proteins. Results In normal control skin samples, nicastrin was widely distributed in the full-thickness epidermis and skin appendages such as pilosebaceous units, apocrine glands and eccrine glands. However, the s of nicastrin and Notch-HES signaling pathway-associated proteins were markedly decreased in the epidermis and hair follicle infundibulum in lesions of patients harbouring nicastrin gene mutations compared with normal control skin. Furthermore, nicastrin was positively correlated with Notch1, Notch3 and HES-1 s （r = 0.831, 0.748 and 0.807, P < 0.01, 0.05 and 0.01 respectively）, but not significantly correlated with Notch2 or HES-5 s （r = 0.597, 0.591 respectively, both P > 0.05）. Conclusion Nicastrin markedly decreases in lesions of patients with acne inversa harbouring nicastrin gene mutations, and is positively correlated with the s of several Notch-HES signaling pathway-associated proteins, suggesting that the decrease in nicastrin may take part in the pathogenesis of acne inversa by influencing the of the downstream Notch-HES signaling pathway.