Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling  

作　　者：Xue-Min Xiao Peng-Jun Zhou Chang-Hua Zhu Li-Hang Lin Jing-Jing Liu Yue Han 

机构地区：[1]Department of Dermatology,the Union Hospital,Fujian Medical University,Fuzhou,Fujian 350001,China [2]Department of Dermatology,the Second Affiliated Hospital,Fujian Medical University,Quanzhou,Fujian 362000,China.

出　　处：《Chinese Medical Journal》2020年第19期2383-2385,共3页中华医学杂志（英文版）

基　　金：grants from the National Natural Science Foundation of China(No.81602785);the Natural Science Foundation of Fujian Province(No.2017J05128);Fujian Provincial Health Technology Project(No.2019-ZQN-47);the Opening Foundation of Research Platform of Fujian University of Traditional Chinese Medicine(No.X2018018-Platform).

摘　　要：To the Editor:Acne inversa(AI),also known as hidradenitis suppurativa,is a chronic recurrent inflammatory skin disease characterized by deep painful nodules and abscesses with resultant scarring mainly distributed in intertriginous areas.Loss-of-function mutations in g-secretase(GS)genes are responsible for familial AI.[1]GS is a transmembrane protease composed of four essential protein subunits:one catalytic presenilin subunit(PSEN)and three cofactor subunits(nicastrin[NCSTN],presenilin enhancer 2[PSENEN],anterior pharynx defective 1).GS is involved in cleavage of various type I membrane proteins,including amyloid precursor protein and Notch proteins.PSENEN directly binds to PSEN and is required for its autocatalytic cleavage and protease activity.To date,six mutations have been reported in PSENEN,all of which result in frameshift truncations and altered protein products,predominantly leading to haploinsufficiency.[2]Psoriasis is a genetically-determined proliferative and inflammatory entity,resulting from complex interactions between aberrant keratinocyte proliferation and differentiation,and a T-lymphocytemediated immune process.Dowling-Degos disease(DDD),a rare autosomal dominant disorder,is characterized by progressive reticulate hyperpigmentation and small darkbrown hyperkeratotic papules,mainly affecting flexural areas.[3]Herein,we report a proband and three other members of a three-generation Chinese Han AI family with co-occurrence of psoriasis and DDD,respectively.

关 键 词：NOTCH IMPAIRED PSORIASIS 

分 类 号：R758.746[医药卫生—皮肤病学与性病学] R758.63[医药卫生—临床医学]