title: Novel Mutations inPSENENGene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.
abstract: BACKGROUND
  Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI.
  
  
  METHODS
  In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing.
  
  
  RESULTS
  Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G.
  
  
  CONCLUSIONS
  The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.
authors.affiliation: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhou
authors.affiliation: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Guang-Dong
authors.initials: GD
authors.lastname: Wen
authors.affiliation: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Lwin Myint
authors.initials: LM
authors.lastname: Soe
authors.affiliation: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Hong-Jun
authors.initials: HJ
authors.lastname: Xu
authors.affiliation: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Du
authors.affiliation: Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Jian-Zhong
authors.initials: JZ
authors.lastname: Zhang
mesh_terms: D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D017497:Hidradenitis Suppurativa / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012868:Skin Abnormalities / Q000175:diagnosis; D012873:Skin Diseases, Genetic / Q000175:diagnosis; D017444:Skin Diseases, Papulosquamous / Q000175:diagnosis
chemical_list: D008565:Membrane Proteins; C469349:PSENEN protein, human; D053829:Amyloid Precursor Protein Secretases