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A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes 被引量:1

A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes
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摘要 To the Editor: Acne inversa (AI; OM1M: 142690) is a painful chronic follicular disease, characterized by recurrent draining sinuses and abscesses with subsequent scarring and chronic seepage, predominantly in skin folds that carry terminal hairs and apocrine glands. It mainly affects the scalp, neck, the axillae, perineum, and inframammary regions. AI significantly affects patients' quality of life because of the chronic and recurrent nature of symptoms as well as the lack of satisfying treatment options. To the Editor: Acne inversa (AI; OM1M: 142690) is a painful chronic follicular disease, characterized by recurrent draining sinuses and abscesses with subsequent scarring and chronic seepage, predominantly in skin folds that carry terminal hairs and apocrine glands. It mainly affects the scalp, neck, the axillae, perineum, and inframammary regions. AI significantly affects patients' quality of life because of the chronic and recurrent nature of symptoms as well as the lack of satisfying treatment options.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2016年第14期1759-1760,共2页 中华医学杂志(英文版)
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  • 1Gao M, Wang PG, Cui Y, Yang S, Zhang YH, Lin D, et al. Inversa ache (hidradenitis suppurativa): A case report and identification of the locus at chromosome 1p21.1-1q25.3. J Invest Dermatol 2006;126:1302-6. doi: 10.1038/sj.jid.5700272.
  • 2Wang B, Yang W, Wen W, Sun J, Su B, Liu B, et al. Gamma-secretase gene mutations in familial acne inversa. Science 2010;330:1065. doi: 10.1126/science. 1196284.
  • 3Liu Y, Gao M, Lv YM, Yang X, Ren YQ, Jiang T, et al. Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in ache inversa (hidradenitis suppurativa). J Invest Dermatol 2011;131:1570-2. doi: 10.1038/jid.2011.62.
  • 4Jiao T, Dong H, Jin L, Wang S, Wang J. A novel nicastrin mutation in a large Chinese family with hidradenitis suppurativa. Br J Dermatol 2013;168:1141-3. doi: 10.1111/bjd.12135.
  • 5Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratnsis. Nat Genet 2012;44:1156-60. doi: 10.1038/ng.2409.

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