No abstract

Acne inversa (AI, OMIM 142690), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent and debilitating skin follicular disease that usually presents after puberty with painful, deep-seated, inflamed lesions in the apocrine gland-bearing areas of the body, most commonly the axilla, inguinal and anogenital regions.(1) The prevalence of AI has been estimated at 1 in 100 to 1 in 600.(2) Of patients with AI, 35-40% have a positive family history.(3) The pattern of transmission is consistent with autosomal dominant inheritance.(4) In 2006, Gao et al.(5) mapped the AI gene at chromosome 1p21.1-1q25.3. In 2010, Wang et al.(6) were the first to identify mutations of γ-secretase genes responsible for AI among six Chinese families. γ-Secretase is a transmembrane protease composed of four essential protein subunits: one catalytic presenilin (PSEN1) subunit and three cofactor subunits [presenilin enhancer 2 (PSENEN), nicastrin (NCSTN) and anterior pharynx defective 1 (APH1)]. Two, one and three mutations were found in PSENEN, PSEN1 and NCSTN, respectively. Here, we report a heterozygous nonsense c.1695T>G mutation and a heterozygous missense c.632C>G mutation of the NCSTN gene in two Chinese AI families.

Target gene identification of amplifications or homozygous deletions will help to reveal the mechanism of tumor formation and explore new therapy method.