Characterization of a novel mutation in the NCSTN gene in a large Chinese family with acne inversa

Abstract

Acne inversa (AI; also known as hidradenitis suppurativa; OMIM:142690) is a chronic follicular occlusive skin disorder that usually starts after puberty and is characterized by recurrent abscesses, draining sinuses and progressive scarring in apocrine gland-bearing areas of the body, most commonly the axillae, anorectal and perineal areas. Although AI was considered a rare disease in the past, the disorder has been estimated to have a prevalence rate of about 1% in the general population, and one-third of patients with AI are estimated to have a positive family history (1, 2).The pathogenesis of AI is complex and far from fully clarified, but several factors, such as obesity, smoking, hormones, secondary bacterial infections and genetic factors, seem to play a role (1-3). In 2006, Gao et al. (4) mapped the genetic locus responsible for AI to chromosome 1p21.1-1q25.3. Wang et al. (5) performed linkage analyses and whole-exome sequencing and, in 2010, identified λ-secretase genes as a cause of AI. Recently, a spectrum of pathogenic mutations in λ-secretase genes in AI pedigrees has been reported (6, 7).