A novel nicastrin mutation in a large Chinese family with hidradenitis suppurativa

Funding sources none. Conflicts of interest none. T.J. and H.D. contributed equally to this work. Madam, Hidradenitis suppurativa (HS), also known as acne inversa, is a chronic, inflammatory, recurrent, debilitating skin disease that usually occurs after puberty, and is characterized by recurrent draining sinuses and abscesses in the apocrine‐gland‐bearing areas of the body, most commonly the axillary, inguinal and anogenital regions. Familial HS has been identified as an autosomal dominant disease (OMIM 142690), and various pathogenic mutations of γ‐secretase genes in HS pedigrees have been reported within the past 2 years.1–7 The γ‐secretase complex is composed of four subunits including presenilin (PSEN), presenilin enhancer 2 (PSENEN), nicastrin (NCSTN) and anterior pharynx defective 1 (APH1). Mutations of PSEN1, PSENEN and NCSTN were identified as being responsible for familial HS, with NCSTN being the most commonly observed (Table 1). Up to now, no mutations in the APH1 genes have been reported in familial HS.