A novel ncstn gene mutation in a japanese family with hidradenitis suppurativa

Abstract

Hidradenitis suppurativa (HS) is a chronic, inflammatory, recurrent, debilitating disease of hair follicles with painful, deep-seated, inflamed lesions. Symptoms typically appear in the apocrine gland-bearing areas of the body, especially the axillae, and inguinal and anogenital regions. It has a risk of developing cutaneous squamous cell carcinoma (SCC) (1). In Western countries, some patients with HS have a family history of this disease, and an autosomal dominant trait has been reported in one-third of familial HS (2). Recently, loss-of-function mutations in the presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN), and nicastrin (NCSTN) genes, encoding key components of the γ-secretase complex, have been identified as a cause of familial HS in Chinese, Japanese, and French families (3). Mutations in genes coding γ-secretase subunits seem to be responsible for approximately 5% of HS cases (1).