Hidradenitis suppurativa (HS) is a chronic relapsing inflammatory skin disease that presents with painful nodules, abscesses, and sinus in apocrine gland-bearing area. Familial HS (OMIM # 142690) usually shows an autosomal dominant inheritance pattern and appears to be genetically heterogeneous1).  Mutations in γ-secretase genes NCSTN, PSENEN and PSEN1 have been reported in a small number of familial and sporadic cases2). We found a novel heterozygous NICSTN mutation c.1285C>T (p.R429del) in a Japanese familial HS patient with secondary squamous cell carcinoma (SCC).

A novel γ-Secretase Gene Mutation in a Japanese family with Hidradenitis