A novel c.671_682del NCSTN variant in a family with Hidradenitis Suppurativa

The proband, a 21-year-old male and his 45-year-old mother were being seen at the dermatology department in view of hidradenitis suppurativa (HS). Both patients had Hurley Stage IIIa HS and shared a follicular, Latent Class 2 phenotype, necessitating treatment with multiple courses of antibiotics, surgery and biological agents. Despite their phenotypic similarities (including involvement of atypical locations such as the neck), the proband (asthenic and a non-smoker) presented with an earlier-onset disease and a more severe phenotype than his mother (Figure 1).