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

Abstract

Dear Editor, We report two patients with hidradenitis suppurativa (HS). The proband was a 21-year-old man. He and his 45-year-old mother were being seen at the dermatology department for HS. Both patients had Hurley Stage IIIa with a follicular, latent class (LC)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 (who was asthenic and a nonsmoker) presented with an earlier-onset disease and a more severe phenotype compared with his mother (Fig. 1). A detailed genetic history revealed that the proband’s (estranged) maternal grandmother also had a mild form of axillary HS. The rest of the family members were unaffected. In view of these findings, a familial form of HS with variable expressivity was suspected. Following informed consent, a genetic study was carried out.