Multigenerational Huriez syndrome with marked intrafamilial heterogeneity and cutaneous squamous cell carcinoma burden.

Abstract

Huriez syndrome is a rare SMARCAD1-associated genodermatosis with variable clinical expression and cutaneous cancer risk. We describe a multigenerational family with a SMARCAD1 splice-site duplication affecting the skin-specific isoform, associated with marked phenotypic heterogeneity. This case highlights the importance of molecular diagnosis for cancer surveillance and family counselling.