SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility

Huriez syndrome is a rare dominant genodermatosis characterized by congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous cell carcinoma (CSCC) in approximately 15% of affected individuals (Figure 1a, Supplementary Table S1 online). CSCC in Huriez syndrome is characterized by early onset, localization on scleroatrophic skin, and aggressive metastasis formation (Delaporte et al., 1995; Hamm et al., 1996) suggesting that the local disease-specific skin changes promote malignant transformation.