Huriez Syndrome Caused By A Large Deletion That Abrogates The Skin-Specific Isoform Of Smarcad1

Huriez syndrome (HRZ ; MIM181600) is a rare autosomal dominant genodermatosis, which is characterised by scleroatrophy of the hands and feet, hypoplasia of the nails and palmoplantar keratoderma1,2 . Approximately 15% of HRZ patients are predisposed to cutaneous squamous cell carcinoma (cSCC) which occurs in affected scleroatrophic skin at an early age of 30 to 40 years. cSCC in HRZ may be aggressive, with metastasis and death reported3 .