Huriez syndrome (HRZ) is a rare autosomal dominant genodermatosis characterized by congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous cell carcinoma. It has been reported that mutations in SMARCAD1 cause this syndrome. SMARCAD1 is an ATP-dependent chromatin remodeler of the Snf2 ATPase family.
Gunther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Ruschendorf F, Klein B, Berndt N, Zimmermann N, Flachmeier C, Thuss T, Lucas N, Marenholz I, Esparza-Gordillo J, Hubner N, Traupe H, Delaporte E, Lee YA
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SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.
Loh AYT, Spoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
