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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
EC20 Genetic disorders of keratinisation
H02915 Huriez syndrome
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
Title
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
Title
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
