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SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility

Item Type:Letter
Title:SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility
Creators Name:Günther, C. and Lee-Kirsch, M.A. and Eckhard, J. and Matanovic, A. and Kerscher, T. and Rüschendorf, F. and Klein, B. and Berndt, N. and Zimmermann, N. and Flachmeier, C. and Thuß, T. and Lucas, N. and Marenholz, I. and Esparza-Gordillo, J. and Hübner, N. and Traupe, H. and Delaporte, E. and Lee, Y.A.
Abstract: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.
Keywords:Cultured Cells, DNA Helicases, Fibroblasts, Genetic Predisposition to Disease, Haploinsufficiency, Isoenzymes, Keratinocytes, Keratosis, Localized Scleroderma, Pedigree, Primary Cell Culture, Single Nucleotide Polymorphism, Skin, Skin Neoplasms, Squamous Cell Carcinoma, Whole Genome Sequencing
Source:Journal of Investigative Dermatology
Page Range:1428-1431
Date:June 2018
Official Publication:https://doi.org/10.1016/j.jid.2018.01.015
PubMed:View item in PubMed

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