SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility

Autor: Benjamin Klein, Tamara Kerscher, Franz Rüschendorf, Christina Flachmeier, Jamina Eckhard, Emmanuel Delaporte, Nick Zimmermann, Theresa Thuß, Claudia Günther, Nicole Berndt, Nadja Lucas, Min Ae Lee-Kirsch, Jorge Esparza-Gordillo, Heiko Traupe, Norbert Hubner, Young-Ae Lee, Ingo Marenholz, Anja Matanovic
Rok vydání: 2017
Předmět:
Zdroj: The Journal of investigative dermatology. 138(6)
ISSN: 1523-1747
Popis: 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.
Databáze: OpenAIRE