SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility
Authors
- C. Günther
- M.A. Lee-Kirsch
- J. Eckhard
- A. Matanovic
- T. Kerscher
- F. Rüschendorf
- B. Klein
- N. Berndt
- N. Zimmermann
- C. Flachmeier
- T. Thuß
- N. Lucas
- I. Marenholz
- J. Esparza-Gordillo
- N. Hübner
- H. Traupe
- E. Delaporte
- Y.A. Lee
Journal
- Journal of Investigative Dermatology
Citation
- J Invest Dermatol 138 (6): 1428-1431
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.