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SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility
- Source :
- The Journal of investigative dermatology. 138(6)
- Publication Year :
- 2017
-
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.
- Subjects :
- 0301 basic medicine
Adult
Keratinocytes
Male
medicine.medical_specialty
Cutaneous squamous cell carcinoma
Skin Neoplasms
Primary Cell Culture
Dermatology
Haploinsufficiency
Biochemistry
Polymorphism, Single Nucleotide
Malignant transformation
030207 dermatology & venereal diseases
03 medical and health sciences
Scleroderma, Localized
Young Adult
0302 clinical medicine
Skin cancer susceptibility
Medicine
Humans
Genetic Predisposition to Disease
Molecular Biology
Cells, Cultured
Early onset
Skin
Whole Genome Sequencing
business.industry
Genodermatosis
DNA Helicases
Huriez syndrome
Cell Biology
Keratosis
Fibroblasts
Middle Aged
medicine.disease
Pedigree
Isoenzymes
030104 developmental biology
Increased risk
Carcinoma, Squamous Cell
Female
business
Subjects
Details
- ISSN :
- 15231747
- Volume :
- 138
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- The Journal of investigative dermatology
- Accession number :
- edsair.doi.dedup.....a90b5f243bb5f868fb6525d3b61230ee