publication . Article . 2004

Involvement of p53 and p16 Tumor Suppressor Genes in Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma

Jack L. Arbiser; Chun-Yang Fan; Xiaobo Su; Beth O. Van Emburgh; Francesca Cerimele; Mark Steven Miller; Jeff Harvell; M. Peter Marinkovich;
Open Access
  • Published: 01 Oct 2004 Journal: Journal of Investigative Dermatology, volume 123, issue 4, pages 788-790 (issn: 0022-202X, Copyright policy)
  • Publisher: Elsevier BV
Abstract
Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive disorder characterized by the loss of collagen type VII, an intrinsic component of the anchoring fibrils, which attach the epidermis to the dermis. Of the genetic blistering disorders, RDEB has the highest rate of morbidity and mortality, with morbidity arising from fusion of digits in a mitten-glove deformity and growth retardation associated with anemia. The leading cause of death in RDEB is cutaneous squamous cell carcinoma, which causes death through invasion and metastasis. In order to better understand the pathogenesis of these rare but aggressive squamous cell carcinoma (SCC), we ...
Subjects
Medical Subject Headings: neoplasms
free text keywords: Cell Biology, Biochemistry, Molecular Biology, Dermatology, carcinoma, epidermolysis bullosa, tumor suppressor, Tumor suppressor gene, Pathology, medicine.medical_specialty, medicine, medicine.disease, Metastasis, Anchoring fibrils, Epidermoid carcinoma, Cancer research, Dominance (genetics), Biology, Cancer
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