Open AccessA CASE REPORT OF AGGRESSIVE SQUAMOUS CELL CARCINOMA IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
Author(s) -
А. А. Кубанов,
А. Э. Карамова,
В. В. Чикин,
Yekaterina Monchakovskaya,
М. А. Нефедова
Publication year - 2020
Publication title -
voprosy onkologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 11
eISSN - 2949-4915
pISSN - 0507-3758
DOI - 10.37469/0507-3758-2020-66-5-556-562
Subject(s) - epidermolysis bullosa dystrophica , anchoring fibrils , basal cell , dermatology , epidermolysis bullosa , medicine , pathology , disease , gene , cancer research , biology , genetics , basement membrane
Recessive dystrophic epidermolysis bullosa (RDEB) is an orphan genetic skin disease which is caused by mutations in COL7A1 gene. COL7A1 encodes collagen VII - a major component of anchoring fibrils which sustain the dermal-epidermal junction. Non-healing wounds typically are presented in patients with RDEB. They predispose cutaneous squamous cell carcinoma (SCC) development. RDEB-associated SCC is a rapidly growing tumor of aggressive nature which generally arises at young age and results in early mortality. This article reports 2 patients with RDEB-associated SCCs.