Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations
Year: 2014
Type: article
Abstract: Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterized by extensive fragility of the skin, which forms blisters and scars following a minimal friction or mechanical trauma.1 It is inherited as either autosomal recessive (RDEB) or dominant (DDEB) manner. DDEB is characterized by a wide range of clinical heterogeneity. Indeed, the blistering tendency can be relatively mild and limited to areas of considerable trauma, as in the DDEB-pretibial (DDEB-pt), or be more generalized, as in the DDEB-generalized (DDEBgen). 2 A peculiar form of DDEB-gen presents with albopapuloid lesions. DDEB is usually caused by missense mutations in the COL7A1 gene.
DOI: 10.1111/jdv.12645
Institutions: Institut Pasteur de Tunis, Tunis El Manar University, Hopital Universitaire Hedi Chaker, Istituto Dermopatico dell'Immacolata, Istituti di Ricovero e Cura a Carattere Scientifico, Hôpital Necker-Enfants Malades, Inserm, Sorbonne Paris Cité, Institut des Maladies Génétiques Imagine, Université Paris Descartes, Hôpital Charles-Nicolle
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2005330164