Biologie de la peau

Recessive dystrophic epidermolysis bullosa

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Recessive dystrophic epidermolysis bullosa (RDEB) is a gene encoding type VII collagen, the major component of anchoring fibrils at the basement membrane zone (BMZ). The anchoring fibrils provide the functional integrity to the skin, as they serve to adhere the epidermis to the underlying dermis. Therefore, a lack or deficiency of type VII collagen causes skin fragility, chronic blistering, and erosions. Clinically, patients with RDEB suffer from recurrent blisters involving the skin, oral mucosae, gastrointestinal tract, and genitourinary tract. Eventually, blisters in the skin heal with scarring, resulting in severe deformities, such as pseudosyndactyly (fusion of the digits). Occasionally, the blisters and erosions become infected, resulting in sepsis and multiple organ failure. The development of multiple aggressive metastatic squamous cell carcinomas is considered the most common cause of death in patients with RDEB.

For more details, see :

Uitto J, McGrath JA, Rodeck U, Bruckner-Tuderman L, Robinson EC. Progress in epidermolysis bullosa research : toward treatment and cure. J Invest Dermatol. 2010 Jul ;130(7):1778-84. Epub 2010 Apr 15. Review. PubMed PMID : 20393479.

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