TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 OBS

RDEB is an autosomal recessive inherited condition. This means both parents are carriers, yet they are unaffected. When each parent has a copy of the altered gene, there is a 1 in 4 chance or 25% that the child will be affected.  1, record 1, English, - recessive%20dystrophic%20epidermolysis%20bullosa

Record number: 1, Textual support number: 2 OBS

Although in some cases this form of EB [epidermolysis bullosa] can be mild with generalized blistering, typically the recessive forms of EB tend to be more severe. Onset is usually at birth with areas of missing skin. Generalized blistering then scarring can occur on skin surfaces and mucous membranes. Scarring may limit range of motion of extremities. Fusion of fingers and toes and contractures cause deformity and loss of function.  1, record 1, English, - recessive%20dystrophic%20epidermolysis%20bullosa

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 CONT

L'EB [épidermolyse bulleuse] dystrophique est causée par des mutations dominantes ou récessives du gène COL7A1 qui code pour le collagène de type VII [...] Les mutations pathologiques conduisent à la production d'un collagène de type VII non fonctionnel ou à son absence. En conséquence, les fibrilles d'ancrage de la jonction dermo-épidermique ne sont pas assemblées correctement ou ne sont pas formées, ce qui réduit l'adhérence entre le derme et l'épiderme et provoque des plaies. Les patients atteints d'EBDR souffrent donc de ces plaies pendant toute leur vie [...]  2, record 1, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique%20r%C3%A9cessive

Record 1,  Textual support,  Spanish