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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

Record number: 1, Textual support number: 1 OBS

La epidermólisis bullosa distrófica es una enfermedad hereditaria rara debida a mutaciones del gen COL7A1. Su variante recesiva(EBDR) se caracteriza por una marcada disminución o ausencia completa de colágeno tipo VII.  1, record 1, Spanish, - epiderm%C3%B3lisis%20bullosa%20distr%C3%B3fica%20recesiva

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 CONT

Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder. The skin of people with DEB is more fragile than normal. Minor injury causes blisters or ulcers that may be slow to heal and often leave scars. DEB can be mild, but it can also be severe, affecting the mouth, oesophagus (gullet), eyes and nails in addition to the skin.  3, record 2, English, - dystrophic%20epidermolysis%20bullosa

Record number: 2, Textual support number: 1 OBS

Q81.2: code used in the International Statistical Classification of Diseases and Related Health Problems.  4, record 2, English, - dystrophic%20epidermolysis%20bullosa

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 CONT

L'épidermolyse bulleuse dystrophique (EBD) est une maladie génétique causée par la déficience en collagène VII et caractérisée par la formation de bulles au niveau de la peau. Les formes les plus sévères peuvent également conduire à la formation de plaies chroniques et à la fibrose des tissus mous qui contribuent de façon importante à la morbidité associée à la maladie.  3, record 2, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique

Record number: 2, Textual support number: 1 OBS

Q81.2 : code de la Classification statistique internationale des maladies et des problèmes de santé connexes.  4, record 2, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique

Record 2,  Textual support,  Spanish

Record number: 2, Textual support number: 1 CONT

Epidermólisis bullosa distrófica es un concepto general que agrupa todas las formas de epidermolisis bullosa en el que la formación de ampollas tiene lugar en la capa más profunda de la piel, es decir, en la dermis.  1, record 2, Spanish, - epidermolisis%20bullosa%20distr%C3%B3fica

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 OBS

DDEB is an autosomal dominant condition. One parent of an affected person will usually also have the condition.  1, record 3, English, - dominant%20dystrophic%20epidermolysis%20bullosa

Record number: 3, Textual support number: 2 OBS

There is usually generalized blistering noted at birth. Blistering may be generalized or appear only on the hands, feet, elbows or knees: this is usually due to mechanical trauma. Rarely does scarring cause immobility and deformity of the hands and feet. Small cysts or milia are seen at sites of scarring. There may be mild involvement of the mucous membranes, nails may be thick, dystrophic or destroyed.  1, record 3, English, - dominant%20dystrophic%20epidermolysis%20bullosa

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 CONT

L'EBD [épidermolyse bulleuse dystrophique] comprend deux sous-types, soit les formes dominantes (EBDD) et récessives (EBDR [épidermolyse bulleuse dystrophique récessive]), qui diffèrent par leur mode de transmission.  2, record 3, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique%20dominante

Record 3,  Textual support,  Spanish

Record number: 3, Textual support number: 1 CONT

Las formas más localizadas, como la epidermólisis bullosa distrófica dominante pretibial y la pruriginosa, no presentan complicaciones específicas, salvo en el caso de la segunda, las derivadas del rascado.  1, record 3, Spanish, - epiderm%C3%B3lisis%20bullosa%20distr%C3%B3fica%20dominante