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EPIDERMOLISIS BULLOSA DISTROFICA RECESIVA [1 record]
Record 1 - internal organization data 2025-01-28
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Epidermis and Dermis
Record 1, Main entry term, English
- recessive dystrophic epidermolysis bullosa
1, record 1, English, recessive%20dystrophic%20epidermolysis%20bullosa
correct, noun
Record 1, Abbreviations, English
- RDEB 1, record 1, English, RDEB
correct
Record 1, Synonyms, English
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, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Épiderme et derme
Record 1, Main entry term, French
- épidermolyse bulleuse dystrophique récessive
1, record 1, French, %C3%A9pidermolyse%20bulleuse%20dystrophique%20r%C3%A9cessive
correct, feminine noun
Record 1, Abbreviations, French
- EBDR 1, record 1, French, EBDR
correct, feminine noun
Record 1, Synonyms, French
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, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Epidermis y dermis
Record 1, Main entry term, Spanish
- epidermólisis bullosa distrófica recesiva
1, record 1, Spanish, epiderm%C3%B3lisis%20bullosa%20distr%C3%B3fica%20recesiva
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
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
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