Reproductive alternatives for patients with dystrophic epidermolysis bullosa
ABSTRACT Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic,...
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| Format: | Article |
| Language: | English |
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Instituto Israelita de Ensino e Pesquisa Albert Einstein
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| Series: | Einstein (São Paulo) |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082019000300500&lng=en&tlng=en |
| _version_ | 1818571897929990144 |
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| author | Denise Maria Christofolini José Ricardo Magliocco Ceroni Giovanna Guimarães Soares Gustavo Bertollini Lamy Ana Carolina Nemeth Calvo Tamara Alba dos Santos Bianca Del Bel Sonoda Bianca Bianco Caio Parente Barbosa |
| author_facet | Denise Maria Christofolini José Ricardo Magliocco Ceroni Giovanna Guimarães Soares Gustavo Bertollini Lamy Ana Carolina Nemeth Calvo Tamara Alba dos Santos Bianca Del Bel Sonoda Bianca Bianco Caio Parente Barbosa |
| author_sort | Denise Maria Christofolini |
| collection | DOAJ |
| description | ABSTRACT Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junctional and 2% non-classified. Dystrophic epidermolysis bullosa is associated with autosomal, dominant and recessive inheritance. Epidermolysis bullosa causes severe psychological, economic and social impacts, and there is currently no curative therapy, only symptom control. Embryonic selection is available for epidermolysis bullosa patients in order to prevent perpetuation of the condition in their offspring. |
| first_indexed | 2024-12-14T18:50:19Z |
| format | Article |
| id | doaj.art-ba07860856844da384e1020391c9d725 |
| institution | Directory Open Access Journal |
| issn | 2317-6385 |
| language | English |
| last_indexed | 2024-12-14T18:50:19Z |
| publisher | Instituto Israelita de Ensino e Pesquisa Albert Einstein |
| record_format | Article |
| series | Einstein (São Paulo) |
| spelling | doaj.art-ba07860856844da384e1020391c9d7252022-12-21T22:51:17ZengInstituto Israelita de Ensino e Pesquisa Albert EinsteinEinstein (São Paulo)2317-638517310.31744/einstein_journal/2019rc4577S1679-45082019000300500Reproductive alternatives for patients with dystrophic epidermolysis bullosaDenise Maria ChristofoliniJosé Ricardo Magliocco CeroniGiovanna Guimarães SoaresGustavo Bertollini LamyAna Carolina Nemeth CalvoTamara Alba dos SantosBianca Del Bel SonodaBianca BiancoCaio Parente BarbosaABSTRACT Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junctional and 2% non-classified. Dystrophic epidermolysis bullosa is associated with autosomal, dominant and recessive inheritance. Epidermolysis bullosa causes severe psychological, economic and social impacts, and there is currently no curative therapy, only symptom control. Embryonic selection is available for epidermolysis bullosa patients in order to prevent perpetuation of the condition in their offspring.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082019000300500&lng=en&tlng=enEpidermólise bolhosa distróficaColágeno tipo VIIMembrana basalHereditariedadeAconselhamento genético |
| spellingShingle | Denise Maria Christofolini José Ricardo Magliocco Ceroni Giovanna Guimarães Soares Gustavo Bertollini Lamy Ana Carolina Nemeth Calvo Tamara Alba dos Santos Bianca Del Bel Sonoda Bianca Bianco Caio Parente Barbosa Reproductive alternatives for patients with dystrophic epidermolysis bullosa Einstein (São Paulo) Epidermólise bolhosa distrófica Colágeno tipo VII Membrana basal Hereditariedade Aconselhamento genético |
| title | Reproductive alternatives for patients with dystrophic epidermolysis bullosa |
| title_full | Reproductive alternatives for patients with dystrophic epidermolysis bullosa |
| title_fullStr | Reproductive alternatives for patients with dystrophic epidermolysis bullosa |
| title_full_unstemmed | Reproductive alternatives for patients with dystrophic epidermolysis bullosa |
| title_short | Reproductive alternatives for patients with dystrophic epidermolysis bullosa |
| title_sort | reproductive alternatives for patients with dystrophic epidermolysis bullosa |
| topic | Epidermólise bolhosa distrófica Colágeno tipo VII Membrana basal Hereditariedade Aconselhamento genético |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082019000300500&lng=en&tlng=en |
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