Mosaic epidermolytic ichthyosis - case report
Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis o...
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Sociedade Brasileira de Dermatologia,
2013-12-01T00:00:00Z.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_1d2b467c128840c59b0a069523b3d4d7 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Marcela Sena Teixeira Mendes |e author |
| 700 | 1 | 0 | |a Samara Silva Kouzak |e author |
| 700 | 1 | 0 | |a Thaissa Araújo Aquino |e author |
| 700 | 1 | 0 | |a Gustavo Henrique Soares Takano |e author |
| 700 | 1 | 0 | |a Antonio de Padua Lima |e author |
| 245 | 0 | 0 | |a Mosaic epidermolytic ichthyosis - case report |
| 260 | |b Sociedade Brasileira de Dermatologia, |c 2013-12-01T00:00:00Z. | ||
| 500 | |a 0365-0596 | ||
| 500 | |a 10.1590/abd1806-4841.20132203 | ||
| 520 | |a Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient. | ||
| 546 | |a EN | ||
| 546 | |a PT | ||
| 690 | |a Hyperkeratosis, epidermolytic | ||
| 690 | |a Ichthyosis | ||
| 690 | |a Mosaicism | ||
| 690 | |a Dermatology | ||
| 690 | |a RL1-803 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Anais Brasileiros de Dermatologia, Vol 88, Iss 6 suppl 1, Pp 116-119 (2013) | |
| 787 | 0 | |n http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800116&tlng=en | |
| 787 | 0 | |n http://www.scielo.br/pdf/abd/v88n6s1/0365-0596-abd-88-06-s1-0116.pdf | |
| 787 | 0 | |n https://doaj.org/toc/0365-0596 | |
| 856 | 4 | 1 | |u https://doaj.org/article/1d2b467c128840c59b0a069523b3d4d7 |z Connect to this object online. |