Bullous Congenital Ichthyosiform Erythroderma: A Sporadic Case Produced by a NewKRT10Gene Mutation
| Autor: | Irene Ballester, Javier Mataix, Isabel Betlloch, Anna Lucas Costa, María Pérez-Crespo |
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| Rok vydání: | 2009 |
| Předmět: |
Heterozygote
medicine.medical_specialty Pathology Guanine Congenital ichthyosiform erythroderma Hyperkeratosis Dermatology Gene mutation medicine.disease_cause Keratin medicine Humans Point Mutation chemistry.chemical_classification Hyperkeratosis Epidermolytic Mutation Base Sequence integumentary system Ichthyosis business.industry Adenine Infant Newborn DNA Keratin-10 medicine.disease Dyskeratosis Protein Structure Tertiary chemistry Pediatrics Perinatology and Child Health New mutation Female sense organs Staphylococcal Scalded Skin Syndrome business |
| Zdroj: | Pediatric Dermatology. 26:489-491 |
| ISSN: | 1525-1470 0736-8046 |
| DOI: | 10.1111/j.1525-1470.2009.00969.x |
| Popis: | Bullous congenital ichthyosiform erythroderma is an unusual type of inherited ichthyosis by mutations in the genes that encode K1 and K10. We report the case of a girl with typical clinical and histopathologic findings of bullous congenital ichthyosiform erythroderma, who was found to have a new mutation in KRT10 gene, Glu445Lys at position 445, affecting the 2B region of the KRT10 protein, the end of the rod domain, where many other keratin mutations associated with hereditary skin disease have been reported. This new mutation contributes to add to the catalog of bullous congenital ichthyosiform erythroderma mutations known. |
| Databáze: | OpenAIRE |
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