16 mar. Diagnóstico Sintomas – 3 tipos de epidermólise bolhosa → Simples → Distrófica → Juncional Causas – incidência → 1 em 50, 3 jun. Epidermólise Bolhosa (EB) O que é? Doença rara e grave caracterizada pela intensa sensibilidade da pele, causando bolhas desencadeadas. Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos. Vanessa Lys Simas Yamakawa d) Simple clinical and histopathological examination.

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Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Uitto J, Pulkkinen L. Molecular epidegmolise of heritable blistering disorders. Arch Dermatol ; Revised classification system for inherited epidermolysis bullosa: J Am Acad ; Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

J Invest Dermatol ; The clinical spectrum of epidermolysis bullosa simplex. Br J Dermatol ; epidermolisee Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene KRT A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.

Expression of a truncated keratin 5 may contribute to severe palmo-plantar hyperkeratosis in epidermolysis bullosa simplex patients. Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.

Mol Biol Cell ; A hot-spot mutation alters the mechanical properties of keratin filament networks. Nat Cell Biol ; 3: An inducible mouse model for epidermolysis bullosa simplex: J Cell Biol ; A keratin 14 knockout mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.


HL, Schumann H, et al. An update on keratin mutations in epidermolysis bullosa simplex Dowling-Meara in press. Am J Pathol ; J Dermatol Sci ; Biology and function of hemidesmossomes.

Matrix Biol ; Aumailley M, Krieg T.

Epidermólise Bolhosa (EB) by Sara Fontes on Prezi

J Invest Dermatol ; Aumailley M, Rousselle P. Laminins of the dermo-epidermal junction.

Herlitz junctional epidermolysis bullosa: Identification wpidermolise a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis. Novel mutations in the LAMB3 gene shared by two japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

Predominance ot the recurrent mutation RX in the LAMB3 gene in european patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of pakistani ancestry: Combination of a novel frameshift mutation delCA and a recurrent nonsense mutation WX of the LAMB3 gene in a japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

Junctional epidermolysis bullosa gravis Herlitz: J Eu Acad Dermatol Venereol ; Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.

Biology of anchoring fibrils: Molecular basis of dystrophic epidermolysis bullosa: Human Mut ; Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. Premature termination codons in the type VII collagen gene COL7A1 underlie severe, mutilating recessive dystrophic epidermolysis bullosa. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. Arch Dermatol Res ; epidermolse Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.


Prenat Diagn ; Glycine substitution mutations by different amino acids epidermolkse the same codon of COL7A1 lead to heteregeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Pretibial dystrophic epidermolysis bullosa: Generalized dystrophic epidermolysis bullosa: Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

Is screening of the candidate gene necessary in unrelated partners of members of peidermolise with Herlitz junctional epidermolysis bullosa? Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol ; 9: Gene therapy for genetic skin disease. Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmossomes in reconstructed epithelia.

Gene Ther ; 5: Assinale a alternativa correta: Assinale a alternativa incorreta: Assinale a alternativa falsa. Na EBD a clivagem ocorre: Assinale a alternativa correta.

Epidermolysis bullosa nevus: case report and literature review

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