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J Pediatr ; 141(4): 553-9, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12378197

RESUMO

OBJECTIVE: To evaluate the effects of a treatment with artificial skin bioequivalents in Herlitz junctional epidermolysis bullosa (H-JEB). METHODS: Two infants, both homozygous for the Herlitz mutation R635X in the LAMB3 gene, who had refractory anemia and hypoproteinemia as a result of a continuous loss of body fluids through multiple large erosions, were treated with artificial skin bioequivalents. RESULTS: In the first patient, 10 of 13 acute or chronic wounds were found healed 3 to 6 weeks after the treatment, and the protein, iron, and hemoglobin levels normalized. Normal weight gain and marked improvement of the quality of life for this patient's family have been evident since. Nine treated wounds remained healed for at least 18 weeks and appeared to be more resistant to trauma. In a skin biopsy from a treated site obtained after 9 weeks, DNA of the graft was still detectable by polymerase chain reaction. In the second patient, who was treated at a late stage of the disease, only 2 of 18 chronic wounds were found healed at 3 weeks after the treatment. One site remained healed completely, and some additional islets of the grafts persisted for longer. There were no adverse events. CONCLUSION: Early treatment with artificial skin substitutes may improve the clinical course of H-JEB. However, a true cure of the cutaneous manifestations of H-JEB would require gene therapy of autologous epidermal stem cells, which could then be transplanted by using this or a similar cultured skin bioequivalent.


Assuntos
Epidermólise Bolhosa Juncional/terapia , Pele Artificial , Biópsia , Moléculas de Adesão Celular/genética , Epidermólise Bolhosa Juncional/diagnóstico , Epidermólise Bolhosa Juncional/genética , Éxons/genética , Feminino , Seguimentos , Humanos , Lactente , Bem-Estar do Lactente , Mutação/genética , Polimorfismo Genético/genética , Qualidade de Vida , Análise de Sequência de DNA , Pele/patologia , Transplante de Pele , Equivalência Terapêutica , Resultado do Tratamento , Cicatrização , Calinina
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