RESUMO
Dystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in COL7A1, which encodes type VII collagen. Blistering and scarring of the ocular surface develop, potentially leading to blindness. Beremagene geperpavec (B-VEC) is a replication-deficient herpes simplex virus type 1-based gene therapy engineered to deliver functional human type VII collagen. Here, we report the case of a patient with cicatrizing conjunctivitis in both eyes caused by dystrophic epidermolysis bullosa who received ophthalmic administration of B-VEC, which was associated with improved visual acuity after surgery.
Assuntos
Colágeno Tipo VII , Epidermólise Bolhosa Distrófica , Terapia Genética , Humanos , Vesícula/etiologia , Cicatriz/etiologia , Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/complicações , Epidermólise Bolhosa Distrófica/genética , Epidermólise Bolhosa Distrófica/terapia , Conjuntivite/etiologiaAssuntos
Plaquetas , Epidermólise Bolhosa Distrófica/terapia , Sangue Fetal/citologia , Terapia com Luz de Baixa Intensidade , Doenças da Boca/terapia , Mucosa Bucal/efeitos da radiação , Adolescente , Adulto , Criança , Terapia Combinada , Epidermólise Bolhosa Distrófica/diagnóstico , Feminino , Géis , Humanos , Masculino , Doenças da Boca/diagnóstico , Mucosa Bucal/patologia , Projetos Piloto , Estudos Prospectivos , Indução de Remissão , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Epidermolysis bullosa (EB) is a genetic disease associated with fragility and bullous lesions of the skin and mucous membranes. There are various patterns of inheritance and histopathology. The disease is associated with systemic and oral manifestations, among which may be dental decay necessitating oral rehabilitation. General anaesthesia is frequently required for oral rehabilitation in children with dystrophic EB. Paediatric dentists should be aware of the implications of dystrophic EB for dental and anaesthetic management. CASE REPORT: Two siblings with moderate to severe systemic and oral manifestations of dystrophic EB requiring extensive oral rehabilitation for rampant decay are described, including special anaesthetic techniques required for airway management and maintenance of skin integrity. CONCLUSION: Dystrophic EB is a rare genetic disorder in which vesiculobullous lesions occur with erosions and scarring of cutaneous and extracutaneous surfaces in the oral cavity. Poor oral hygiene results from efforts to avoid mucosal trauma, resulting in decay. The comprehensive care of children with dystrophic EB impacts not only dental management but anaesthesia administration as well.