RESUMEN
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.
Asunto(s)
Colágeno Tipo VII , Epidermólisis Ampollosa Distrófica , Terapia Genética , Humanos , Vesícula/etiología , Cicatriz/etiología , Colágeno Tipo VII/genética , Epidermólisis Ampollosa Distrófica/complicaciones , Epidermólisis Ampollosa Distrófica/genética , Epidermólisis Ampollosa Distrófica/terapia , Conjuntivitis/etiologíaAsunto(s)
Plaquetas , Epidermólisis Ampollosa Distrófica/terapia , Sangre Fetal/citología , Terapia por Luz de Baja Intensidad , Enfermedades de la Boca/terapia , Mucosa Bucal/efectos de la radiación , Adolescente , Adulto , Niño , Terapia Combinada , Epidermólisis Ampollosa Distrófica/diagnóstico , Femenino , Geles , Humanos , Masculino , Enfermedades de la Boca/diagnóstico , Mucosa Bucal/patología , Proyectos Piloto , Estudios Prospectivos , Inducción de Remisión , Factores de Tiempo , Resultado del Tratamiento , Adulto JovenAsunto(s)
Humanos , Femenino , Preescolar , Niño , Epidermólisis Ampollosa Distrófica/terapia , Arsenicum Album/uso terapéutico , HomeopatíaRESUMEN
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.