RESUMO
Los avances recientes en el campo de la terapia génica, tales como el desarrollo de ARN de cadena corta inhibitorios (ARNsi) capaces de silenciar la expresión de alelos mutados dominantes, ofrecen nuevas expectativas para el tratamiento de la queratodermia plantar en pacientes con paquioniquia congénita. Revisamos brevemente las características clínicas de esta entidad y describimos un estudio de fase 1 que arrojó resultados prometedores. Los mismos serían aplicables a todo el campo de las enfermedades monogénicas.
Recent advances in the genetic therapy field like development of short inhibitory RNA (RNAsi) capable of silencing mutant dominant alleles, offer new expectations for treatment of plantar keratoderma in patients with pachyonichya congenita. We briefly review clinical features of this entity and describe a fase 1 study that showed promising results that may be usefull for the whole monogenic diseases field.
Assuntos
Humanos , RNA Interferente Pequeno/uso terapêutico , Calosidades/terapia , Paquioníquia Congênita/terapia , Ceratodermia Palmar e Plantar/terapia , Fenitoína/uso terapêutico , Retinoides/uso terapêuticoRESUMO
A study to assess the effect of soap soaks and plain water soaks on the dry anaesthetic sole of 15 leprosy patients bearing multiple fissures and callouses is reported. A callous scraper devised by us was found effective. It is recommended that a hypotonic keratolytic solution such as toilet soap or plain water be used for soaking which has the effect of softening the keratin. It may be better to use soap solution for this purpose.