Resumen

Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosisdeafness síndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.

Palabras clave: KID syndrome A88V mutation keratoderma.

2016-07-20   |   482 visitas   |   Evalua este artículo 0 valoraciones

Vol. 68 Núm.3. Mayo-Junio 2016 Pags. 143-146 Rev Invest Clin 2016; 68(3)