Hipomelanosis de Ito. Presentación de caso
Elayne Esther Santana Hernández, Danay Fuentes Pérez, Yusimi Ricardo Pozo
Resumen
La hipomelanosis de Ito es un sÃndrome neurocutáneo con un grado de despigmentación dérmica variable que puede estar asociado en ocasiones a convulsiones y discapacidad cognitiva. Se presenta un paciente masculino de ocho años, que desde su nacimiento, presenta máculas hipopigmentadas que siguen el recorrido de las lÃneas de Blaschko en los miembros inferiores; a los tres años comenzó con convulsiones tónico clónicas de difÃcil control y se hizo el diagnóstico de la epilepsia. A los cinco años se identificó una discapacidad cognitiva con retardo de las habilidades de aprendizaje para su edad. Se consideró de gran valor el método clÃnico para la delineación correcta del fenotipo, y para poder realizar un diagnóstico precoz y un seguimiento multidisciplinario. Llegar a este diagnóstico clÃnico permitió brindar un adecuado asesoramiento genético a esta familia.
Palabras clave
trastornos de la pigmentación; incontinencia pigmentaria.
Este artÃculo está licenciado bajo la licencia
Creative Commons Reconocimiento-NoComercial 4.0 Internacional .
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