Síndrome de la aracnodactilia contractural: estudio de un caso esporádico y revisión de la literatura

Abstract

RESUMEN: El síndrome de la aracnodactilia contractural es una alteración hereditaria del tejido conectivo, caracterizada por múltiples contracturas congénitas, aracnodactilia, dolicostenomelia, cifoescoliosis, dismorfia de los pabellones auriculares y un patrón de herencia autonómico dominante. Se han Informado aproximadamente 50 casos, a los cuales se adiciona uno nuevo, esporádico. Se discuten algunos aspectos clínicos y genéticos, el diagnóstico diferencial y el manejo de estos pacientes.

ABSTRACT: Phagocytic cells, partcularly neutrophils, are a fundamental part of the host response against agression by infectious as well as non-infectious agents, and they are involved in the generation of tissue damage during inflammatory response. Cell responses of neutrophils depend on a series of closely related events like adherence to and diapedesis through endothelial cells, migration toward the sites of Inflammatlon. phagocytósls and destruction of opsonized particles. All these actions are performed through the perfect integration between the systems of cellular activation and microbicidal mechanisms, both oxygen-dependent and independent. A large portion of the biochemical. molecular and genetic mechanisms that lead to the physlologic response of neutrophils has been elucidated which permits the identificatlon and understandlng of the pathogenesls of disorders affectlng these cells.