Browsing by Autor "Edimar Quintero"

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    Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura
    (2016) María Angelina Lacruz de Ortega; Gloria Da Silva; Diana Guerrero; Edimar Quintero; Yuri Ordoñez; Francisco R. Cammarata Scalisi
    Cutis laxa is a rare skin disorder, characterized by redundant, inelastic and with an appearance of premature aging. It can be associated with the alteration of other organs involved in their prognosis. It can be inherited or acquired form, local or generalized. It has an estimated incidence of 1 in 1,000,000 births. Genetic studies have discovered a gene network growing required for biogenesis of the elastic fiber in the extracellular matrix and its involvement in the homeostatic maintenance of this integral component of the dermal connective tissue may be involved in the pathophysiology of this entity. We present a case of a child, product of consanguineous marriage with clinical and histopathological diagnosis of cutis laxa with autosomal recessive inheritance pattern.