Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura
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...
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| Format: | Article |
| Language: | English |
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Universidad de Los Andes
2016-12-01
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| Series: | Avances en Biomedicina |
| Subjects: | |
| Online Access: | http://erevistas.saber.ula.ve/index.php/biomedicina/article/view/8065 |
| _version_ | 1811286956785532928 |
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| author | María Angelina Lacruz de Ortega Gloria Da Silva Diana Guerrero Edimar Quintero Yuri Ordoñez Francisco R. Cammarata Scalisi |
| author_facet | María Angelina Lacruz de Ortega Gloria Da Silva Diana Guerrero Edimar Quintero Yuri Ordoñez Francisco R. Cammarata Scalisi |
| author_sort | María Angelina Lacruz de Ortega |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T03:09:05Z |
| format | Article |
| id | doaj.art-c13e8bfb0def4852b9a4dd7cc74d3605 |
| institution | Directory Open Access Journal |
| issn | 2244-7881 |
| language | English |
| last_indexed | 2024-04-13T03:09:05Z |
| publishDate | 2016-12-01 |
| publisher | Universidad de Los Andes |
| record_format | Article |
| series | Avances en Biomedicina |
| spelling | doaj.art-c13e8bfb0def4852b9a4dd7cc74d36052022-12-22T03:05:08ZengUniversidad de Los AndesAvances en Biomedicina2244-78812016-12-0153196201Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literaturaMaría Angelina Lacruz de Ortega0Gloria Da Silva1Diana Guerrero2Edimar Quintero3Yuri Ordoñez4Francisco R. Cammarata Scalisi 5Servicio de Neuropediatría. Departamento de Puericultura y Pediatría. Universidad de Los Andes. Mérida, VenezuelaUnidad de Genética Médica. Departamento de Puericultura y Pediatría. Universidad de Los Andes. Mérida, VenezuelaHospital San Rafael de Tunja, Boyacá, ColombiaFacultad de Medicina. Universidad de Los Andes. Mérida, Venezuela.Facultad de Medicina. Universidad de Los Andes. Mérida, Venezuela.Unidad de Genética Médica. Departamento de Puericultura y Pediatría. Universidad de Los Andes. Mérida, VenezuelaCutis 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.http://erevistas.saber.ula.ve/index.php/biomedicina/article/view/8065Cutis laxaclinicalhistopathologygenetic classificationpathogenesis |
| spellingShingle | María Angelina Lacruz de Ortega Gloria Da Silva Diana Guerrero Edimar Quintero Yuri Ordoñez Francisco R. Cammarata Scalisi Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura Avances en Biomedicina Cutis laxa clinical histopathology genetic classification pathogenesis |
| title | Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura |
| title_full | Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura |
| title_fullStr | Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura |
| title_full_unstemmed | Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura |
| title_short | Cutis laxa autosómica recesiva Descripción fenotípica de un caso y revisión de la literatura |
| title_sort | cutis laxa autosomica recesiva descripcion fenotipica de un caso y revision de la literatura |
| topic | Cutis laxa clinical histopathology genetic classification pathogenesis |
| url | http://erevistas.saber.ula.ve/index.php/biomedicina/article/view/8065 |
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