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SUSPECTED VASCULAR EHLERS DANLOS SYNDROME. CASE REPORT

Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: Reporte de un caso y revisión de literatura.

Author
Cevallos B, Carolina; Pontificia Universidad Católica de Chile.

Vargas, Emilio; Departamento de Dermatología, Pontificia Universidad Católica de Chile

González B, Sergio; Departamento de Anatomía Patológica, Pontificia Universidad Católica de Chile

Molgó, Montserrat; Departamento de Dermatología, Pontificia Universidad Católica de Chile

Full text
http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6324
Abstract
Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.
 
Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.
 
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Discipline
Artes, Arquitectura y UrbanismoCiencias Agrarias, Forestales y VeterinariasCiencias Exactas y NaturalesCiencias SocialesDerechoEconomía y AdministraciónFilosofía y HumanidadesIngenieríaMedicinaMultidisciplinarias
Institutions
Universidad de ChileUniversidad Católica de ChileUniversidad de Santiago de ChileUniversidad de ConcepciónUniversidad Austral de ChileUniversidad Católica de ValparaísoUniversidad del Bio BioUniversidad de ValparaísoUniversidad Católica del Nortemore

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