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
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.