1. Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: reporte de un caso y revisión de literatura
- Author
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Montserrat Molgó, Emilio Vargas, Sergio González B, and Carolina Cevallos B
- Subjects
medicine.medical_specialty ,Heterogeneous group ,genetic structures ,Genetic heterogeneity ,business.industry ,Genetic Diseases, Inborn ,Connective tissue ,General Medicine ,medicine.disease ,Dermatology ,Hip dysplasia (canine) ,eye diseases ,medicine.anatomical_structure ,Ehlers–Danlos syndrome ,medicine ,Joint hypermotility ,Translucent skin ,Ehlers-Danlos Syndrome ,sense organs ,business ,Connective Tissue Diseases ,Nose - 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.
- Published
- 2018