Work

Ehlers-Danlos Syndrome: A Tale of Two Cases Highlighting Rare Subtypes and Diagnostic Considerations

Year: 2025

Type: article

Abstract: Ehlers-Danlos syndrome (EDS) comprises a group of rare connective tissue disorders marked by multisystem involvement and considerable clinical variability. This report presents two cases of young individuals with complex medical histories involving joint hypermobility, musculoskeletal deformities, ocular abnormalities, and unexplained cardiovascular symptoms. Both cases were initially misclassified under more common subtypes of EDS. However, comprehensive clinical evaluation and application of updated classification criteria led to a re-evaluation of the initial diagnoses. These cases highlight the diagnostic challenges posed by EDS and emphasize the need for heightened clinical suspicion and systematic assessment when encountering atypical presentations.

Source: Cureus

DOI: 10.7759/cureus.93109

Authors: Karubaki Pati, Saumya R Tripathy, Sarit S Patnaik, Manoj K Parida, Bidyut K Das

Institutions: Institute of Post Graduate Medical Education and Research, Sriram Chandra Bhanja Medical College Hospital

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4414472076