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

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.

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Publication Details

Journal
Cureus
Published
2025-09-24
DOI
https://doi.org/10.7759/cureus.93109
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
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article

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

Bidyut Kumar Das, Saumya Ranjan Tripathy, Manoj Kumar Parida, Sarit S Patnaik et al.
Cureus
Connective tissue disorders research
article

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

Bidyut Kumar Das, Saumya Ranjan Tripathy, Manoj Kumar Parida, Sarit S Patnaik, Karubaki Pati
article en

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.

CureusVol. 17(9)
Sriram Chandra Bhanja Medical College Hospital (IN), Institute of Post Graduate Medical Education and Research (IN)
Openalex Percentile: Top 72%
Connective tissue disorders research
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Ehlers-Danlos Syndrome: A Tale of Two Cases Highlighting Rare Subtypes and Diagnostic Considerations — Bidyut Kumar Das, Saumya Ranjan Tripathy, et al. · Cureus (2025) | TGRS Research Map | TGRS