Ehlers-Danlos Syndrome (EDS): Clinical Essentials
Ehlers-Danlos syndrome refers to a group of heterogeneous connective tissue disorders characterized by defective collagen synthesis. While there are many subtypes, they generally present with skin hyperextensibility, joint hypermobility, and tissue fragility.
| Clinical Feature | Manifestation |
|---|---|
| Dermatological | Hyperextensible skin, “cigarette-paper” scarring, easy bruising. |
| Musculoskeletal | Joint hypermobility, frequent dislocations (especially shoulder, patella). |
| Vascular/Systemic | Organ rupture (e.g., bowel), berry aneurysms (notable in Vascular type). |
High-Yield Clinical Notes:
- Classical Type: Often involves a mutation in COL5A1 or COL5A2 (Type V collagen).
- Vascular Type: The most severe form, involving a mutation in COL3A1 (Type III collagen). High risk of arterial and organ rupture.
- Differential: Can overlap with Marfan syndrome (hypermobility) and OI (fractures), but is distinct in skin/joint findings.