Table 1.
Inheritance | Autosomal dominant |
Molecular Basis | COL5A1; COL5A2; COL1A1; COL3A1 |
Major Criteria | 1. Skin hyperextensibility and atrophic scarring |
2. Generalized joint hypermobility | |
Minor Criteria | 1. Easy bruising |
2. Soft, doughy skin | |
3. Skin fragility (or traumatic splitting) | |
4. Molluscoid pseudotumors | |
5. Subcutaneous spheroids | |
6. Hernia | |
7. Epicanthal folds | |
8. Complications of joint hypermobility | |
9. Family history of first-degree relative who meets clinical criteria |
Adapted from Malfait et al. 2017 [2].