Table 2.
Clinical and molecular features in pseudoxanthoma elasticum (PXE) patients.
| Cases | Age | Mutations | Clinical manifestations |
Phenodex Score | Other manifestations | ||||
|---|---|---|---|---|---|---|---|---|---|
| Skin (S) | Eye (E) | Vascular (V) | Gastrointestinal (G) | Cardiac (C) | |||||
| PXE 1 | 27 | R1114C Q378X |
Papules | Angioid streaks | None | None | None | Total score 3 S1/E2/V0/G0/C0 |
None |
| PXE 2 | 27 | Del 23–29 Y62H |
Laxity | Angioid streaks | None | bleeding | None | Total score 6 S3/E2/V0/G1/C0 |
None |
| PXE 3 | 33 | Del 23–29 Y62H |
Laxity | Angioid streaks | None | None | None | Total score 5 S3/E2/G0/V0/C0 |
None |
| PXE 4 | 33 | R1141X R1141X |
Laxity | Angioid streaks | None | None | None | Total score 5 S3/E2/V0/G0/C0 |
None |
| PXE 5 | 33 | R1114C Q378X |
Papules | Angioid streaks | None | None | None | Total score 3 S1/E2/V0/G0/C0 |
|
| PXE 6 | 43 | R1141X R1141X |
Laxity | Scarring | Intermittent claudication | None | Stroke | Total score 10 S3/E3/V2/G0/C2 |
Hypertension, kidney stones |
| PXE 7 | 57 | R1114C Q378X |
Laxity | Scarring | None | None | None | Total score 6 S3/E3/V0/G0/C0 |
Kidney stones |
| PXE 8 | 59 | R600H R1314Q |
Papules | Scarring | None | Bleeding | None | Total score 5 S1/E3/V0/G1/C0 |
Hypertension, kidney stones |