Table 1.
PXE patient characteristics
| In this study cohort | Data from the literature | |
|---|---|---|
| Total (n) | 25 | |
| Age (years) | 48.4 ± 13.87 | 31.7 [41], 47 ± 15 [42] |
| Male sex (n) | 8 (32%) | 32% [8], 36% [42] |
| Onset (age; years) | 20 [14–22.5] | 13.54 [43], 21 ± 14 [44] |
| Duration (years) | 20.5 ± 15.8 | |
| Smoking (n) | 10 (40%) | 35% [43], 30% [42] |
| BMI (kg/cm2) | 24.27 (22.93–18.10) | |
| Osteopenia/osteoporosis (n) | 6 (24%) | 23–46% [42] |
| Gastrointestinal hemorrhage (n) | 1 (4%) | 18% [41] |
| Nephrolithiasis (n) | 6 (24%) | 39.8% [45] |
| Skin (n) | ||
| Plaques | 15 (60%) | |
| Redundant skin folds | 7 (28%) | 93% [41] |
| Acneiform lesions | 10 (40%) | |
| Mucosal involvement | 10 (40%) | 21.4% [32] |
| Typical areas | 6.2 ± 1.8 | |
| Atypical areas | 0 [0–1] | |
| CA | 23.3 ± 16.15 | |
| CD | 51.6 ± 22.1 | |
| CS | 1436.0 ± 1182.5 | |
| Elastic fiber number/FOV | 40.8 ± 27.7 | |
| Elastic fiber length (μ m) | 32.3 [25.4–34.9] | |
| Eye (n) | ||
| Peau d’orange | 4 (16%) | 84.9% [44] |
| Angioid streaks | 22 (88%) | 93.75% [35], 92.5% [44] |
| Choroidal neovascularization | 10 (40%) | 42.5% [35], 50.9% [44] |
| Bleeding and/or scarring | 2 (8%) | 44% [44] |
| Macular atrophy | 5 (20%) | 32% [34] |
| Blindness | 5 (20%) | 10.9% [46] |
| Vascular (n) | ||
| Weak or absent pulses | 7 (28%) | |
| Intermittent claudication | 9 (36%) | 42–53% [37] |
| Lower limb revascularization | 0 (0%) | |
| ICAH | 4 (16%) | 8.6% [47] |
| Peripheral artery disease | 7 (28%) | 37–57% [48] |
| High blood pressure | 4 (16%) | 8–25% [37] |
| Stroke/TIA | 1 (4%) | 15% [38] |
| Ankle-brachial index | 1.1 [0.83–1.15] | 0.92 ± 0.19% [48] |
| Cardiac (n) | ||
| Chest pain/angina/abnormal ECG | 5 (20%) | 13–15% [38] |
| Cardiac attack | 0 (0%) | 1–5% [38] |
| Phenodex + score | 5.64 ± 1.8 | |
| S | 2 [1–2.5] | |
| E | 2 [7, 36] | |
| G | 0 [0–0] | |
| V | 1 [0–2] | |
| C | 0 [0–0] | |
| R | 0 [0–0.5] | |
Data is expressed as mean ± standard error for normally distributed continuous variables, median [range] for nonparametric distributed continuous variables and number (%) for categorical variables
CA calcification area, CD calcification density, CS total calcification score, ICAH internal carotid artery hypoplasia, TIA transient ischemic attack, ECG electrocardiography