Table 1.
Clinical and genetic features of PXE, GACI, and ACDC.
| Characteristics | PXE | GACI | ACDC |
|---|---|---|---|
| Genetic basis | |||
| Mutated genes | ABCC6, ENPP1 | ENPP1, ABCC6 | NT5E |
| Clinical features | |||
| Yellowish skin papules | Yes | Rare | No |
| Mineralization in skin lesions | Yes | Yes | No |
| Retinal angioid streaks | Yes | Rare | No |
| Vascular calcification | Yes | Yes | Yes (lower extremity) |
| Periarticular calcification | No | Yes | Yes |
| Hearing loss | No | Yes | No |
| Hypophosphatemic rickets | No | Yes (survivors) | No |
| Age at onset | Adolescence, early adulthood | Pre- and perinatal onset | Adult onset |
| Life expectancy | Mostly normal | Demise common <6 months | Normal |
| Plasma PPi levels | Reduced to ~40% | Reduced to 0 | Reduced to ~50% |
PXE, pseudoxanthoma elasticum; GACI, generalized arterial calcification of infancy; ACDC, arterial calcification due to deficiency of CD73.