TABLE 1.
Revised diagnostic criteria for PXE. 3
| Major diagnostic criteria | |
| Skin | a. Yellowish papules and/or plaques on the lateral side of the neck and/or flexural areas of the body; or |
| b. Increase of morphologically altered elastin with fragmentation, clumping and calcification of elastic fibres in a skin biopsy taken from clinically affected skin | |
| Eye | a. Orange skin of the retina; or |
| b. One or more angioid streaks (ASs), each at least as long as one disk diameter. When in doubt, fluorescein or indocyanine green angiography of the fundus is needed for confirmation. | |
| Genetics | a. A pathogenic mutation of both alleles of the ABCC6 gene; or |
| b. A first‐degree relative (parent, sib, child) who meets independently the diagnostic criteria for definitive PXE | |
| Minor diagnostic criteria | |
| Eye | a. One AS shorter than one disk diameter; or |
| b. One or more ‘comets’ in the retina; or | |
| c. One or more ‘wing signs’ in the retina | |
| Genetics | A pathogenic mutation of one allele of the ABCC6 gene |
| Requirements for the diagnosis of PXE | |
| Definitive diagnossis | The presence of two (or more) major criteria not belonging to the same (skin, eye, genetic) category |
| Probable diagnosis | The presence of two major eye or two major skin criteria, or the presence of one major criterion and one or more minor criteria not belonging to the same category as the major criterion |
| Possible diagnosis | The presence of a single major criterion, or the presence of one or more minor criteria |