Table 1.

Revised diagnostic criteria for PXE (adapted from [28])

Major diagnostic criteria

1. 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 fibers in a skin biopsy taken from clinically affected skin

2. Eye  a. Peau d’orange 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.

3. 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

1. 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

2. Genetics  a. A pathogenic mutation of one allele of the ABCC6 gene

Requirements for the diagnosis of PXE

a. Definitive diagnosis    The presence of two (or more) major criteria not belonging to the same (skin, eye, genetic) category

b. 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

c. Possible diagnosis    The presence of a single major criterion, or    The presence of one or more minor criteria

Sickle cell anemia, beta-thalassemia, and PXE-like phenotype with cutis laxa and multiple coagulation factor deficiency should be excluded, if mutational analysis of ABCC6 is negative or not available. Signs and symptoms in PXE may arise with increasing age. If a patient is <30 years a probable or possible diagnosis of PXE should be considered provisional and dermatologic and ophthalmologic examinations should be repeated after 5 years