Skip to content
Use your HSA or FSA funds

Condition report · Dermatological

Pseudoxanthoma Elasticum

An inherited condition in which elastic fibres in the skin, eyes and blood vessels gradually become calcified. It causes yellowish skin papules, can affect central vision, and can narrow arteries.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 2 conditions we analyse

Pseudoxanthoma elasticum

Autosomal recessive

Calcification of elastic fibres caused by ABCC6 variants, affecting skin, the retina (angioid streaks) and arteries.

What a diagnosis changes

Regular eye checks allow early anti-VEGF treatment of retinal bleeding; arterial disease and gastrointestinal bleeding are monitored, and contact sports are best avoided.

Genes analysed

Also known as

inherited Gronblad Strandberg syndrome; inherited PXE; pseudoxanthoma elasticum (changed to inherited pseudoxanthoma elasticum)

Includes 2 related subtypes ↓
  • autosomal recessive inherited pseudoxanthoma elasticum
  • pseudoxanthoma elasticum, forme fruste
MONDO:0100091MedGen 697574

PXE-like skin laxity with vitamin K-dependent clotting factor deficiency

Autosomal recessive

A GGCX disorder with PXE-like skin changes and reduced levels of clotting factors.

What a diagnosis changes

Clotting tests and vitamin K supplementation may be advised.

Genes analysed

Also known as

pseudoxanthoma elasticum-like syndrome; PXE-like syndrome

MONDO:0012570OMIM 610842Orphanet 91135MedGen 332067

Limitations

  • ABCC6 has closely similar pseudogenes, which can make parts of the gene harder to read accurately, and some disease-causing changes are larger deletions that rely on copy-number analysis.

Other dermatological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium