Overview
Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder caused by mutations in ABCC6, leading to ectopic calcification of elastic fibers in the skin, eyes, and cardiovascular system. Ocular manifestations include angioid streaks (breaks in Bruch's membrane), peau d'orange fundus, and choroidal neovascularization causing progressive central vision loss. Skin findings (yellowish papules in flexural areas) and cardiovascular complications (peripheral arterial disease, stroke) are also prominent.
Genetics
Caused by ABCC6 mutations affecting ATP-dependent transport and pyrophosphate metabolism. Over 300 mutations identified. Autosomal recessive.
| Gene | Locus | Inheritance | Notes |
|---|---|---|---|
| ABCC6 | 16p13.11 | AR | ATP-binding cassette subfamily C member 6; sole known cause |
Clinical Presentation
Skin (2nd–3rd decade)
- Yellowish papules in neck/axillae/groin
- Lax, redundant skin
- 'Plucked chicken skin' appearance
Ocular (3rd–4th decade)
- Angioid streaks on fundus
- Peau d'orange (mottled RPE)
- Choroidal neovascularization
Cardiovascular
- Peripheral arterial disease
- Premature coronary artery disease
- Gastrointestinal bleeding
Diagnosis
- Skin biopsy: Calcified elastic fibers — gold standard
- Fundus: Angioid streaks radiating from disc, peau d'orange
- OCT/FA: CNV characterization
- Genetic testing: ABCC6 sequencing
- Cardiovascular evaluation: ABI, echocardiography
Current Research & Treatment
Anti-VEGF therapy (ranibizumab, aflibercept) treats CNV. Sodium thiosulfate and magnesium supplementation are being investigated to reduce calcification. PXE International funds research and provides patient support.
Active Clinical Trials
The following active clinical trials are investigating treatments for Pseudoxanthoma Elasticum. Trial status and enrollment may change; always verify directly on ClinicalTrials.gov.