[Pseudoxanthoma elasticum. Clinically typical but frequently overlooked]

Area of Science:

• Dermatology and Ophthalmology

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissues.
• It typically presents with characteristic skin lesions and can lead to systemic complications.

Observation:

• A 52-year-old male presented with lifelong yellowish papules on skin folds, neck, abdomen, and lips.
• He experienced angina at 47, requiring bypass surgery, and later developed progressive vision loss in both eyes due to arterial occlusion and angioid streaks.
• Physical examination revealed absent pulses in multiple peripheral arteries.

Findings:

• Fundoscopy showed bilateral macular pigmentary changes, retinal arterial diameter variations, and angioid streaks.
• Biopsy confirmed pseudoxanthoma elasticum with characteristic elastin fiber changes.
• Serum lipid levels were only slightly elevated, suggesting PXE as the primary driver of vascular issues.

Implications:

• This case highlights the significant ocular and cardiovascular morbidity associated with pseudoxanthoma elasticum.
• Early diagnosis and multidisciplinary management are crucial for patients with PXE.
• Further research into the pathogenesis and treatment of PXE-related vascular complications is warranted.