Pseudoxanthoma elasticum: report of two cases

Area of Science:

• Genetics
• Pathology
• Dermatology

Background:

• Pseudoxanthoma elasticum is a rare inherited disorder affecting connective tissue.
• It involves pathological mineralization of elastic fibers, primarily impacting skin, eyes, and the cardiovascular system.

Observation:

• Mutations in the ABCC6 gene cause reduced function of the transmembrane protein MRP6.
• This leads to extracellular material accumulation and mineral deposition in elastic tissues.

Findings:

• The study presents two cases of pseudoxanthoma elasticum.
• Key clinical features and the significance of early diagnosis are highlighted.

Implications:

• Early diagnosis of pseudoxanthoma elasticum is vital for timely management.
• Adequate therapeutic strategies can address associated complications effectively.