Pseudoxanthoma elasticum and differential diagnosis [39 genes]

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, eye, and vascular system. Individuals usually present angioid streaks in the retina associated with retinal hemorrhages and/or characteristic papules on the skin.

The skin has the following characteristics:

• Papules (darker than skin color): usually seen on the lateral side of the neck or in flexion folds, such as the antecubital fossae, armpits, groin, or popliteal fossae.
• Plaques: formed by the fusion of papules.
• Redundant, sagging skin, especially on the neck, armpit, and groin progressively.

1 / 40,000 and 1 / 100,000 newborns.

This service includes pseudoxanthoma elasticum genes and those of entities that can be confused during the differential diagnosis carried out by a dermatologist. Thus, the differential diagnosis is focused on diseases that must be considered during this process due to their superimposable or overlapping skin manifestations with those detected in one form or another of pseudoxanthoma elasticum.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention or palliation of associated comorbidities in patients with pseudoxanthoma elasticum.

Service indicated when there is moderate or high suspicion of the disease after clinical examination.