Pseudoxanthoma Elasticum (PXE)

PXE is associated with dystrophic mineralization of connective tissues and affects multiple organs including the skin, eyes and cardiovascular system. The specific clinical findings include lax and inelastic skin, angioid streaks of the retina, and mineralization of the mid-laminar layer of blood vessels of the gastrointestinal tract and cardiovascular system. Onset is often in late childhood or adolescence when yellowish cutaneous papules are noted, most commonly, on the neck, axillae and antecubital fossae. However, in many cases the initial physical finding is retinal angioid streaks corresponding with breaks in the elastin-rich Bruch’s membrane of the choroids. As the disease progresses, fragile new vessels may grow through the angioid streaks and hemorrhage, resulting in central vision loss. Affects on the cardiovascular system may include hypertension, intermittent claudication, gastrointestinal bleeding, and rarely myocardial infarction. Mineralization of elastic structures, the hallmark of PXE, results from altered function of the multidrug resistance associated protein 6 (MRP6), the protein encoded by the ATP-binding cassette family C member 6 (ABCC6) gene.

Tests Available

Forms and Documents

Test Details

ABCC6
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2642
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Bergen et al., (2000) Nat Genet 25(2):228-31
  2. Pfendner et al., (2008) Expert Opin Me. Diagn 2(1):1-17
  3. Laube & Moss, (2005) Arch Dis Child 90:754-756
  4. Chassaing et al., (2005) J Med Genet 42:881-892
  5. Le Saux et al., (2001) Am J Hum Genet 69: 749- 764
  6. Pfendner et al. (2007) J Med Genet 44:621-628

Forms and Documents

Test Details

ABCC6
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2641
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
* For price inquiries please email zebras@genedx.com

References

  1. Pfendner et al. (2007) J Med Genet 44:621-628
  2. Le Saux et al., (2001) Am J Hum Genet 69: 749- 764.
  3. Chassaing et al., (2005) J Med Genet 42:881-892
  4. Laube & Moss, (2005) Arch Dis Child 90:754-756
  5. Bergen et al., (2000) Nat Genet 25(2):228-31
  6. Pfendner et al., (2008) Expert Opin Me. Diagn 2(1):1-17