Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome is a systemic condition charaterised by degeneration of elastic fibers. It has multi-organ manifestations.

Its prevalence is estimated to be around 1 in 25,000 9

Patients may present with a characteristic xanthomatous papular rash and retinal angioid streaks. The clinical spectrum is wide and can include

  • abnormal tissue mineralisation in various organs (e.g. liver, kidneys, spleen, breast, and testes)
  • angiomatous malformations: can result in gastrointestinal haemorrhage
  • aneurysmal dilatation
    • can potentially involve any vessel (intracranial 5, renal 4)
    • if in the mesentery: can result in gastrointestinal haemorrhage
  • narrowing and/or occlusion of visceral or peripheral arteries
  • cerebrovascular events: can be ischaemic or haemorrhagic 6
  • optic disc drusen 7

It is characterised by ectopic mineralisation with subsequent fragmentation of elastic fibers of connective tissues, including skin, vascular walls, and the eyes.

The presence of fragmented basophilic elastic fibers in the upper and middle reticular dermis and calcification of elastic fibers are considered a characteristic histological findings.

Genetics 

It is largely known to have an autosomal-recessive inheritance although an autosomal-dominant inheritance has been proposed in some occasional cases 9.

It was first described in 1881by D Rigal 8.

Share article

Article information

rID: 34097
System: Vascular
Sections: Pathology, Syndromes
Synonyms or Alternate Spellings:
  • Pseudoxanthoma elasticum (PXE)
  • Gronblad–Strandberg syndrome

Support Radiopaedia and see fewer ads

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.