Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature

Rheumatol Int. 2024 Feb;44(2):379-396. doi: 10.1007/s00296-023-05509-w. Epub 2023 Dec 23.


Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder caused by an autosomal recessive mutation in the ABCC6 gene. It manifests with distinctive clinical symptoms impacting the skin, eyes, and cardiovascular system, along with an elevated risk of cardiovascular diseases. We present a case of a 34-year-old male patient who was initially referred to the rheumatology clinic for evaluation due to suspected large vessel vasculitis. The patient's primary complaint was severe hemifacial pain radiating to the neck and upper limb. Radiological imaging studies unveiled substantial vascular narrowing and collateral vessel formation, prompting further investigation to exclude systemic vasculitis. Intriguingly, the patient also exhibited cutaneous manifestations, which were later confirmed via skin biopsy as consistent with PXE. An ophthalmological examination further revealed the presence of the classic PXE findings of angioid streaks. Given the rarity of PXE and its multifaceted clinical presentation, it can be particularly challenging to diagnose and manage. As such, cases like the one presented here may necessitate a referral to a rheumatologist for evaluation of potential systemic involvement. To provide a comprehensive perspective on PXE, we conducted a systematic review of case reports published in the past decade in English, collected from PubMed, Scopus, and the Directory of Open Access databases. The analysis of these cases will be discussed to shed light on the diversity of PXE's clinical features and the diagnostic and management dilemmas it poses and to facilitate ongoing exploration and research into this intricate condition, ultimately leading to improved care for individuals affected by PXE.

Keywords: Angioid streaks; Pseudoxanthoma Elasticum; Skin biopsy; Vasculitis.

Publication types

  • Systematic Review
  • Case Reports
  • Review

MeSH terms

  • Adult
  • Cardiovascular System* / pathology
  • Humans
  • Male
  • Mutation
  • Pseudoxanthoma Elasticum* / complications
  • Pseudoxanthoma Elasticum* / diagnosis
  • Pseudoxanthoma Elasticum* / genetics
  • Rare Diseases / pathology
  • Skin / pathology
  • Vasculitis* / pathology