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Pseudoxanthoma elasticum with cerebrovascular accident

G Nanda Kumar1, K V Ragi, Pradeep S Nair

  • 1Department of Pathology, Medical College Hospital, Trivandrum, Kerala, India. drnandakumar_g@yahoo.co.in

Indian Journal of Dermatology, Venereology and Leprology
|June 15, 2007
PubMed

Insights

This case report details a 65-year-old male with pseudoxanthoma elasticum presenting with cerebrovascular accident, highlighting the association between this rare genetic disorder and neurological events.

Area of Science:

  • Dermatology
  • Neurology
  • Genetics

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by the progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system.
  • While ocular and cardiovascular manifestations are well-documented, the association between PXE and cerebrovascular accidents (CVAs) is less commonly reported.

Observation:

  • A 65-year-old male presented with right hemiparesis and characteristic skin lesions including papules and atrophic plaques.
  • Funduscopic examination revealed angioid streaks, and a CT scan showed basilar artery dilatation with a frontoparietal infarct.
  • Skin biopsy confirmed findings consistent with pseudoxanthoma elasticum, including epidermal atrophy and dermal calcification.

Findings:

  • The patient was diagnosed with pseudoxanthoma elasticum.
  • The presence of a cerebrovascular accident (stroke) was confirmed.
  • Histopathological examination of skin lesions supported the diagnosis of PXE.

Implications:

  • This case underscores the importance of considering PXE in patients with unexplained skin findings and neurological deficits.
  • Early recognition and management of PXE may help mitigate risks of associated cardiovascular and cerebrovascular complications.
  • Further research is warranted to elucidate the precise mechanisms linking PXE to cerebrovascular events and to optimize patient care.

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