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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
Summary
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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