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PHACE Syndrome: Persistent Fetal Vascular Anomalies. A Case Report
V Prochazka1, T Hrbac, J Chmelova
1Center of Vascular Interventions, Vítkovice Hospital j.s.; Ostrava-Vítkovice, Czech Republic - angio@vol.cz.
Summary
PHACE syndrome, a rare neurocutaneous disorder, typically affects infants. This case highlights a complete PHACE syndrome expression with persistent fetal vascular anomalies in a 55-year-old woman.
Area of Science:
- Neurocutaneous disorders
- Vascular anomalies
- Medical case reports
Background:
- PHACE syndrome is a complex neurocutaneous disorder characterized by specific malformations.
- It typically presents in infancy with a defined set of features.
- Late-onset or unusual presentations are rare.
Purpose of the Study:
- To report an unusual case of PHACE syndrome.
- To describe a complete expression of PHACE syndrome in an adult.
- To highlight persistent fetal vascular anomalies in this context.
Main Methods:
- Case report analysis
- Clinical examination
- Review of medical literature
Main Results:
- A 55-year-old woman presented with complete PHACE syndrome.
- The patient exhibited large bilateral facial and neck hemangiomas.
- Posterior fossa circulation insufficiency and persistent fetal vascular anomalies were noted.
Conclusions:
- PHACE syndrome can manifest with persistent fetal vascular anomalies in adulthood.
- This case expands the known spectrum of PHACE syndrome presentation.
- Adult-onset PHACE syndrome requires consideration in complex vascular and malformation cases.
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