PHACES syndrome with small, late-onset hemangiomas
Birgin Torer1, Hande Gulcan, Hasan Kilicdag
1Department of Pediatrics, Faculty of Medicine, Baskent University, Ankara, Turkey. btorer@baskent-adn.edu.tr
European Journal of Pediatrics
|January 16, 2007
Summary
PHACES syndrome, a rare disorder, may present without hemangiomas initially. This case highlights that hemangiomas can develop later in infancy, alongside congenital hypothyroidism, suggesting a broader spectrum for PHACES syndrome diagnosis.
Area of Science:
- Pediatric Genetics
- Dermatology
- Endocrinology
Background:
- PHACES syndrome is a complex congenital disorder characterized by multiple anomalies.
- Hemangiomas are a key diagnostic feature, typically present at birth or early infancy.
- The syndrome involves cerebrovascular, cardiac, and other structural defects.
Observation:
- A neonate presented with cardiac defect, sternal nonunion, supraumbilical raphe, and congenital hypothyroidism.
- Crucially, the infant had no discernible hemangiomas at birth.
- Facial hemangiomas emerged at two months of age.
Findings:
- This case demonstrates that hemangiomas, a hallmark of PHACES syndrome, may not be apparent at birth.
- The delayed appearance of hemangiomas suggests a potential for later development in early infancy.
- Congenital hypothyroidism was observed in conjunction with other PHACES features, indicating a possible association.
Implications:
- The diagnostic criteria for PHACES syndrome may need to consider the possibility of delayed hemangioma presentation.
- Early recognition of associated anomalies like congenital hypothyroidism is crucial for timely intervention.
- This case expands the understanding of PHACES syndrome variability and its clinical manifestations.
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