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[Children with infantile haemangiomas should be worked-up for PHACE syndrome]

Trine Bertelsen1, Maria Luise Salskov-Iversen, Birgitte Stausbøl-Grøn

  • 1Dermatologisk Afdeling, Aarhus Universitetshospital, P.P. Ørumsgade 11, 8000 Aarhus C. bertelsen.trine@gmail.com.

Ugeskrift for Laeger
|September 10, 2013
PubMed

Insights

Infantile haemangiomas, common infant tumors, can indicate PHACE syndrome when large and facial. Early referral is crucial for infants with large facial haemangiomas to diagnose associated conditions like coarctation of the aorta.

Area of Science:

  • Pediatric Oncology
  • Dermatology
  • Cardiology

Background:

  • Infantile haemangiomas are the most frequent tumors in infants.
  • Large facial infantile haemangiomas are linked to PHACE syndrome in 20-31% of cases.
  • PHACE syndrome diagnosis requires a large facial haemangioma plus at least one extracutaneous manifestation.

Observation:

  • This case study focuses on an infant presenting with a large facial haemangioma.
  • The infant was diagnosed with coarctation of the aorta.

Findings:

  • The infant's presentation of a large facial haemangioma and coarctation of the aorta confirmed a diagnosis of PHACE syndrome.
  • This highlights the importance of recognizing extracutaneous manifestations in infants with facial haemangiomas.

Implications:

  • Infants with large facial haemangiomas require prompt referral to pediatric specialists for comprehensive evaluation.
  • Early diagnosis and management of PHACE syndrome can prevent severe complications.
  • This case underscores the critical need for multidisciplinary assessment in infants with complex vascular anomalies.

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