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Following Cell-fate in E. coli After Infection by Phage Lambda
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'PHACE' on the 'face'

Ie Lien Romero1, Chia Saw2,3, Noel David Friesen2,3

  • 1School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia ielien.romero@outlook.com.

BMJ Case Reports
|January 19, 2025
PubMed

Insights

Large facial infantile haemangiomas in infants may signal PHACE syndrome, a rare neurocutaneous disorder. Early diagnosis and multidisciplinary management are crucial for affected children.

Area of Science:

  • Pediatrics
  • Dermatology
  • Genetics

Background:

  • Infantile haemangiomas are common benign vascular tumors in infants.
  • Large facial haemangiomas (≥5 cm) can be associated with serious underlying conditions.
  • PHACE syndrome is a neurocutaneous disorder characterized by specific malformations and defects.

Purpose of the Study:

  • To report an unusual case of possible PHACE syndrome in a young male toddler.
  • To discuss the clinical assessment and diagnostic approach for PHACE syndrome.
  • To highlight the importance of a multidisciplinary approach for managing large facial haemangiomas.

Main Methods:

  • Case report of a young male toddler with a large facial haemangioma.
  • Review of clinical presentation and diagnostic workup for PHACE syndrome.
  • Discussion of standardized guidelines for managing large facial haemangiomas.

Main Results:

  • The case presented an unusual manifestation of potential PHACE syndrome.
  • Diagnosis and management of PHACE syndrome require careful clinical evaluation.
  • A multidisciplinary team is essential for comprehensive patient care.

Conclusions:

  • Large facial haemangiomas warrant thorough investigation for PHACE syndrome.
  • Awareness of PHACE syndrome's clinical spectrum is critical for timely diagnosis.
  • Standardized guidelines and a collaborative approach improve outcomes for PHACE syndrome patients.

Keywords:
Congenital disordersDevelopmental paediatrocsHemangiomaStrokeThyroid disease

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