'PHACE' on the 'face'

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.