PHACE syndrome: a case report and a comprehensive review

Area of Science:

• Neurocutaneous disorders
• Pediatric neurology
• Medical imaging

Background:

• PHACE syndrome is a rare neurocutaneous disorder characterized by facial hemangiomas and associated developmental anomalies.
• The acronym PHACE represents key features: posterior fossa malformations, hemangiomas, arterial abnormalities, cardiac defects, and eye anomalies.
• Facial hemangiomas, particularly in the cervico-facial region, are the most common manifestation in early childhood.

Observation:

• A 15-year-old female presented with a facial hemangioma, leading to the diagnosis of PHACE syndrome after multisystemic imaging revealed central nervous system (CNS) anomalies.
• The patient's CNS anomalies included posterior cerebral fossa enlargement, cystic dilation of the fourth ventricle, arachnoid cyst, and cerebellar hypoplasia.
• Treatment with propranolol was initiated, resulting in a significant decrease in hemangioma size.

Findings:

• Large segmental facial hemangiomas, especially in the frontotemporal and frontonasal areas, are strongly associated with CNS and cardiovascular anomalies.
• PHACE syndrome requires a comprehensive multisystem evaluation to identify all affected areas.
• Propranolol is an effective first-line treatment for facial hemangiomas in PHACE syndrome, demonstrating good tolerance and improvement.

Implications:

• PHACE syndrome should be considered in the differential diagnosis of infants and children presenting with facial hemangiomas.
• Advanced imaging techniques such as MRI and magnetic resonance arteriography are essential for diagnosing PHACE syndrome and its associated anomalies.
• Timely diagnosis and treatment are critical for preventing potential complications associated with PHACE syndrome.