Peters anomaly in PHACE syndrome

Area of Science:

• Neurocutaneous disorders
• Ophthalmology
• Pediatric genetics

Background:

• PHACE syndrome is a rare neurocutaneous disorder characterized by a large facial hemangioma and multiple extracutaneous anomalies.
• Affected systems include the posterior fossa, arterial system, cardiovascular system, and eyes.
• Ocular abnormalities are infrequent manifestations of PHACE syndrome.

Observation:

• This study presents the first documented case of PHACE syndrome in an infant with Peters anomaly.
• Peters anomaly is a rare developmental disorder of the anterior eye.
• The co-occurrence of these two rare conditions offers unique insights into their potential pathogenic links.

Findings:

• The infant exhibited features consistent with PHACE syndrome.
• The infant was also diagnosed with Peters anomaly, a previously unreported ocular finding in PHACE syndrome.
• This case expands the spectrum of known ocular manifestations in PHACE syndrome.

Implications:

• This case underscores the importance of comprehensive ophthalmological evaluation in infants diagnosed with PHACE syndrome.
• Understanding the co-occurrence of PHACE syndrome and Peters anomaly may elucidate shared developmental pathways.
• Further research is warranted to explore the genetic and developmental underpinnings of this rare combination.