Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association

Area of Science:

• Neurology
• Cardiology
• Genetics

Background:

• PHACE syndrome is a complex neurodevelopmental disorder characterized by posterior fossa brain abnormalities, hemangiomas, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities.
• An overlap between PHACE syndrome and sternal malformation/vascular dysplasia associations has been previously described, suggesting shared underlying pathogenetic mechanisms.

Observation:

• This report details an adult patient presenting with complete manifestations of both PHACE syndrome and sternal malformation/vascular dysplasia.
• The patient exhibited a rare concurrence of these distinct yet overlapping conditions.

Findings:

• The adult patient demonstrated significant resolution of hemangiomas over time.
• Mild intellectual difficulties were noted, indicating potential long-term neurodevelopmental impact.

Implications:

• This case underscores the importance of recognizing the spectrum of PHACE syndrome manifestations in adulthood.
• Understanding the natural history and long-term outcomes, including potential resolution of certain features, is crucial for patient management.
• Further research into the genetic and developmental pathways underlying these overlapping conditions may reveal novel therapeutic targets.