Capillary malformation-arteriovenous malformation syndrome: a multicentre study.

Area of Science:

• Vascular Malformations
• Genetics
• Dermatology

Background:

• Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare genetic disorder.
• Characterized by distinctive skin lesions and potential fast-flow vascular malformations (FFVMs).
• Limited case series exist, with no prior studies in Spain.

Purpose of the Study:

• To determine the prevalence of dermatological features, FFVMs, and associated conditions in CM-AVM patients.
• To analyze clinical, radiological, genetic, and disease associations in a large cohort.
• To investigate potential predictors for FFVM development.

Main Methods:

• Observational study conducted across 15 Spanish hospitals over 3 years.
• Involved 64 patients diagnosed with CM-AVM syndrome.
• Collected data on clinical presentation, imaging, genetics, and comorbidities.

Main Results:

• FFVMs were present in 34% of patients (skin, brain, spine).
• A 'herald patch' was observed in 75% of patients.
• RASA1 mutations identified in 73% of tested patients; EPHB4 mutations in all tested.

Conclusions:

• Findings align with existing literature on CM-AVM clinical, genetic, and FFVM prevalence.
• No significant associations found to predict FFVM onset, except a potential link between midline facial herald patch and brain FFVM.
• No genotype-phenotype correlation was established.