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Capillary malformation-arteriovenous malformation syndrome: a multicentre study.

M Valdivielso-Ramos1, A Martin-Santiago2, J M Azaña3

  • 1Department of Dermatology, Hospital Infanta Leonor, Madrid, Spain.

Clinical and Experimental Dermatology
|August 26, 2020
PubMed
Summary

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome involves skin lesions and fast-flow vascular malformations (FFVMs). A herald patch may indicate brain FFVMs, but no other predictive factors were found.

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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.