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Case Reports
. 2024 Sep-Oct;41(5):861-865.
doi: 10.1111/pde.15598. Epub 2024 Mar 31.

Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome

Luis Fernando Sánchez-Espino  1   2 , Marta Ivars  1   2 , Carolina Prat Torres  1 , Cinzia E Lavarino  3   4 , Nagore Gené Olaciregui  3   4 , Carlota Rovira Zurriaga  2   5 , Verónica P Celis Passini  2   4 , Miguel Bejarano Serrano  2   6 , Eulàlia Baselga  1   2
Affiliations
Case Reports

Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome

Luis Fernando Sánchez-Espino et al. Pediatr Dermatol. 2024 Sep-Oct.

Abstract

We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.

Keywords: CM‐AVM syndrome; RASA1 gene; genetics; somatic mosaicism; vascular malformation; vascular tumor.

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References

REFERENCES

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