This prospective cross-sectional study (Oct 2020–Mar 2021, n=259) assessed the prevalence of cherry angiomas (CAs) in adults with confirmed NF1 vs. controls without NF1, then characterized the histopathologic, genomic, and cell-specific mechanisms underlying NF1-associated CAs.
CAs were nearly 3× more common in NF1 patients vs. controls (48% vs. 18%; OR 4.26, 95% CI 2.44–7.56), occurred at a younger age, and showed biallelic NF1 inactivation (somatic second hits in 67% of NF1-associated CAs vs. 0% of controls), with co-occurring GNAQ activating variants and elevated pERK signaling in endothelial cells and telocytes.
Single-center French referral cohort limits generalizability; cross-sectional design cannot establish temporality; NF1-associated CAs were analyzed post-excision, so subclinical or early lesions may be underrepresented.
Clinicians managing NF1 patients should recognize CAs as a frequent, bona fide vascular manifestation of the syndrome—not an incidental finding—and consider documenting their presence as part of routine NF1 skin surveillance. The RAS-MAPK pathway activation identified may open avenues for targeted intervention in NF1-related vasculopathy.
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