Cherry Angiomas in Individuals With Neurofibromatosis Type 1

Are cherry angiomas (CAs) more frequent in individuals with neurofibromatosis type 1 (NF1), and what are their underlying cellular and genetic mechanisms? In this cross-sectional study, CAs were significantly more prevalent and occurred earlier in individuals with NF1 than controls. Most NF1-associated CAs harbored somatic NF1 loss of function second hits that were frequently co-occurring with activating GNAQ variants; biallelic NF1 inactivation arose primarily in endothelial cells and telocytes and was associated with rat sarcoma–mitogen-activated protein kinase hyperactivation. The study results suggest that CAs represent a previously unrecognized vascular manifestation of NF1, extending NF1-associated tumorigenesis beyond neural crest–derived tissues and establishing CAs as a model for NF1-related vasculopathy.

Corresponding Author: Laura Fertitta, MD, Service de Dermatologie, Hopital Henri Mondor, 1 Rue Gustave Eiffel, 94000 Créteil, France (laura.fertitta@aphp.fr).

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