Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.
Alexandra LebensohnAzam GhafoorLuke BloomquistMichael C RoyerLeslie Castelo-SoccioKelli KarackiOlanda HathawayTenin MagloCathy WagnerMaria G AgraAndrew M BlakelyDavid S SchrumpRaffit HassanEdward W CowenPublished in: JAMA dermatology (2024)
This study found that BAP1 TPDS was associated with a high rate of nail abnormalities consistent with onychopapillomas in adult carriers of the disease. Findings suggest that this novel cutaneous sign may facilitate detection of the syndrome in family members who are at risk and patients with cancers associated with BAP1 given that multiple onychopapillomas are uncommon in the general population and may be a distinct clue to the presence of a pathogenic germline variant in the BAP1 gene.