Researchers have discovered that the presence of a benign nail condition known as onychopapilloma may lead to the diagnosis of BAP1 tumor predisposition syndrome.
The findings from this study were presented by Lebensohn et al at the Society for Investigative Dermatology 2024 Annual Meeting and simultaneously published in JAMA Dermatology.
Although the BAP1 gene typically acts as a tumor suppressor, patients with BAP1 tumor predisposition syndrome—a rare, inherited disorder caused by BAP1 gene mutations—may be at increased risk of developing cancer of the skin, eyes, kidneys, and mesothelium.
Onychopapilloma causes a white or red colored band along the length of the nail alongside thickening of the nail underlying the color change and thickening at the end of the nail. This condition often occurs in just one nail.
In the recent study (ClinicalTrials.gov identifier NCT03830229), the researchers analyzed patients aged 2 years and older who underwent dermatology screening for BAP1 variants at enrollment and annually thereafter. They found that 47 patients from 35 families had BAP1 tumor predisposition syndrome.
“When asked about nail health during a baseline genetic assessment, a very astute patient reported that he had noticed subtle changes in his nails,” explained co–lead study author Alexandra Lebensohn, MS, CGC, of the National Cancer Institute (NCI) at the National Institutes of Health (NIH). “His comment prompted us to systematically evaluate other participants for nail changes and uncover this new finding,” she added.
After performing biopsies of the nail and underlying nail bed, the researchers confirmed their suspicion of onychopapilloma. Among the patients with known BAP1 tumor predisposition syndrome aged 30 years and older, 88% of them had onychopapilloma tumors affecting multiple nails.
The researchers suggested that nail screening may be particularly valuable in patients with a personal or family history of melanoma or other potential BAP1-associated malignancies.
“This finding is rarely seen in the general population, and we believe the presence of nail changes that suggest onychopapillomas on multiple nails should prompt consideration of a diagnosis of BAP1 tumor predisposition syndrome,” emphasized co–senior study author Edward Cowen, MD, MHSc, Head of Dermatology Consultation Services at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the NIH.
“This discovery is an excellent example of how multidisciplinary teams and natural history studies can reveal insights about rare diseases,” concluded co–senior study author Raffit Hassan, MD, of the NCI.
