Scientists at the National Institutes of Health (NIH) in the United States have discovered that the presence of a benign abnormality in the nails can lead to the diagnosis of a rare inherited disorder that increases the risk of developing cancerous tumors of the skin, eyes, kidneys and the tissue that lines the chest and abdomen (for example, the mesothelium).
This condition is known as BAP1 tumor predisposition syndrome and is due to mutations in the BAP1 gene, which normally acts as a tumor suppressor, among other functions. The findings have been published in JAMA Dermatology and were presented at the Society for Investigative Dermatology Annual Meeting (SID 2024) held in Dallas May 15-18.
Scientists made this discovery while studying participants who were enrolled in a screening test for BAP 1 variants at the NIH Clinical Center. As part of the study, a dermatological examination was performed at the time of enrollment and annually for participants aged 2 years or older. The current study cohort included 47 individuals with BAP1 tumor predisposition syndrome from 35 families.
“When asked about nail health during an initial genetic evaluation, one very astute patient reported noticing subtle changes in her nails,” said co-senior author and genetic counselor Alexandra Lebensohn of the National Cancer Institute (NCI). from the NIH. “Her comment prompted us to systematically evaluate other participants for nail changes and discover this new finding.”
Changes in the nails that can warn of tumors
Biopsies of the nail and underlying nail bed in several participants confirmed the researchers’ suspicion of a benign tumor abnormality known as an onychopapilloma, which is characterized by a band of color (usually white or red) along the nail, along with a thickening of the nail underlying the color change and a thickening at the end of the nail. It usually only affects one nail.
“We believe that the presence of nail changes suggestive of onychopapillomas on multiple nails should lead to consideration of a diagnosis of BAP1 tumor predisposition syndrome”
However, among study participants with known BAP1 tumor predisposition syndrome aged 30 years or older, 88% had onychopapilloma tumors involving multiple nails. The researchers suggest that nail examination may be particularly valuable in a patient with a personal or family history of melanoma or other possible BAP1-associated malignancy.
“This finding is rarely seen in the general population and we believe that the presence of nail changes suggestive of onychopapillomas on multiple nails should prompt consideration of a diagnosis of BAP1 tumor predisposition syndrome,” said Dr. Edward Cowen, Ph.D. chief of Dermatology Consultation Services at the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
“This discovery is an excellent example of how multidisciplinary teams and natural history studies can reveal insights into rare diseases,” concludes Dr. Raffit Hassan, co-lead author of the study and principal investigator of the clinical protocol in which these patients were enrolled. .
