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Onychopapilloma a potential marker for BAP1 tumour predisposition syndrome

A fingernail with onychopapilloma. Photo by Dermatology Consultation Service, NIAMS

New findings suggest the presence of a benign nail abnormality may lead to the diagnosis of a rare inherited disorder that increases the risk of developing cancerous tumours of the skin, eyes, kidneys and the tissue that lines the chest and abdomen.

The findings were published online ahead of print in JAMA Dermatology (May 17, 2024).

In a press release, the investigators explain they made the discovery while studying participants enrolled in a screening for BAP1 variants at the U.S. National Institutes of Health (NIH) Clinical Center. They note the BAP1 gene normally acts as a tumour suppressor, among other functions.

As part of the study, a dermatology screening was performed at enrollment and annually for participants aged two years and older. The cohort in the current study included 47 individuals with BAP1 tumour predisposition syndrome from 35 families.

“When asked about nail health during a baseline genetic assessment, a very astute patient reported that he had noticed subtle changes in his nails,” said co-lead author and genetic counsellor Alexandra Lebensohn, M.S., of NIH’s National Cancer Institute (NCI), in the release. “His comment prompted us to systematically evaluate other participants for nail changes and uncover this new finding.”

Biopsies of the nail and underlying nail bed in several participants confirmed the investigators’ suspicion of a benign tumour abnormality known as an onychopapilloma. The condition causes a coloured band (usually white or red) along the length of the nail, along with thickening of the nail underlying the colour change and thickening at the end of the nail. It typically only affects one nail.

However, among study participants with known BAP1 tumour predisposition syndrome aged 30 years and older, 88% had onychopapilloma tumours affecting multiple nails. The researchers suggest that nail screening may be particularly valuable in patients with a personal or family history of melanoma or other potential BAP1-associated malignancy.

“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 tumour predisposition syndrome,” said Dr. Edward Cowen, head of Dermatology Consultation Services at 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 about rare diseases,” said Dr. Raffit Hassan, co-senior author of the study and the Principal Investigator of the clinical protocol in which these patients were enrolled.

The study was supported by the intramural programs of NIAMS (ZIAAR041229) and NCI (ZIABC010816) and included collaborations with physicians at Walter Reed National Medical Center and the Joint Pathology Center.


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