Nail Changes Linked to Rare Cancer Syndrome, Study Warns

 Nail Changes Linked to Rare Cancer Syndrome, Study Warns

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A groundbreaking study by the National Institutes of Health (NIH) has identified a rare nail condition that could be indicative of a serious genetic disorder known as BAP1 tumor predisposition syndrome. This syndrome significantly heightens the risk of developing various cancers, including those affecting the skin, eyes, kidneys, and the lining of the chest and abdomen.

The study, involving 47 individuals from 35 different families, made this discovery when a particularly observant participant reported subtle changes in his nails during a genetic assessment. This observation led researchers to perform a thorough evaluation of other participants, revealing a pattern of benign nail abnormalities known as onychopapillomas.

Alexandra Lebensohn, co-lead author and genetic counselor, emphasized the importance of this patient’s feedback, which prompted further investigation. “His comment prompted us to systematically evaluate other participants for nail changes and uncover this new finding,” Lebensohn said.

Onychopapillomas are characterized by a colored band along the nail, typically appearing white or red. This condition can also cause thickening underneath the discolored area and at the nail’s end. The study found that among participants over 30 years old with BAP1 tumor predisposition syndrome, a staggering 88 percent exhibited onychopapillomas affecting multiple nails.

Based on these findings, researchers are now advocating for nail screenings, especially in patients with a family history of melanoma, a serious and potentially life-threatening skin cancer. The World Health Organization has highlighted melanoma as a condition that demands early detection due to its severity.

While changes in moles or skin lesions are well-known indicators of melanoma, the study’s authors stress the importance of recognizing more subtle signs, such as nail abnormalities. Early recognition of these signs could be crucial for timely diagnosis and treatment.

Edward Cowen, head of Dermatology Consultation Services at NIH, noted the rarity of these findings in the general population and suggested that multiple nail changes indicative of onychopapillomas should prompt consideration of BAP1 tumor predisposition syndrome. “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,” Cowen stated.

The mutations in the BAP1 gene, which typically functions as a tumor suppressor, are responsible for the syndrome. Co-senior author Raffit Hassan highlighted the collaborative nature of the discovery, saying, “This discovery is an excellent example of how multidisciplinary teams and natural history studies can reveal insights about rare diseases.” This research not only advances understanding but also underscores the critical role of patient observations in diagnosing complex conditions.

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