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Individuals With BAP1 Have High Rate of Nail Abnormalities

Almost all patients with nail involvement had polydactylous involvement with onychopapillomas

By Elana Gotkine (HealthDay News) | May 20, 2024

MONDAY, May 20, 2024 (HealthDay News) -- Individuals with BRCA1-associated protein (BAP1) have a high rate of nail abnormalities consistent with onychopapillomas, according to a study published online May 17 in JAMA Dermatology to coincide the annual meeting of the Society for Investigative Dermatology, held from May 15 to 18 in Dallas.

Alexandra Lebensohn, from the National Institutes of Health in Bethesda, Maryland, and colleagues examined the prevalence of nail abnormalities in individuals with pathogenic germline variants in BAP1 in a prospective cohort study. Data were included for 47 participants, aged 13 to 72 years, from 35 families.

The researchers found that 41 patients (87.2 percent) had nail abnormalities, including leukonychia, splinter hemorrhage, onychoschizia, and distal nail hyperkeratosis. Overall, 39 patients (83.0 percent) had clinical findings consistent with onychopapilloma, including 35 of 40 individuals aged 30 years or older (87.5 percent). Five patients underwent nail bed biopsy, which was consistent with onychopapilloma. In nearly all patients with nail involvement (38 of 39 [97.4 percent]), polydactylous involvement with onychopapillomas was detected.

"Given the uncertain biologic potential of the nail lesions, clinical photography and periodic observation is prudent to monitor lesions, and patients should be advised to return for reevaluation if a significant change occurs in the nail or nail pain develops," the authors write.

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