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Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

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Nail abnormalities, particularly multiple onychopapillomas, are common in individuals with BAP1 tumor predisposition syndrome (BAP1 TPDS). This finding may aid in early detection of BAP1 TPDS in at-risk families.

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Area of Science:

  • Oncology
  • Dermatology
  • Genetics

Background:

  • BRCA1-associated protein (BAP1) tumor predisposition syndrome (TPDS) is a rare genetic disorder.
  • It significantly increases the risk of various cancers, including melanoma and mesothelioma.
  • Early identification is crucial for cancer surveillance and genetic counseling.

Purpose of the Study:

  • To investigate the prevalence and characteristics of nail abnormalities in individuals with pathogenic germline variants in the BAP1 gene.
  • To assess if nail findings can serve as an early indicator for BAP1 TPDS.

Main Methods:

  • A prospective cohort study enrolled 47 individuals with known pathogenic BAP1 germline variants.
  • Dermatologic evaluations included history, physical examination, photography, and nail biopsies.
  • Histopathology confirmed nail changes, focusing on onychopapilloma.

Main Results:

  • Nail abnormalities were present in 87.2% of participants.
  • Common findings included leukonychia, splinter hemorrhage, onychoschizia, and distal nail hyperkeratosis.
  • Onychopapilloma-like changes were observed in 83.0% of patients, often affecting multiple nails.

Conclusions:

  • BAP1 TPDS is frequently associated with nail abnormalities, especially onychopapillomas.
  • These nail findings may serve as a novel cutaneous sign for early detection of BAP1 TPDS.
  • Identifying these signs can help at-risk family members and patients with BAP1-associated cancers.