Multiple Onychomatricomas as a Rare Clinical Presentation with BAP1 Mutation: A Case Report

Area of Science:

• Dermatology
• Oncology
• Genetics

Background:

• Onychomatricoma (OM) is a rare benign fibroepithelial tumor originating from the nail matrix and bed.
• It typically presents as a solitary lesion causing nail plate thickening, longitudinal bands, leukonychia, and splinter hemorrhages.

Purpose of the Study:

• To report a case of a 50-year-old woman with bilateral thumbnail onychomatricoma.
• To discuss the diagnostic considerations and genetic implications of multiple nail lesions.

Main Methods:

• Dermatologic examination of thumbnail lesions.
• Surgical treatment of both lesions.
• Histopathological evaluation for diagnosis.
• Genetic analysis for BAP1 gene mutation.

Main Results:

• The patient presented with bilateral thumbnail changes including leukonychia and lunula irregularities.
• Histopathology confirmed Onychomatricoma (OM).
• A likely pathogenic mutation in the BAP1 gene was identified.

Conclusions:

• Onychomatricoma can present as multiple lesions, and this should not exclude the diagnosis.
• In cases of multiple Onychomatricoma, evaluation for BAP1 mutations is recommended.
• The BAP1 gene mutation may be associated with multiple nail tumors.