Case Report: Atypical Nodular Dermatofibrosis and Renal Cysts in a Bichon Frise with a BRCA2 Mutation and No FLCN Mutation

A 10-year-old intact female Bichon Frise presented with multiple firm skin nodules on all four limbs. The nodules progressively increased in number and size over seven months. Diagnostic tests included cytology of fine-needle aspirates, histopathology of skin biopsies, radiography, and abdominal ultrasonography. Cytology revealed spindle-shaped mesenchymal cells and extracellular matrix components, and histopathology confirmed ND characterized by mature collagen deposition without evidence of malignancy. Ultrasonography detected multiple kidney cysts bilaterally, although their exact nature (benign or malignant) could not be confirmed histologically. Genetic analysis was performed, revealing no mutation in the traditionally implicated FLCN gene but multiple nonsynonymous mutations in the BRCA2 gene. This case suggests a potential association between BRCA2 gene mutations and the development of ND with renal cystic lesions, broadening the known genetic causes beyond the commonly reported FLCN mutation. Regular genetic screening and close monitoring of dermatological and renal conditions in atypical breeds are recommended. To the best of current knowledge, this is the first case report demonstrating ND and renal cysts associated with BRCA2 mutations in a Bichon Frise.