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<p>Neurofibromatosis type 1 (NF1), or Von Recklinghausen disease, is an autosomal dominant genetic disorder characterized by café-au-lait macules, axillary freckling, and neurofibromas. The occurrence of bilateral breast involvement in neurofibromatosis type 1 is extremely uncommon. We present the case of a 28-year-old female who has been experiencing a progressively enlarging lump in her right breast for the past 8 months, accompanied by intermittent pain. Recently, the patient had undergone excision of a lump in her left breast, which was diagnosed as a neurofibroma. The patient’s mother had similar skin lesions but no breast involvement, suggesting an inherited form of NF1. Histopathology of the excised right breast mass showed features of diffuse cutaneous neurofibroma. Although NF1 has 100% penetrance, its expressivity varies, as seen in this case. Early detection is crucial, as NF1 patients are at higher risk for malignant transformation. Surgical removal with clear margins remains the standard treatment. Regular monitoring is essential due to the risk of malignant transformation or breast cancer.</p>

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Anomalous Presentation of Von Recklinghausen Disease with Bilateral Breast Neurofibromas

  • 期刊论文

  • 发表日期：

    2026年3月30日

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  • Murali Dashna Anandan,
  • Siddhartha Sankar Samanta,
  • Niti Sureka,
  • Charanjeet Ahluwalia,
  • Md Ali Osama

摘要

Neurofibromatosis type 1 (NF1), or Von Recklinghausen disease, is an autosomal dominant genetic disorder characterized by café-au-lait macules, axillary freckling, and neurofibromas. The occurrence of bilateral breast involvement in neurofibromatosis type 1 is extremely uncommon. We present the case of a 28-year-old female who has been experiencing a progressively enlarging lump in her right breast for the past 8 months, accompanied by intermittent pain. Recently, the patient had undergone excision of a lump in her left breast, which was diagnosed as a neurofibroma. The patient’s mother had similar skin lesions but no breast involvement, suggesting an inherited form of NF1. Histopathology of the excised right breast mass showed features of diffuse cutaneous neurofibroma. Although NF1 has 100% penetrance, its expressivity varies, as seen in this case. Early detection is crucial, as NF1 patients are at higher risk for malignant transformation. Surgical removal with clear margins remains the standard treatment. Regular monitoring is essential due to the risk of malignant transformation or breast cancer.