Dissecting a Diagnostic Enigma, Multiple Bilateral Facial Nodules in a Middle Aged Woman

Abstract:

Hereditary leiomyomatosis and renal cell carcinoma is a rare autosomal-dominant tumor predisposition syndrome that is caused by a germline defect in fumarate hydratase. We report a case of a 40-year-old woman who presented with multiple bilateral facial nodules arranged in a zosteriform pattern that increased in distribution over 15 years. The patient reported slight pain with eating spicy food and similar lesions in her younger sister. Biopsy was performed, and histopathological examination confirmed the diagnosis of pilar leiomyoma. An immunohistochemical study showed loss of fumarate hydratase in tumoral cells with a positive internal control, confirming the diagnosis of hereditary leiomyomatosis and renal cell carcinoma. An abdominal ultrasound was performed, revealing masses in the right and left ovaries and uterus, whereas the kidneys were free from masses. This case highlights the importance of clinical suspicion and histological evaluation for any bilateral facial nodules arranged in a zosteriform pattern, which can be part of a syndrome.