Dissecting a Diagnostic Enigma, Multiple Bilateral Facial Nodules in a Middle Aged Woman.
Nasser Almadan, Reem Althubaiti, Ahmed Almotairi et al.
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Case in brief
A 40-year-old woman presented with multiple bilateral facial nodules in a zosteriform pattern, which had increased over 15 years. She experienced slight pain when consuming spicy food and had a family history of similar lesions in her sister. Biopsy confirmed pilar leiomyoma, and immunohistochemistry indicated loss of fumarate hydratase, leading to the diagnosis of hereditary leiomyomatosis and renal cell carcinoma. Abdominal ultrasound revealed ovarian and uterine masses.
Diagnostic / clinical pearl
Clinicians should maintain a high index of suspicion for hereditary leiomyomatosis and renal cell carcinoma in patients with bilateral facial nodules arranged in a zosteriform pattern, as this may indicate an underlying syndrome.