Imaging findings in suspected Reed's syndrome: a multidisciplinary case report of multiple cutaneous and uterine leiomyomatosis with literature review

Abstract

Background. Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is an uncommon disorder characterized by cutaneous and uterine leiomyomas. It may occur sporadically or as part of hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a genetically defined syndrome caused by germline fumarate hydratase (FH) mutations that confers a risk of aggressive renal cancer. Clinical and imaging recognition of the MCUL phenotype can prompt genetic counseling and renal surveillance. Case presentation. A 25-year-old nulliparous woman desiring fertility preservation presented with abdominal fullness and long-standing painful cutaneous papules on the right leg. Ultrasound and contrast-enhanced MRI showed an enlarged uterus with multiple intramural and subserosal lesions radiologically consistent with leiomyomas, the largest measuring 9.6 × 7.1 × 7.8 cm, without restricted diffusion. Abdominal MRI showed no current renal mass or lymphadenopathy. Punch biopsy of a skin lesion confirmed piloleiomyoma; the uterine lesions were not histologically confirmed. The findings supported a clinical diagnosis of probable Reed's syndrome. Germline FH testing was advised but had not been performed; therefore, HLRCC remains unconfirmed. Management included gonadotropin-releasing hormone (GnRH) analog therapy, correction of anemia, evaluation of elevated TSH, and analgesia for cutaneous pain, with myomectomy proposed and annual renal MRI surveillance planned. Conclusions. Painful cutaneous leiomyomas associated with multiple early-onset uterine fibroids should prompt consideration of Reed's syndrome. Imaging can characterize uterine disease and document the absence of a current renal mass, but it cannot confirm the syndrome or exclude future renal cancer. Genetic testing, counseling, and structured surveillance remain essential.