Reed syndrome: an atypical presentation of a rare disease

Area of Science:

• Genetics
• Dermatology
• Oncology

Background:

• Reed syndrome, or Multiple Uterine and Cutaneous Leiomyomas (MCUL), is an autosomal dominant disorder.
• It stems from a defect in the fumarate hydratase gene, predisposing individuals to leiomyomas.

Observation:

• A 37-year-old woman presented with subcutaneous nodules diagnosed as angioleiomyosarcoma.
• Her medical history included uterine leiomyomas, leading to a Reed syndrome diagnosis.

Findings:

• The case highlights the presentation of Reed syndrome with both cutaneous and uterine leiomyomas.
• Surgical excision is the primary treatment for superficial, low-stage lesions.

Implications:

• Genetic counseling is recommended for patients with multiple cutaneous leiomyomas.
• Referral to nephrology is advised due to the association with renal cell carcinoma.