Cutaneous Leiomyomas Unmasked; A Rare Genetic Syndrome, Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomatosis with Uterine Fibroids, Genetically Confirmed by Fumarate Hydratase Mutation Testing

Cutaneous leiomyomas are benign smooth muscle neoplasms that, in isolation, are easily dismissed as incidental skin findings, yet their presence can be the first visible clue to a life threatening hereditary cancer syndrome. When multiple painful cutaneous leiomyomas coexist with uterine leiomyomas, the possibility of hereditary leiomyomatosis and renal cell cancer, also known as Reed's syndrome, must be considered, given its association with an aggressive, early-onset form of renal cell carcinoma. We report the case of a 41-year-old Omani woman with an eleven-year history of painful, discrete, skin-colored to pinkish papules and nodules over the right upper chest and left pelvic region, exacerbated by touch and cold exposure. Gynecological evaluation revealed a bulky uterus distorted by multiple intramural and subserosal fibroids and bilateral ovarian cysts, one suggestive of a mucinous cystadenoma. The patient had a strong family history of uterine fibroids, with her mother and sister both affected and her mother having undergone hysterectomy. This constellation of findings raised strong suspicion for Reed's syndrome. A skin biopsy confirmed cutaneous leiomyoma, and subsequent genetic testing identified a heterozygous pathogenic germline variant in the fumarate hydratase gene, confirming the diagnosis. The patient was counselled regarding autosomal dominant inheritance, the 50% risk of transmission to offspring, and the value of cascade testing for at-risk relatives, and she was referred for renal surveillance. This case highlights the pivotal role dermatologists play as first responders in recognizing this rare syndrome and reinforces the need for prompt interdisciplinary evaluation among dermatology, gynecology, genetics, and nephrology to prevent a potentially fatal outcome.