Multiple cutaneous and uterine leiomyomatosis (Reed's syndrome).
A 51-year-old woman with a history of uterine fibroids status post myomectomy and hysterectomy presented for evaluation and treatment of intermittently painful papules of the left shoulder. Histopathologic examination showed a proliferation of smooth muscle fascicles consistent with the diagnosis of cutaneous leiomyomas. Genetic sequencing demonstrated a novel mutation in the fumarate hydratase gene that confirmed the diagnosis of Reed's syndrome. A subset of individuals with Reed's syndrome is predisposed to develop a papillary renal-cell carcinoma, so appropriate radiologic examinations should be performed. Treatment of the pain caused by cutaneous leiomyomas includes the use of nifedipine, nitroglycerine, phenoxybenzamine, surgical excision, and carbon dioxide laser ablation.
Kim
Gene
G
Department of Dermatology, New York University School of Medicine, USA.
D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D017354:Point Mutation; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*
D005649:Fumarate Hydratase