Reed’s syndrome: a combination of a renal cyst with leiomyoma of the skin and uterus (clinical observation)

Abstract

Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reeds syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of multiple cutaneous and uterine leiomyomatosis with renal cell carcinoma. The diagnosis of multiple leiomyomas is based on the identification of morphological characteristic rashes (small, oval, red-brown or flesh-colored nodules located around the hair follicles, often painful) and is confirmed by the method of pathomorphological examination. Treatment of leiomyomas depends on their number, size, area of skin lesion and severity of subjective symptoms. With single rashes, surgical excision of the largest and most painful elements is possible, with severe pain syndrome ― calcium channel blockers, alpha-blockers and gabapentin. Cryotherapy, diathermocoagulation, and laser ablation with a carbon dioxide laser are used to destroy the nodes. The presence of cutaneous leiomyomas in patients dictates the need for careful collection of anamnesis, including family and obstetric-gynecological, conducting a full-fledged clinical, laboratory and instrumental examination and consulting by related specialists. Annual screening for early detection and therapy of renal cell carcinoma is also mandatory. Due to the existing probability of the hereditary nature of Reeds syndrome, a thorough examination of the patients relatives is necessary. We report a case of a 58-year-old woman with Reeds syndrome: multiple cutaneous leiomyomas, uterine leiomyoma and renal cysts.