Multiple cutaneous and uterine leiomyomatosis or reed syndrome: a retrospective study of 13 cases

Abstract

Introduction: Multiple cutaneous and uterine leiomyomatosis (MCUL), or Reed syndrome, is characterized by the presence of cutaneous leiomyomas arising from the arrector pili muscles and, in women, by uterine leiomyomas. In some cases, MCUL is associated with renal cell carcinoma. This syndrome is an autosomal dominant disorder caused by a heterozygous germline mutation of the gene that encodes fumarate hydratase, a Krebs cycle enzyme that acts as a tumor suppressor.

Objective: To review the cases of MCUL diagnosed at 2 university hospitals over a 5-year period (2008-2013).

Material and methods: This was a retrospective study of 13 cases of MCUL that investigated demographic, clinical, and histologic characteristics, as well as possible associations with other diseases and treatments received.

Results: We identified 13 patients (10 women and 3 men) who had been diagnosed with MCUL. The mean age at diagnosis was 53 years. All the patients had multiple cutaneous leiomyomas; in 12 (92%) the distribution was clustered and 9 (69%) also had disseminated solitary lesions. In 1 patient (7.7%), the pattern of distribution was linear. Uterine fibroids requiring hysterectomy were present in 90% of the women. Nine patients were screened for renal lesions; no cases of renal cell carcinoma were detected but benign renal lesions were found in 4 patients.

Conclusion: The clinical and histologic characteristics of the 13 cases of MCUL reviewed were similar to those reported in the literature. The most common cutaneous manifestation was a type 2 segmental pattern. It is important for dermatologists to identify cutaneous leiomyomas and be aware of the possible association with MCUL.

Keywords: Fumarate hydratase; Fumarato hidratasa; Hereditary leiomyomatosis and renal cell cancer; Leiomiomatosis cutis et uteri; Leiomiomatosis cutánea y uterina múltiple; Leiomiomatosis hereditaria y carcinoma de células renales; Leiomiomatosis múltiple; Leiomyomatosis cutis et uteri; Multiple cutaneous and uterine leiomyomatosis; Multiple leiomyomatosis; Reed syndrome; Síndrome de Reed.