Uterine Involvement in Klippel–Trenaunay Syndrome: A Rare But Relevant Event. Review of the Literature

INTRODUCTION: Klippel–Trenaunay syndrome (KTS) is a rare vascular congenital disorder characterized by the classical triad of port-wine stains, abnormal growth of soft tissues and bones, and vascular malformations. The involvement of the genitourinary tract and of the uterus in particular is extremely infrequent but relevant for possible consequences. METHODS: We performed an extensive review of the literature using the Pubmed, Scopus and ISI web of knowledge database to identify all cases of KTS with uterine involvement. The search was done using the MeSH term “Klippel–Trenaunay syndrome” AND “uterine” OR “uterus.” We considered publications only in the English language with no limits of time. We selected a total of 11 records of KTS with uterine involvement, including those affecting pregnant women. RESULTS: Klippel–Trenaunay syndrome was described for the first time in the year 1900 in two patients with hemangiomatous lesions of the skin associated with varicose veins and asymmetric soft tissue and bone hypertrophy. Uterine involvement is a rare condition and can cause severe menorrhagia. Diagnosis is based on physical signs and symptoms. CT scans and MRI are first-choice test procedures to evaluate both the extension of the lesion and the infiltration of deeper tissues before treatment. The management of Klippel–Trenaunay syndrome should be personalized using careful diagnosis, prevention and treatment of complications. CONCLUSION: Klippel–Trenaunay syndrome is a rare vascular malformation with a wide variability of manifestations. There are no univocal and clear guidelines that suggest the most adequate monitoring of the possible complications of the disease. Treatment is generally conservative, but in case of recurrent bleeding, surgery may be needed.