Symptomatic Desmoid Tumour in a Patient with Klippel Trenaunay Syndrome

Abstract

Radiology, Royal Free Hospital, Pond Street, Hampstead, London NW3 2QG, UKIntroductionKlippel trenaunay syndrome (KTS) comprises anunusual triad of signs: capillary malformation, var-icosities and bone and soft tissue hypertrophy. Thishypertrophy is often asymmetrical affecting one limb.KTS has no known association with soft tissuetumours. Here, we describe a desmoid tumourcompressing the external iliac vein resulting insymptomatic pelvic varicosities in a patient with KTS.ReportA 33-year-old mother presented with a history of rightleg swelling following intercourse, preventing herfrom standing during the following hour. She alsocomplained of vulval discomfort, and symptomaticextensive varicose veins in her right leg and vulva,which increased in severity during the week prior tomenstruation. She had been diagnosed 12 years earlierwith KTS.Duplex scanning revealed an incompetent longsaphenous system with varicosities arising from this.MR venography showed large uterine and pelvicveins, and an enhancing area compressing the rightexternal iliac vein (Fig. 1).On pelvic venography a May–Thurner lesion wasseen to almost occlude the left common iliac vein andthe right external iliac vein appeared to be compro-mised due to palpable inguinal lymphadenopathy.Bilateral venous occlusion was thought to haveresulted in shunting via pelvic collaterals and be thelikely cause of her discomfort. A left sided ovarianvarix was seen arising from the left renal vein and wasembolised with coils.Her symptoms failed to improve and 1 year latershe noticed a swelling in the right groin thought to bean inguinal hernia. On surgical exploration no herniawas found, but at the edge of her Pfannenstial scar amass of infiltrative fibrous tissue within the muscles ofthe anterior abdominal wall was present. Biopsyrevealed a desmoid fibromatosis with fascicles ofspindle cells with elongated nuclei. Minimal nuclearpleomorphism was seen with occasional mitoses andno necrosis. Less than 1% of the tumour cells were inthe active cell cycle.MRI showed a 4!3!3cm