Parkes Weber syndrome: a case of right lower limb hypertrophy

Abstract

A 47-year-old female with previously diagnosed Klippel-Trenaunay syndrome (KTS) presented to a tertiary hospital emergency department with a painful wound on the medial aspect of her right leg. The wound was shallow with raised edges and surrounding erythema. It had arisen 2 weeks prior, subsequent to poorly fitting compression stockings. The right lower limb was hypertrophic with mild bilateral pitting oedema. She was admitted for management of the wound and resultant cellulitis under the Plastic and Reconstructive Surgery Unit.The diagnosis of KTS was made based on the presence of congenital right lower limb hypertrophy and cutaneous capillary malformations. The patient also developed high output heart failure and was recovering from a recent exacerbation.CT angiography showed enlarged vessels in the abdomen and right lower limb (Figs 1,2). Extensive arteriovenous malformations (AVMs) were seen in the right lower limb. Magnetic resonance imaging showed abnormal signal pattern within the subcutaneous fat with soft tissue overgrowth of the right thigh, leg and foot (Fig. 3). An aorto-iliac angiogram identified extensive diffuse AVMs from the internal iliac branches, common femoral, superficial femoral and popliteal arteries as well as all crural arteries with extensive venous shunting into the femoral and saphenous veins.The pain and erythema surrounding the wound improved with 48 h of intravenous antibiotics and leg elevation. Because of her high output heart failure, in conjunction with cardiology and interventional radiology, the patient underwent two sessions of embolisation of the extensive AVMs with a successful reduction in shunt volume and Fig. 1. 3D rendering of a CT angiogram showing the vessels of the abdomen and lower limb. There are extensive AVMs present in the right lower limb. Both the arterial and venous systems are enlarged.Fig. 2. (a) 3D volume rendered CT angiogram of the legs. (b) Axial CT through right leg. The blue arrows show the dilated cutaneous veins. The red arrows are AVMs from the tibioperoneal trunk to saphenous system.Fig. 3. Transverse MRI through right thigh showing marked thickening of the skin layer and overgrowth of underlying soft tissue. No significant abnormal signal in the femur.

Major Limb Amputation in Parkes-Weber Syndrome With Refractory Ulceration: A Case Report and Literature Review

“…In 1907, Frederick Parkes Weber described another syndrome with similar symptoms except for pulsatile thrill, which was confirmed to be arteriovenous shunting. 4 Owing to the symptoms were overlapping between 2 syndromes, the latter one was named Klippel-Trenaunay-Weber syndrome (KTWS). Nevertheless, it is crucial to differentiate KTWS from KTS since it could be disabling and even lethal without timely proper treatments.…”

“…cases reported in total. [3][4][5][9][10][11][12][13][14][15][16][17][18][19][20][21][22] Based on the age at first treatment, the patients were divided into 2 groups: juveniles (≤18 years) and adults (>18 years). The described cases included 10 males and 13 females with ages ranging from 5 to 77 years.…”

Re: Parkes Weber syndrome: a case of right lower limb hypertrophy

“…The Images for Surgeons article 'Parkes Weber syndrome: a case of right lower limb hypertrophy' by Sreedharan et al 1 describes a patient diagnosed as Klippel-Trenaunay syndrome, who the authors considered to have Parkes Weber syndrome. Parkes Weber is caused by a germline mutation in the RASA1 gene and Klippel-Trenaunay is one of a spectrum of conditions due to somatic mosaic mutations in the PIK3CA gene, collectively called PI3Kinase Related Overgrowth Spectrum (PROS) 2 .…”

Chronic foot ulcer caused by Parkes Weber syndrome

“…Both syndromes are defined by congenital vascular malformations, which can affect the capillary as well as the venous or the lymphatic system. The triad of capillary malformation, varicose and hypertrophy of one extremity is typical for Klippel-Trénaunay (5). In contrast, Parkes Weber syndrome is defined by the existence of AV-shunts (6).…”