Dermato-Radiological Evaluation of Congenital Limb Overgrowth Vascular Syndromes

Abstract

International Society for the Study of Vascular Anomalies classification defines Congenital Limb Overgrowth Vascular Syndromes (CLOS) as a subset of vascular syndromes with other abnormalities that present with unilateral limb overgrowth. It includes Klippel-Trenaunay Syndrome, Parkes-Weber Syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/Skeletal Anomalies/Scoliosis) Syndrome, Proteus Syndrome, PTEN Hamartomatous Syndrome, and Fibroadipose Vascular Anomaly. Due to their rare and complex nature, a multidisciplinary approach to diagnosis and treatment is required. A thorough clinical and radiological workup can go miles in reflecting on the patient's outcome. Here we report five cases of CLOS with their detailed dermato-radiological profiles.

Keywords: CLOS (congenital limb overgrowth vascular syndromes); CLOVES syndrome; klippel–trenaunay syndrome; parkes–weber syndrome; proteus syndrome.

Figure 1

(a) Multiple bluish nodules on the anterior chest overlying an area of diffuse swelling extending over the right upper limb, right chest wall, and bilateral axilla. (b) Well to ill-defined soft swelling over the upper back. (c) Coronal T2 weighted image showing multiseptated, multiloculated T2 hyperintense areas in the subcutaneous plane involving the right upper limb and bilateral lateral chest wall. (d) Sagittal T1WI showing lipomatous overgrowth over the posterior aspect of the neck and chest wall, posterior to the ligamentum nuchae and trapezius muscle, extending from C2 to D7 vertebral level. (e) Post-contrast T1 weighted images (T1W1) showing enhancement of septations and patchy heterogeneous internal enhancement within the lesions. (f) Time-resolved MR angiography (TWIST) image confirming no evidence of early arteriovenous shunting, suggesting slow flow vascular malformation. Diagnosis: CLOVES Syndrome

Figure 2

(a and b) Left lower limb swelling and elongation since birth with hyperpigmented areas noted in the popliteal fossa. (c) Coronal T2-weighted image of bilateral lower legs showing multiple dilated vascular channels and hyperintense signal in the muscular plane in the left leg. (d) Time-resolved MR angiography (TWIST) image showing dilated vascular channels and widespread venous malformation within the left leg with no evidence of arteriovenous malformation. Diagnosis: Klippel–Trenaunay Syndrome

Figure 3

(a) Irregular, diffuse swelling and elongation of the right upper limb with overlying well defined reddish-pink patches on the palmar aspect of the right hand and right extensor forearm. (b) Plain radiograph of right upper limb showing soft tissue thickening involving upper arm and hand, with few radiodense foci in soft tissue-phleboliths. (c and d) Coronal T2WI and coronal post-contrast T1WI showing multiple dilated tortuous vascular channels diffusely involving subcutaneous and muscular planes in the right upper arm and right axilla, and soft tissue showing venous phase enhancement, respectively. (e) Time-resolved MR angiography image at 25s (early arterial phase) showing a nidus in the lateral aspect of the right arm with arterial supply from the brachial artery and early arteriovenous shunting suggesting an arteriovenous malformation. (f) Time-resolved MR angiography in the venous phase showing an extensive slow flow vascular malformations in the right upper limb. Diagnosis: Parkes–Weber Syndrome

Figure 4

(a) Disproportionate enlargement of the left lower limb along with swelling around the left knee and upper lateral aspect of the left leg (b) Multiple soft to rubbery, bluish, compressible nodules overlying the swelling in the lateral aspect of the knee. (c and d) Axial and Coronal T2WI showing tubular, elongated channels in the subcutaneous and muscular planes in the left gluteal region and left lower limb. (e) MR angiography image in venous phase showing heterogeneous enhancement of vascular malformation with no evidence of early arteriovenous shunting suggesting venolymphatic malformation. Diagnosis: Klippel–Trenaunay Syndrome

Figure 5

(a and b) Diffuse swelling and bluish discoloration of the left lower limb and left side of the trunk with overlying well to ill-defined reddish patches