Fig. 2: Clinical presentation of study participants with PIK3CA-related overgrowth spectrum, showing clinical heterogeneity within patients. | Genetics in Medicine

Fig. 2: Clinical presentation of study participants with PIK3CA-related overgrowth spectrum, showing clinical heterogeneity within patients.

From: Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

Fig. 2

(a) Patient 01-01 with a Klippel–Trenaunay syndrome (KTS) affecting predominantly the right leg. (b) Patient 01-02 with KTS and an amputation of the right hypertrophic second toe. (c) Patient 02-02 with extensive capillary malformation of trunk and extremities, with sequelae of surgery for severe scoliosis. (d1,d2) Patient 04-01 with CLOVES syndrome with extensive capillary malformation of abdomen and trunk, lymphatic deep and superficial malformation of the right inferior limb and varicose veins of left leg. (e) Patient 09-02 with KTS superficial capillary lymphatic malformation of right lower limb and right lower trunk.

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