Fig. 4

Venous malformation with TEK p.L914F hotspot mutation, and VVM patients with MAP3K3 somatic mutations. a Patient P33, a 6-month-old girl, had blue-purple patches on his right upper limb, wall of the chest, neck and back, with tortuous and expanded blue and red blood vessels seen in some areas. a, b A blue soft tumor (red circle) can be found on the right underarm and palm thenar, respectively. c Coronal reconstruction of MRI showed diffuse high signal shadow in the right upper limb and right shoulder, involving subcutaneous fat and surrounding ulna and radius. d Patient P75, a girl at the age of 2 years and 5 months, had MAP3K3 p.I441M mutation. Venous malformation on the left of buttock, increased keratinization on the surface; e Hyperkeratosis and vascular proliferation and dilation in lesional skin by HE staining (100 ×); f IHC staining (100 ×) of skin lesion indicated CD31 positivity. g Patient P62, a girl at the age of 2 years and 11 months, had MAP3K3 p.E387D mutation. Venous malformation on right lower limb; h Vascular proliferation and dilation in lesional skin by HE staining (100 ×); i High T2 signal in fat inhibition (white arrows) in the skin and subcutaneous fat of the right lower limb