PMC5803940_01
Diffuse swelling of right lower limb extending from groin up to the mid leg. Multiple varicosities are visible on the surface
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F1
On physical examination, there was diffuse swelling of the right lower limb extending from the groin up to the mid leg [Figure 1].
(a) Multiple discrete, reddish-brown, telangiectatic papules involving the nasolabial furrows and cheeks. Dental pits and gingival fibromas are appreciable. (b) Skin-colored papules coalescing to form plaque and single hypopigmented patch visible on the left lateral trunk
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F2
There were multiple firm, discrete, reddish-brown, telangiectatic papules on the face involving the nasolabial furrows and cheeks [Figure 2a]. Multiple ash leaf-shaped hypopigmented patches of variable sizes were seen on trunk [Figure 2b]. Soft, skin-colored papules were coalescing to form plaque on the left lateral trunk [Figure 2b]. On oral mucosal examination, dental pits and gingival fibromas were also seen [Figure 2a].
MRI of the right lower limb showing altered signal intensity involving the musculature of all compartments of the right thigh and leg suggestive of fatty infiltration
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F3
T2-weighted hyperintense) involving the musculature of all compartments of the right thigh and leg suggestive of fatty infiltration and multiple prominent, tortuous vessels suggestive of venous channels [Figure 3]. There was associated cortical thickening of right femur and tibia with anterior bowing deformity of femur.