Klippel–Trénaunay syndrome

Klippel–Trénaunay syndrome is a congenital vascular disorder involving capillary and venous malformations, often lymphatic abnormalities, and overgrowth of an affected limb.

PIK3CA-related overgrowth spectrum: A group of disorders caused by mosaic activating variants in PIK3CA, producing segmental tissue overgrowth and vascular anomalies. Klippel–Trénaunay syndrome is commonly classified within this broader spectrum.
Compression therapy: The use of external garments or devices to apply controlled pressure and manage swelling or venous symptoms. Compression garments are commonly used to manage limb swelling and venous symptoms.
Proteus syndrome: A rare mosaic overgrowth disorder usually caused by activating variants in AKT1, with progressive, disproportionate tissue overgrowth. It can resemble Klippel–Trénaunay syndrome but has a different genetic cause and characteristic pattern of overgrowth.
Port-wine stain: A persistent red-to-purple skin patch caused by a congenital capillary malformation. A port-wine stain often marks the affected region in this syndrome.
PIK3CA: A gene encoding a catalytic subunit of phosphatidylinositol 3-kinase, which participates in cell-growth signaling. Somatic activating variants in this gene underlie many cases of the syndrome.
Sclerotherapy: A procedure that injects a substance into abnormal vessels to make them close or shrink. It can treat selected abnormal veins or vascular malformations.
Parkes Weber syndrome: A congenital disorder featuring limb overgrowth, capillary malformations, and multiple high-flow arteriovenous fistulas. Its high-flow arteriovenous shunting distinguishes it from the typically low-flow malformations of Klippel–Trénaunay syndrome.
Limb-length discrepancy: A difference in length between corresponding limbs, caused by unequal bone or soft-tissue growth. Overgrowth can make the affected limb longer than its counterpart.
Somatic mosaicism: The presence of genetically distinct cell populations arising from mutations acquired after fertilization. A mutation confined to some cells helps account for the syndrome’s uneven distribution.
Laser therapy: Medical treatment that uses focused light to alter or destroy targeted tissue. Pulsed-dye laser can reduce the color of superficial capillary malformations.

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Hereditary hemorrhagic telangiectasiaCompared with: It causes vascular malformations but has a different pattern and clinical features from HHT.