- KTS is now termed capillary-lymphatic-venous malformation (CLVM), reflecting the changes seen in those vessels.
The expression and presentation in KTS have a widely varying disease spectrum, from incidental to incapacitating. KTS primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects lower limbs and unilaterally affecting the right and left side equally. In rare cases, upper extremity, head and neck area, and bilateral involvement may be seen.
Capillary manifestations (90-100% cases):Usually the first clinical finding present at birth and enlarges as the child grows.
- Flat, red, or purple capillary port-wine stains
Venous malformations (70-100% cases):The embryonic veins, which usually regress prior to birth, are persistent and are functionally incompetent leading to venous stasis and chronic thrombosis.
- Varicosities in superficial and deep venous systems
- Persistent embryonic veins
- Aplasia/hypoplasia with valvular incompetence
- GI bleeds: Venous malformations in GI tract, especially in colom
Lymphatic malformations (15-50% cases):
- Cystic lymphatic collections
- Soft tissue and bone hypertrophy in an extremity leading to the limb-length discrepancy
- Rare findings: Syndactyly, polydactyly, and clinodactyly
Other uncommon findings:
- Developmental delay
- Genito-urinary abnormalities presenting as hematuria
Colour doppler ultrasound:Initial step to assess varicosities, venous malformation, or the presence of thrombus formation.
MRI:Imaging is recommended to evaluate the underlying venous/lymphatic malformations and soft tissue/bone hypertrophy mapping the extent of disease and complications.
Differential diagnosisKTS should be differentiated by the other overgrowth syndromes presenting as hemihypertrophy and other vascular syndromes with cutaneous lesions
- Klippel–Trénaunay–Weber syndrome: High-flow arteriovenous malformation (whereas KTS is a low-flow vascular malformation)
- Parkes–Weber syndrome (PWS): High-flow AVM with similar presentations, often indistinguishable on physical examination. Differentiated on imaging
- Lymphatic filariasis
- Beckwith–Wiedemann syndrome
- Proteus syndrome
- Russell–Silver syndrome
- Maffucci syndrome
- CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)
- Neurofibromatosis type 1 (NF1)
- Triploid syndrome
A multi-disciplinary team approach with care coordination is optimal in patients with KTS. The mainstay is symptomatic care with medical management, with only a few cases needed surgical intervention.