Fact-sheet: Klippel-Trenaunay syndrome
  • Congenital vascular bone syndrome
  • Angio-osteohypertrophic syndrome


Updated on 03/20/2023 at 9:49 AM

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Definition

Angio-osteohypertrophic syndrome is a rare, sporadic congenital malformation, with no ethnic or sex predominance, characterized by a vascular malformation of a limb resulting in abnormal growth of the affected limb.

Clinical features

Triad:

  • Port-wine stain - cutaneous capillary malformation (constant and early)
  • Venous abnormalities (appearing secondarily) and sometimes lymphatic abnormalities
  • Soft tissue hypertrophy (increased circumference) and/or bone hypertrophy (limb length discrepancy) of the affected limb

Do not exclude the diagnosis: the presence of very small arteriovenous fistulas (but if AVM = Parkes-Weber syndrome), decreased limb growth (beware of Servelle-Martorell syndrome), and varicosities.

Location:

  • Lower limb (70% of cases)
  • Upper limb
  • Hemibody
  • Bilateral

Complications

  • Infectious: cellulitis
  • Thromboembolic: deep vein thrombosis, pulmonary embolism
  • Bleeding

Radiography

Hypertrophy of the affected area (often a lower limb)

Limb length discrepancy (affected > unaffected)

Ultrasound

Doppler ultrasound: first-line imaging examination

Increased caliber of the veins and arteries on the affected side

Increased flow, without arteriovenous malformation

CT

Hypertrophy of all structures in the affected area (bone, vascular, soft tissue...)

MRI

Hypertrophy of all structures in the affected area (bone, vascular, soft tissue...)

Management

Multidisciplinary management: venous compression, orthopedic treatment

Diagnostic strategy: in cases of port-wine stain, measure lower limb circumference and look for vascular anomalies --> Doppler ultrasound as first-line study, +/- contrast-enhanced CT or MRI

Follow-up: no systematic imaging follow-up, except in case of complication (DVT, PE)

Differential diagnosis

Differential diagnosis

Simple port-wine stain (incidence 0.5% of newborns)

Parkes-Weber syndrome = Klippel-Trenaunay syndrome + arteriovenous malformations. Marked gigantism, disabling trophic disorders that may require amputation, risk of heart failure

Servelle-Martorell syndrome = port-wine stain + venous malformation + limb hypotrophy