A boy presented with diffuse swelling in the right leg and foot with a purplish-blue colour patch over the anterior-lateral aspect of the right lower thigh and leg (Fig. 1). The swelling and skin patch was present since birth. On examination there was extensive port wine staining with thrombophlebitis.
Skiagram of lower limb revealed leg length discrepancy with lengthening of right femur/tibia/fibula bones with gross soft tissue thickening (Fig. 2). Coned views of the right leg revealed a well-defined calcified shadow in the soft tissue posterior aspect of the leg consistent with a large phlebolith (Fig. 3). On venous Doppler study, deep venous system revealed absence of anterior tibial and posterior tibial veins with streak-like appearance of femoral and popliteal vein (Fig. 4a). Superficial venous system revealed varicose veins along the lateral aspect of the lower limb. In addition there was diffuse soft tissue hypertrophy with many cystic dilated channels along the muscles and cutaneous tissues, and probably dilated lymphatic system (Fig. 4b). MRI done on 1.5T machine using STIR, PD, T1, T2 and MEDIC sequences MRI revealed hypertrophy of soft tissue with multiple hyperintense cystic areas in subcutaneous planes along posterior aspect of inguinal region, gluteal region, thigh and leg. In addition there were multiple phleboliths suggestive of deformed veins (Fig. 5).
Klippel-Trenaunay syndrome (KTS) is characterised by a triad of capillary malformations, soft-tissue and/or bone hypertrophy and varicose veins/venous malformations. KTS was reported by two French physicians Maurice Klippel and Paul Trenaunay way back in 1990 [1]. Weber [2] reported association of these findings with arteriovenous fistulas. KTS is a sporadic, mesodermal developmental rare disorder that usually affects a single lower limb.
Capillary malformation is a haemangioma with cutaneous blue-purplish port wine stain. The cutaneous lesions are usually confined to a part of a hypertrophied extremity [3]. Limb hypertrophy in KTS is due to bone overgrowth, muscular hypertrophy and thickened skin [4]. Anomalies of the venous system can involve both superficial and deep systems. Prominent superficial varicose veins are present in the majority of patients with KTS. Deep vein anomalies include hypoplasia, aplasia, duplication and valvular incompetence [5]. Abnormalities of the lymphatic system include a decreased number of lymph trunks and nodes are reported in 70% of patients with KTS.
Our case had all manifestation of disease with capillary malformation in form of patch port wine stains, gross hypertrophy of soft tissue with underlying bone elongation, deep venous abnormality in form of aplasia and hypoplasia of lower limb veins, abnormality of superficial venous system in form of varicosities and in addition cutaneous lymphatic vesicles.
Local complications are due to underlying vascular anomalies and include cellulitis, dermatitis and thrombophlebitis. Visceral involvement may result in rectal bleeding and haematuria [6, 7].
Imaging plays an important role in the diagnosis and ongoing evaluation of KTS. At radiography, leg-length discrepancy, bone and soft tissue hypertrophy can be assessed. Phleboliths in a very young patient are pathognomonic for venous malformations and are manifestations of prior haemorrhage or thrombus. Sonography and colour Doppler help in diagnosing abnormal superficial and deep venous system, varicosities and arteriovenous fistula. CT of the abdomen and pelvis provides a noninvasive means of assessing visceral vascular malformations. Magnetic resonance (MR) imaging because of its inherent advantages of multi-planner imaging, better soft tissue differentiation and delineation is the modality of choice. MR angiography can be used for analysing vascular malformations in KTS.
Klippel-Trenaunay syndrome
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The patient’s right lower limb shows a marked increase in size and soft tissue proliferation. X-ray images reveal that the right tibia and fibula are longer compared to the contralateral side, with elongated bony contours accompanied by soft tissue swelling. There are suspicious signs of varicose veins within the soft tissue, and clinically visible “port-wine stains” on the skin surface, appearing as purplish-red patches. Color Doppler ultrasound indicates developmental abnormalities in both the superficial and deep venous systems, including partial venous occlusion, narrowing, or abnormal courses, as well as superficial varicosities. MRI demonstrates thickening of muscles and subcutaneous tissue in the right lower limb, with multiple abnormal vascular structures suggesting venous or mixed vascular malformations. Taken together with the characteristic skin lesions, these findings are consistent with limb hypertrophy caused by vascular developmental anomalies.
Based on the diffuse swelling of the right lower limb present since birth, the presence of cutaneous port-wine stains, and the radiological confirmation of bone, soft tissue, and venous system abnormalities—together with clinical symptoms (including recurrent superficial thrombophlebitis and possible lymphatic anomalies)—the most likely diagnosis is Klippel-Trenaunay Syndrome (KTS).
1. Conservative Treatment:
- Compression Stockings or Bandages: Long-term use of compression stockings is recommended to improve venous return, reduce limb edema, and lower the risk of thrombosis.
- Medication: For recurrent superficial thrombophlebitis or pain, non-steroidal anti-inflammatory drugs (NSAIDs) or other analgesics may be used as directed by a physician. If necessary, low-molecular-weight heparin or other anticoagulants may be used under specialist guidance to prevent thrombotic complications.
2. Interventional or Surgical Treatment:
- Sclerotherapy: For localized, significantly varicose veins that repeatedly present with pain, ulceration, or bleeding, sclerotherapy may be performed.
- Selective Resection or Staged Surgery: If excessive overgrowth of the limb affects the patient’s activities and quality of life, staged debulking surgery can be considered in collaboration with plastic surgeons and vascular surgeons.
3. Rehabilitation Exercises and Exercise Prescription (FITT-VP Principle):
- Frequency: Low-intensity aerobic exercise and simple stretching 3–5 times per week.
- Intensity: Initially low-to-moderate intensity activities, such as seated or flat-floor stepping and slow walking, avoiding excessive weight-bearing or high-impact exercises.
- Time: 10–20 minutes per session, gradually increasing to 30 minutes depending on the patient’s tolerance.
- Type: Prefer gentle, low-impact exercises such as swimming, seated cycling, or slow walking. High-impact jumping or running should be avoided given the limb swelling and vascular issues.
- Progression: As the patient grows and the condition is maintained, exercise duration and variety can be gradually increased. Under specialist and rehabilitation therapist guidance, light weight-bearing exercises can be introduced to maintain muscle strength.
- Vascular Protection: Closely monitor the skin condition of the lower limb; if ulceration or infection occurs, seek medical attention promptly. Adjust exercise levels according to the patient’s condition.
This report is based on currently available information and provides a reference analysis; it does not replace in-person consultation and professional medical advice. For specific treatment and rehabilitation needs, evaluation and guidance by a specialized physician are required.
Klippel-Trenaunay syndrome
