|Year : 2015 | Volume
| Issue : 2 | Page : 120-123
Klippel-Trenaunay syndrome with review of literature
Onteddu Joji Reddy, Jamkhana Abdul Gafoor, Munirajulu Rajanikanth, Polysetty Obuleswar Prasad
Department of Radiology, Government General Hospital, Bhudhawarapeta, Kurnool, Andhra Pradesh, India
|Date of Web Publication||12-Jun-2015|
Dr. Onteddu Joji Reddy
Department of Radiology, Government General Hospital, Bhudhawarapeta, Kurnool, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
Klippel-Trenaunay syndrome (KTS) is a rare disorder with an incidence of 3-5/1,00,000. It is characterized by the triad of vascular malformation (capillary hemangioma or port wine stain), venous varicosity and soft tissue and/ or bony hypertrophy. The vascular malformation is usually limited to a single extremity, though multiple extremities can be involved. Alternative names given for Klippel Trenaunay Syndrome are Klippel-Trenaunay-Weber syndrome; Angio-osteohypertrophy; Nevus varicosus osteohypertrophicus syndrome; Hemangiectasia hypertrophicans and Nevus verucosus hypertrophicans.
Keywords: Klippel-Trenaunay syndrome, port wine stain, venous varicosity
|How to cite this article:|
Reddy OJ, Gafoor JA, Rajanikanth M, Prasad PO. Klippel-Trenaunay syndrome with review of literature. J NTR Univ Health Sci 2015;4:120-3
| Introduction|| |
Klippel-Trenaunay syndrome (KTS) is a rare disorder with an incidence of 3-5/1,00,000. It is characterized by the triad of vascular malformation (capillary hemangioma or port wine stain), venous varicosity and soft tissue, and/or bony hypertrophy. The vascular malformation is usually limited to a single extremity, though multiple extremities can be involved. Alternative names given for KTS are Klippel-Trenaunay- Weber syndrome More Details (KTWS); angio-osteohypertrophy; nevus varicosus osteohypertrophicus syndrome; hemangiectasia hypertrophicans; and nevus verucosus hypertrophicans. We report a case of KTWS involving upper limb and chest wall.
| Case report|| |
A 45-year-old male patient attended medicine outpatient with the chief complaints loss of vision in left eye and weakness of right upper and lower limb since 1 day. On examination there was decreased visual acuity in left eye, hemiparesis of right upper and lower limb, and we incidentally observed swelling of right upper limb present. We thought it as cerebrovascular accident causing hemiparesis on right side. On detailed history taking the revealed swelling of right upper limb was present since childhood without any symptoms related to swelling except cosmetic disturbance. The right upper limb shows numerous soft bluish nodules with superficial ulcerations and varicosities extending onto right shoulder, right side of chest wall [Figure 1]a-c. There was soft tissue hypertrophy affecting the affected limb and there is difference in diameter of 3 cm between both arms at the level of 5 cm above olecranon process.
The X-ray of affected limb and chest shows diffuse cortical thickening of humerus, radius, ulna and hand bones and there is local gigantism involving the right upper limb bones compared to left upper limb bones. Multiple phleboliths of varying sizes are noted in soft tissue planes in the affected limb, right side of chest wall, and right shoulder region [Figure 2]a-d.
|Figure 1: (a-c) Clinical photograph of patient showing right upper limb hypertrophy with varicosities and superficial ulcerations involving entire limb extending onto chest wall and shoulder|
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|Figure 2: (a-d) X-ray chest, right arm, forearm, and hand showing multiple phleboliths in soft tissue and muscle planes with cortical thickening of bones|
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Musculoskeletal ultrasound showed multiple dilated tortuous anechoic lesions involving the upper limb and periscapular region. Echogenic lesions with shadowing suggestive of phleboliths were seen inside the anechoic lesions. Color Doppler study showed minimal flow within the lesion; but, while performing a Valsalva maneuver, there was increased flow within the lesion suggestive of dilated torturous venous channels involving the superficial venous system. In carotid Doppler study there was 3.5 mm calcified plaque noted in left common carotid artery bifurcation with decreased flow velocities with significant block, that is, >70% stenosis in left side internal carotid artery suggestive of atherosclerotic occlusion causing cerebrovascular accident which is unrelated to Klippel-Trenaunay syndrome (KTS).
Right upper limb peripheral angiogram (venogram) has shown diffuse soft tissue/muscular thickening of right upper limb, extending from shoulder to finger tips. Multiple subcutaneous and intramuscular phleboliths/calcific foci are noted in right upper limb, right side of chest wall. Diffuse cortical thickening is noted involving humerus, radius, ulna, carpal metacarpal bones, and phalanges. Multiple varicose venous channels noted extending from shoulder to fingertips [Figure 3]a and b, and [Figure 4]a and b.
|Figure 3: (a and b) Computed tomography (CT) peripheral angiogram (venogram) of right upper limb and chest maximum intensity projection (MIP) images showing multiple phleboliths and venous collaterals|
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|Figure 4: (a and b) CT peripheral angiogram (venogram) of right upper limb and chest three-dimensional (3D) reconstructed images showing phleboliths and local gigantism of bones of right upper limb compared to left upper limb|
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| Discussion|| |
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital syndrome involving enlarged veins and arteries, limb hypertrophy, and capillary malformations. In 1900, French physicians, Klippel and Trenaunay, first described KTS after two patients presented with a triad of symptoms - port wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity.  Later in 1907, Parkes Weber, who was unaware of Klippel and Trenaunay's earlier work, described a patient who also presented with these three symptoms as well as an arteriovenous malformation of an affected extremity, hence the condition became known as KTWS.
Conflicting opinion exists in the literature as whether to separately designate the original triad as KTS and the triad with the addition of arteriovenous (AV) malformations as Park Weber Syndrome (PWS). KTS and PWS are examples of eponymy with synonymy both refer to osteohypertrophic nevus flammeus or angio-osteohypertrophy syndrome. 
Although the cause of KTS is still unknown, it is hypothesized that it is caused by a mesodermal abnormality during fetal development leading to vascular and soft tissue malformations in the affected limb.  McGrory and Amadio (1993) believed that an underlying mixed mesodermal and ectodermal dysplasia was responsible for development of KTWS. 
The characteristic capillary hemangioma will be visible from birth in the vast majority of cases (98% in one series).  The skin lesion has a characteristic 'port-wine stain' appearance, usually red-purple or bluish in color (in contrast to that of Parkes Weber's syndrome which appears bright red).  Venous malformations are mostly superficial, but may involve muscle, bone or visceral organs, including the spleen, liver, pleura, bladder or colon. The vast majority of venous malformations are asymptomatic as in our patient. There may be lymphatic hypoplasia or aplasia with resulting lymph edema. This can complicate the condition and contribute to the limb enlargement. Hemangioma and venous malformations in gastrointestinal tract can lead to recurrent bleeding episodes. Bone and soft tissue hypertrophy is a result of increased growth. In many cases, limb length is affected. In most cases, the girth of the limb is larger, although atrophy is seen in some patients. The lower limb is involved in about 95% of patients while upper limb involvement is seen in 5%.  Rarely only the trunk is involved. It affects males more than females.
A series of 252 patients with KTS was studied at Mayo Clinic, Rochester between January 1956 and January 1995. It showed presence of capillary malformations (port-wine stains) in 246 patients (98%), varicosities or venous malformations in 182 (72%), and limb hypertrophy in 170 (67%). All three features of KTS were present in 159 patients (63%), and 93 (37%) had two of the three features.  Other less common manifestations of KTS include thromboembolic episodes, thrombophlebitis, Kasabach-Merritt syndrome, hematuria, rectal or colonic bleeding, vaginal, vulval or penile bleeding in children with visceral and pelvic hemangiomas.  KTS is now defined as combination of capillary malformations, soft tissue or bone hypertrophy and varicose veins or venous malformations. The diagnosis of KTS can be made when any two of three features present  as is evident in our patient in whom there was no port wine stain.
Phleboliths are very common and are a calcified thrombus within a vein. Slowing of circulation and recurrent stagnation of blood within venous varicosities promote intra vascular thrombus. Calcium gets deposited over such a thrombotic mass leading to phlebolith formation. It takes several years for the process to occur.  Imaging plays an important role in the diagnosis and ongoing evaluation of KTS. At radiography, phleboliths in very young patient are pathognomonic of venous malformations and are manifestations of prior hemorrhage and thrombus. ,,
The differential diagnosis of KTS syndrome are Parkes Weber's syndrome (where there is a high-flow arteriovenous malformation rather than capillary hemangiomas). Other syndromes involving port-wine stains and high-flow shunts, for example, are capillary malformation-arteriovenous malformation syndrome, Cobb's syndrome, and CLOVES syndrome (= Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/scoliosis/seizures/skeletal abnormalities), Sturge-Weber syndrome More Details, Proteus' syndrome (rare hamartomatous disorder causing asymmetrical hypertrophy of a range of tissues, possibly afflicting Joseph Merrick, the so-called 'Elephant Man'). Congenital lymphatic artesia or obstruction. Maffucci's syndrome (rare dysembryoplasia causing cartilage and vessel tumors), and kaposiform hemangioendothelioma. ,
KTS is a progressive disorder and complications may be life-threatening. Complications include stasis dermatitis, thrombophlebitis, cellulitis, limb disparity and more serious sequelae such as thrombosis, coagulopathy, bleeding, pulmonary embolism, and congestive heart failure.  Because of venous malformations and capillary hemangiomas, patients can have clotting abnormalities. Blood clots in legs and lungs can be life-threatening.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]
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