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Image Number 333 (Klippel-Trenaunay syndrome)

 
Morphology:
Swelling

Diagnosis: Klippel-Trenaunay syndrome

Site: Leg

Sex: F

Age: 6

Type: Clinical

Description: Right leg larger in diameter as well as length and a large port wine stain on left leg

Submitted by: Irfan Bari

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Differential Diagnosis

History:

Klippel-Trenaunay Syndrome (KTS) is a congenital vascular disorder of unknown cause. It is characterized by a triad of signs: Port Wine Stain (capillary malformations) covering one or more limbs, vascular anomalies, usually venous varicosities or malformation and hypertrophy (enlargement of the limb). It involves the lower limbs in more than 90% of the patients. In rare instances, there is an absence of Port Wine Stain and not all three abnormalities need always be present for the syndrome to exist. Each case of KTS is different, with patients having varying abnormalities and severity. This young girl presented with abnormal gait and recurrent painful swellings over left leg. On examination, she was having asymmetry in size of the lower limbs. Right leg was apparently larger in diameter and length as compared to left leg and it was causing unbalanced gait. . A large port wine stain was clearly visible on left leg and small painfull cellulitic lesions were also seen on left foot. X-Ray of the limbs confirmed disparity in length of both the limbs and increased soft tissue shadow of right limb. She did not have any or venous malformation elsewhere over the body. Cellulitis settled with oral antibiotics and she was referred to orthopedic surgeon for consideration of corrective surgery.



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