Klippel-Trenaunay syndrome of the upper limb--a rare congenital anomaly.

a 48 year old Indian male presented with a painless swelling of the right upper limb since birth associated with an overlying discolouration involving the right chest wall. at presentation, he complained of increased sweating and a tingling sensation over the involved limb. Clinical examination revealed a port wine stain over the right upper limb and hemithorax extending from the base of the neck to the T3 dermatome limited by the midline (Figure 1), with a hypertrophy of the ipsilateral limb (Figure 2). Examination was negative for digital anomalies, arteriovenous malformations and spina bifida. Based on these features, a diagnosis of KlippelTrenaunay syndrome of the right upper limb was made. The Klippel-Trenaunay syndrome, first described in 1900,1 is characterized by a triad of port-wine stain, varicose veins, and musculoskeletal hypertrophy, with only 63% of patients presenting with all three signs and any two of three features being sufficient for a diagnosis.2 Additional findings include spina bifida, hypospadias, polydactyly, syndactyly, oligodactyly, hyperhidrosis, hypertrichosis, and paresthesias.2 It generally involves a single extremity with the leg being the most common site affected2. an exclusive upper limb involvement is rare and has been identified in 11% of patients.2 Diagnosis is essentially clinical3. Major differentials include the Parkes-Weber syndrome, differentiated by the additional presence of arteriovenous fistulae and the Proteus syndrome.3 Complications include venous thrombosis,4 cellulitis, lymphedema, bleeding and Kassabach-Merritt syndrome.5 Treatment is mainly conservative and symptomatic.2