Klippel Trenaunay Syndrome. It is characterized by a triad of port wine stain, varicose veins and bony and soft tissue hypertrophy involving an extremity {1}. Most cases are sporadic {2}, although few cases in the literature report an autosomal dominant pattern of inheritance {3}. The exact cause of this syndrome remains to be elucidated, underlying mixed mesodermal and ectodermal dysplasia is likely responsible {4}. It generally affects the single extremity although cases of multiple affected limbs have been reported. Diagnosis is mainly clinical {1}. Treatment is conservative and symptomatic. Hypertrophy of limb may lead to subsequent vertebral scoliosis, gait abnormalities and compromise of function {5}. Important differentials are Maffucci syndrome and Proteus syndrome.
Subscribe to:
Post Comments (Atom)
0 comments:
Post a Comment