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Klippel Trenaunay Syndrome
Altaf Naseem, U N Reddy.
Department of Pediatrics, Deccan College of Medical Sciences, Hyderabad, India.
ADDRESS FOR CORRESPONDENCE
Dr.Altaf Naseem, Assistant Professor, Department of Paediatrics, Deccan College of Medical Sciences, Santhosh Nagar, Hyderabad.
Email: docaltaf@rediffmail.com
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What is the diagnosis?
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.
References
1. Samuel M, Spitz L. Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg. 1995, 82: 757-761
2. Aelvoet GE, Jorens PG, Roelen LM. Genetic aspects of the Klippel-Trenaunay syndrome. Br J Dermatol. 1992, 126: 603-607.
3. Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I. A new case of Klippel-Trenaunay-Weber {KTW} syndrome: evidence of autosomal dominant inheritance. Am J Med Genet. 1996, 63: 426-427
4. Baskerville PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trenaunay syndrome. Ann Surg. 1985, 202: 624-627
5. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc. 1998, 73: 28-36.
E-published: June 2009, Vol 6 Issue 6 Art # 34 |