Klippel-Trenaunay syndrome is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity. The syndrome was first described in 1900 by two French physicians named Klippel and Trenaunay. They termed the syndrome “naevus vasculosus osteohypertrophicus.” In 1907, Parkes Weber, unaware of Klippel and Trenaunay’s report, described a patient with the 3 aforementioned symptoms as well as an arteriovenous malformation of the affected extremity.
The exact cause of Klippel-Trenaunay-Weber syndrome (KTWS) remains to be elucidated, although 4 theories exist:
- Intrauterine damage to the sympathetic ganglia or intermediolateral tract leading to dilated microscopic arteriovenous anastomoses as the cause as described by
- Deep vein abnormalities resulting to obstruction of venous flow that leads to venous hypertension, the development of varices, and limb hypertrophy
- Mesodermal defect during fetal development causes maintenance of microscopic arteriovenous communications
- Underlying mixed mesodermal and ectodermal dysplasia
There is no racial predilection is documented for KTWS and both genders are affected equally. It presents at birth or during early infancy or childhood.
Complete history and physical examination is required to diagnose KTWS. However, imaging studies such as arteriography and MRI can be useful in checking for complications.
Treatment of this syndrome can be medical and surgical. Medical interventions are conservative and symptomatic. Use of compression garments and limb elevation help reduce swelling and recurrent bleeding from the capillary or venous malformations. Heel inserts are used for limb discrepancies.
Laser treatments and debulking procedures are also practiced. However, these are very invasive and are generally only used as a last resort.
Complications such as skin breakdown and ulceration, bleeding, and secondary infection can be observed.
Well known copy editor and freelance writer Carla Sosenko and Professional golfer Casey Martin are some celebrities with KTWS.
Source: www.emedicine.com
