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Klippel-Trenaunay syndrome is a rare disease, It is characterized by the following triad of features: cutaneous capillary malformations, soft tissue or bony hypertrophy (or both); and varicose veins or venous malformations.
Klippel-Trenaunay syndrome represents a vascular malformation combined with congenital disorder whose expression varies from subject to another. This affection, although rare, represents the most common of angio-osteo-hypertrophic syndroms, by associating an extended angioma, monomelic gigantism. The pathophysiology and etiopathogenesis of this syndrome are not yet well established, with several controversial theories .
We report a case of Klippel Trenaunay Syndrome.
A mother comes to our department for an evaluation because her right leg and arm are becoming erythematous since the age of 20. History reveals that the patient was born with a palepink mark over her right thigh that has darkened with time. The patient did not walk until 16 months.
At the dermatologic examination, we found multiple angiomatous plaques in the trunk, back and the right lower limb, and hypertrophic limb. The patient was pregnant at the time.
Klippel-Trenaunay syndrome is a rare disease, with estimates of approximately 1 per 30, 000live births .
It is characterized by the following triad of features: cutaneous capillary malformations [usually port wine stains], which frequently are located laterally, need not extend over the entire affected limb, and may be found at sites other than the hypertrophied limb; soft tissue or bony hypertrophy [or both]; and varicose veins or venous malformations, often with persistent lateral embryologic veins . Usually, findings are isolated to one extremity; however, multiple extremities, unilateral, and even whole-body involvement have been reported. While the leg is the most commonly affected site, the arms, trunk, and rarely the head and neck may also be involved . Most patients exhibit the triad of Klippel—Trenaunay syndrome; however, Klippel—Trenaunay syndrome can be diagnosed on the basis of any 2 of these 3 features. In the majority of cases, at least one of the findings is noted shortly after birth, with the remaining features becoming evident as the patient begins to stand and ambulate .
The etiology of the disease is still under investigation, but it is well accepted that venous abnormalities are not the causative insult. Embryonic mesodermal changes resulting in increased angiogenesis lead to increased vascular flow causing tissue hypertrophy and vascular changes. Most experts agree that the majority of cases are due to sporadic polygenic mutations [6, 7].
A single treatment plan is not recommended, a multidisciplinary approach to treatment and prevention of possible complications of KTS including pediatrician, internist, phlebologist, pediatric, orthopedic, plastic and vascular surgeons, an interventional radiologist, cardiologist or vascular internist and a physical therapy physician provides optimal care for the patient .
Klippel-Trenaunay syndrome is a rare disease of the vascular and lymphatic system often presenting with a characteristic “nevus flammeus, ” or capillary malformation at birth. Vascular malformations and growth abnormalities usually occur in the lower extremities and on the same side of the body. These can lead to hypertrophy of both bony and soft tissues, with hypotrophy being less common. Most cases are difficult to treat due to high rates of recurrence, but individualized intervention can help manage pain and help prevent serious complications.
Figure 1: Multiple angiomatous plaques in the trunk, back and the right lower limb, and hypertrophic limb.