Klippel-Trenaunay Syndrome: To Be or Not to Be Afraid

Abstract

Klippel-Trenaunay syndrome (KTS) is a rare genetic syndrome comprising an abnormal development of soft tissues and the lymphovascular system with bony overgrowth, venous malformation, and port wine stains. We present an interesting case of a three-year-old child brought to our hospital with a swollen limb and raised skin lesions associated with bleeding from minor trauma. Most of the clinical characteristics of KTS were seen in our patient, including arteriovenous, soft tissue, capillary, and lymphatic abnormalities. The diagnosis of KTS is based on clinical examinations and imaging investigations. He had gross hypertrophy of the left lower limb with measurable lengthening compared to the opposite limb. Ultrasonography of the left limb revealed soft tissue hypertrophy with abnormal venous communication. The management of KTS is mainly symptomatic and should be approached conservatively if the patient has functional limbs without edema, bleeding, ulceration, or pain.

Keywords: bone and soft tissue hypertrophy; capillary-lymphatic-venous malformation; klippel-trenaunay syndrome; macrodactyly; port wine stain; sclerotherapy.

Figure 1. Multiple red to bluish-black papules and nodules that form a verrucous plaque over the port-wine stain

Figure 2. Gross hypertrophy of the left lower limb

Figure 3. Macrodactyly of the left foot