Clinical diagnosis of Klippel-Trenaunay syndrome in a 3-year-old patient

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Klippel-Trenaunay syndrome is a very rare congenital vascular anomaly, considered to be a distinct entity that belongs to the vascular malformations group. It is characterized by the association of capillary malformation, venous malformation as well as limb overgrowth that generally affect one extremity [1]. Although clinical characteristics of this disorder are well known, the epidemiology and pathophysiology still remain to be defined [2]. Most cases of Klippel-Trenaunay syndrome analyzed genomically were found to be caused by mosaic-activating mutations in the PIK3CA gene [3]. Awareness of these disorders is important for physicians for managing potential complications.

We present the case of a 3-year-old female patient who appeared in our dermatology department for capillary and venous malformations, associated with slight oedema of the lower right limb, which has been evolving since birth (Fig. A-B). Additional investigations were conducted to rule out arterial disorders and confirm the venous nature of the abnormalities. The patient was clinically diagnosed with KTS and his varicosities were treated surgically using phlebectomy with stab avulsion technique.  We can conclude that identification and accurate diagnosis are challenging. The diagnosis of Klippel-Trenaunay syndrome is primarily based upon the presence of the key clinical features, which include capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation