Klippel–Trenaunay syndrome

A 29-year-old female presented to the dermatology outpatient department with a reddish stain over her right buttock, thigh, and leg since birth. The patient started developing nodularity around the stain during early childhood. She had intermittent pain over the stain and nodular areas. On cutaneous examination, limb length abnormality was present with a longer right limb than the left. The right thigh, leg, and foot girth were higher than the left side. Non-blanchable dull erythematous stain with a geographical margin extending from the right buttock to the right midcalf was present [Figure 1]. Grouped papules and vesicles with frog spawn appearance were present over the right buttock. Dilated and tortuous veins were noted over the right buttock, posterolateral thigh, and leg, extending to the right foot’s dorsal aspect [Figures 1 and 2]. Patients had no other comorbidities. Genetic testing was not done as the facility for it was not available. Thus, a diagnosis of Klippel–Trenaunay syndrome (KTS) was made based on history and clinical examination. The patient was advised elastic compression stockings, limb elevation, avoid prolonged standing, and 6 monthly follow-up to detect any complications. KTS is a complex vascular malformation due to a mutation in the PIK3CA gene associated with capillary malformation, venous malformation, and overgrowth of the involved limb. Lymphatic malformation may be associated with KTS.^[1]

Close

Figure 1:

Non-blanchable dull erythematous stain with a geographical margin noted extending from the right buttock to the right midcalf. Dilated and tortuous veins were noted over the right buttock and posterolateral thigh extending to the leg.

Export to PPT

Close

Figure 2:

Grouped papules and vesicles with frog spawn appearance present over the right buttock. Dilated and tortuous veins were noted over the right buttock and posterolateral thigh.

Export to PPT