Klippel-Trenaunay syndrome

Abstract

Patients with Klippel-Trenaunay (KT) syndrome have a complex constellation of anomalies that includes cutaneous capillary malformation (usually on an affected limb), abnormal development of the deep and superficial veins, and limb asymmetry, usually enlargement. Mixed vascular malformations may be present and include capillary, venous, arterial, and lymphatic systems. The records of 79 patients referred for vascular anomalies were reviewed and 49 were found to have the three "cardinal" anomalies of KT syndrome. Twenty-six females and 23 males had 46 affected legs (27 right legs), 23 affected arms (15 right), 21 affected trunks, and 10 affected heads. Thirty-six had only one affected quadrant, 8 had two, and 5 had three or more. Although 40 patients had increased limb girth, measurable length discrepancy was noted in only 17 individuals. Patients were evaluated using a noninvasive imaging strategy including color duplex ultrasonography, MRI, lymphoscintigraphy, and plain radiographs. Treatment included compression, pulsed-dye laser treatment, reduction of arteriovenous malformations, and orthopedic procedures for overgrowth. All KT cases in this series occurred sporadically. We speculate that KT syndromes may be due to a somatic mutation for a factor critical to vasculogenesis and angiogenesis in embryonic development.

Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

“…KTS (MIM 149000) [45][46][47][48] is defined as a congenital vascular disorder comprised of (i) capillary malformations, (ii) venous malformations or extensive distribution and early onset of the varicose veins, and (iii) hypertrophy of the affected tissues. Lymphatic malformations also occur in some KTS patients (11% of cases).…”

Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trénaunay-Weber syndrome

“…The syndrome may be due to a somatic mutation for a factor critical to vasculogenesis and angiogenesis in embryonic development. 1 The vascular disorder is a combined capillary, venous, and lymphatic malformation with no evidence of substantial arteriovenous shunting. 2 Ophthalmic features include orbital varix, retinal vascular tortuosity, choroidal angioma, 3 heterochromia iridum, and optic nerve enlargement.…”

Klippel-Trenaunay-Syndrom

“…Ein molekulares Ungleichgewicht der Angiogenese und Blutgefäßreparatur sowie eine Aktivität von Angiopoietin-1 und -2 werden mit der Pathogenese von KTS in Verbindung gebracht [2,3]. Die meisten Komplikationen treten in der Kindheit auf und entstehen im Rahmen vaskulärer Komplikationen.…”