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.

Klippel-Trenaunay Syndrome: a case report with brief review of literature

“…4 Berry et al in 1998 speculated that in KTS there is an alteration in vascular remodelling, perhaps at the level of altered angiopoietin-2 antagonism. 5 Various case reports of KTS are present in world literatures. Still, incidence and genetic predisposition of this rare disease has not been established.…”

“…It includes pulse-dye laser therapy for port wine stain. 5 Serial sclerotherapy with absolute alchohol has been used with good success but can cause nerve injury and cutaneous damage. 15 Foam sclerotherapy with sodium tetra decyl sulphate and polidocanol has been a low risk and effective treatment of superficial venous disease.…”

Sturge-Weber syndrome with Klippel-Trenaunay syndrome and hypoplasia of internal carotid artery

“…In KTS varicosities usually appear by 12 years of age 12 . Microcephaly, macrocephaly, cerebral and spinal arteriovenous malformations and orbito-frontal varices are some CNS anomalies associated with KTS 13 .…”

Klippel Trenaunay Syndrome, Inverse Klippel Trenaunay Syndrome: Hypertrophy of Lower Limbs and Atrophy of the Upper Limbs and Facial Muscles: Case Report and Literature Review

“…Several hypotheses regarding cause and pathogenesis in KTS exist, but none explains the full characteristics of KTS. Hypotheses include an alteration in vascular remodeling, perhaps at the level of altered angiopoietin-2 antagonism [18]. Servelle's theory stated that there is a primary obstruction of the venous system resulting in venous hypertension and thus development of abnormal venous pathways and tissue overgrowth [19].…”

“…The lower limb is the site of malformation in approximately 95% of patients [18,31]. The bony abnormalities may affect all bones in an extremity or limited to one or two bones.…”