Klippel–Trenaunay syndrome: A multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth

Abstract

Klippel-Trenaunay syndrome is characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and soft tissue. Appropriate evaluation and treatment of children displaying features of the disease may minimize morbidity. The clinical appearance, etiology, genetics, diagnostics, and treatment of Klippel-Trenaunay syndrome are herein explored.

Congenital Vascular Anomalies: A Case Report

“…hypertrophy of an extremity or a part of it) [1]. In this syndrome, the vascular malformation generally localized to the hypertrophied area [5]; in this case, the both lower limbs are hypertrophied and stained with port-wine stains which was extending onto the trunk which is consistent with the other study [5,6]. The deep venous system may be absent or hypoplastic.…”

An Unusual Case of Klippel-Trenaunay-Weber Syndrome Presenting with Portosystemic Encephalopathy

“…In addition to the triad of clinical features, various complications associated with the vascular pathologic condition can occur in KTS, including thrombotic episodes in the limbs, cellulitis, multiple pulmonary emboli, and localized consumptive coagulopathy (7). Gastrointestinal and genitourinary bleeding has also been reported in several cases (19,20).…”

“…4C) (6,7) Ab d o mi n a l a n g i o g r a m ( A, B ) , a n d l e f t 1 1 t h i n t e r c o s t a l a r t e r i o g r a m ( C) . Di g i t a l s u b t r a ct i o n t r a n s a r t e r i a l p o r t o g r a m ( A) d e mo n s t r a t e s i n t r a h e p a t i c P HV s h u n t s .…”

Successful Treatment of Unilateral Klippel-Trenaunay Syndrome With Pulsed-Dye Laser in a 2-Week Old Infant

“…1 Usually these symptoms are limited to one extremity; however, multiple extremities, unilateral and even whole body involvement have been described. [2][3][4][5][6] While lower extremity is the most commonly affected site, the arms, trunk, and rarely the head and neck may be involved, as well.…”