|Year : 2019 | Volume
| Issue : 4 | Page : 359-360
Klippel-Trenaunay Weber syndrome: A case report
Department of Pathology, Sri Devaraj Urs Medical College, Kolar, Karnataka, India
|Date of Web Publication||8-Jul-2019|
Department of Pathology, Sri Devaraj Urs Medical College, Tamaka, Kolar, Karnataka
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Das S. Klippel-Trenaunay Weber syndrome: A case report. Med J DY Patil Vidyapeeth 2019;12:359-60
Klippel-Trenaunay Syndrome (KTS) is a rare congenital disorder due to a sporadic, autosomal dominant, or mosaic homozygosity mutation. KTS syndrome is characterized by a triad of varicose veins, cutaneous capillary malformation with dermatomal distribution, and hypertrophy of bone and soft tissue and can be a diagnosis on the basis of any two of these features. The exact incidence of KTS remains unknown, however, the prevalence of KTS is estimated to be about 1:100,000 live births.
It was first described in 1900 by the French physicians Klippel and Trenaunay  and was classified by You et al. in 1983 into five levels of severity which are as follows: In the Class I, the features are venous dysplasia and phlebectasic dysplasia; the peculiarity of II is arterial dysplasia. In the Class III described arterial and association venous dysplasias, phlebectasia without arteriovenous shunts and angiodysloaisas with shunt (Klippel-Treanaunay- Weber syndrome More Details). The most serious Class is the IV with mixed angiodysplasias (atypical KTS).
The main complications of KTS include to venous abnormalities are chronic venous insufficiency, cellulitis, infections, superficial thrombophlebitis, and deep vein thrombosis.
The exact etiopathogenesis of KTS remains unknown. According to Maari C, et al., there is a mesothermal developmental abnormally which leads to increase in size and number of veins accompanied by increase in size of the bone and soft tissue because of the absence of delegate balance of vascular endothelial growth factor-mediated vascular remodeling.
Diagnostic tests in KTS should focus on the evaluation of the type, extent, and the severity of the malformation. The absence of a clinically significant arteriovenous shunt should be confirmed.
Plain X-ray of long bones, computed tomography and magnetic resonance imaging contrast venography is essential ancillary tools along with a color-Doppler ultrasound, radiography, ascending phlebogram with or without contrast material are essential for the diagnosis of KTS.
Patients with KTS should receive multidisciplinary medical care. Treatment of KTS patients has consisted mainly of conservative medical management, including compressive stocking and anti-inflammatory medications for pain relief. Larvae therapy can also be used for the treatment of KTS it was first performed by Zacharias and Jones. Scientists first postulated that the debriding action of larvae was due to their mechanical wriggling using a pair of mandibles/hooks for movement and attachment. Recently, Chambers et al. described three proteolytic enzyme classes have been identified in the maggot excretions that can degrade extracellular matrix components, including laminin and fibronectin.,,
Hence, we conclude by noting that the KT syndrome is a sporadically occurring rare disorder that may present with a myriad of limb and cutaneous abnormalities and the following differential diagnosis, including the Proteus syndrome, Maffucci's Syndrome, Blue Nevus Bleb Syndrome and Turner's Syndrome, etc., may be considered for such cases.
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