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COMMENTARY
Year : 2019  |  Volume : 12  |  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 Publication8-Jul-2019

Correspondence Address:
Subhashish Das
Department of Pathology, Sri Devaraj Urs Medical College, Tamaka, Kolar, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mjdrdypu.mjdrdypu_226_18

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How to cite this article:
Das S. Klippel-Trenaunay Weber syndrome: A case report. Med J DY Patil Vidyapeeth 2019;12:359-60

How to cite this URL:
Das S. Klippel-Trenaunay Weber syndrome: A case report. Med J DY Patil Vidyapeeth [serial online] 2019 [cited 2019 Oct 21];12:359-60. Available from: http://www.mjdrdypv.org/text.asp?2019/12/4/359/262234



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.[1] The exact incidence of KTS remains unknown, however, the prevalence of KTS is estimated to be about 1:100,000 live births.[2]

It was first described in 1900 by the French physicians Klippel and Trenaunay [3] and was classified by You et al. in 1983[4] 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).[5]

The main complications of KTS include to venous abnormalities are chronic venous insufficiency, cellulitis, infections, superficial thrombophlebitis, and deep vein thrombosis.[6]

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.[7]

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.[8]

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.[9] 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.[10] 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.[11],[12],[13]

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.[14]



 
  References Top

1.
Kihiczak GG, Meine JG, Schwartz RA, Janniger CK. Klippel-Trenaunay syndrome: A multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth. Int J Dermatol 2006;45:883-90.  Back to cited text no. 1
    
2.
Lorda-Sanchez I, Prieto L, Rodriguez-Pinilla E, Martinez-Frias ML. Increased parental age and number of pregnancies in klippel-trenaunay-weber syndrome. Ann Hum Genet 1998;62:235-9.  Back to cited text no. 2
    
3.
Baskerville PA, Ackroyd JS, Browse NL. The etilogy of the Klippel Trenaunay syndrome. Ann Surg 1985;202:624-7.  Back to cited text no. 3
    
4.
You CK, Rees J, Gillis DA, Steeves J. Klippel-Trenaunay syndrome: A review. Can J Surg 1983;26:399-403.  Back to cited text no. 4
    
5.
Wang Q, Timur AA, Szafranski P, Sadgephour A, Jurecic V, Cowell J, et al. Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenet Cell Genet 2001;95:183-8.  Back to cited text no. 5
    
6.
Lee A, Driscoll D, Gloviczki P, Clay R, Shaughnessy W, Stans A, et al. Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: A review. Pediatrics 2005;115:744-9.  Back to cited text no. 6
    
7.
Maari C, Frieden IJ. Klippel-Trénaunay syndrome: The importance of “geographic stains” in identifying lymphatic disease and risk of complications. J Am Acad Dermatol 2004;51:391-8.  Back to cited text no. 7
    
8.
Stein SR, Perlow JH, Sawai SK. Klippel-Trenaunay-type Syndrome in pregnancy. Obstet Gynecol Surv 2006;61:194.  Back to cited text no. 8
    
9.
Mumcuoglu KY. Clinical applications for maggots in wound care. Am J Clin Dermatol 2001;2:219-27.  Back to cited text no. 9
    
10.
Barnard DR. Skeletal-muscular mechanisms of the larva of Lucilia sericata (Meigen) in relation to feeding habit. Pan Pac Entomol 1977;53:223-9.  Back to cited text no. 10
    
11.
Chambers L, Woodrow S, Brown AP, Harris PD, Phillips D, Hall M, et al. Degradation of extracellular matrix components by defined proteinases from the greenbottle larva Lucilia sericata used for the clinical debridement of non-healing wounds. Br J Dermatol 2003;148:14-23.  Back to cited text no. 11
    
12.
Serra R, Buffone G, Molinari V, Montemurro R, Perri P, Stillitano DM, et al. Low molecular weight heparin improves healing of chronic venous ulcers especially in the elderly. Int Wound J 2015;12:150-3.  Back to cited text no. 12
    
13.
Persico G, Amato B, Aprea G, Cerfolio P, Markabaoui AK. The early effects of intravenous L-propionyl carnitine on ulcerative trophic lesions of the lower limbs in arteriopathic patients: A controlled randomized study. Drugs Exp Clin Res 1995;21:187-98.  Back to cited text no. 13
    
14.
Noel AA, Gloviczki P, Cherry KJ Jr., Rooke TW, Stanson AW, Driscoll DJ, et al. Surgical treatment of venous malformations in Klippel-Trénaunay syndrome. J Vasc Surg 2000;32:840-7.  Back to cited text no. 14
    




 

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