Medical Journal of Dr. D.Y. Patil Vidyapeeth

COMMENTARY
Year
: 2019  |  Volume : 12  |  Issue : 4  |  Page : 359--360

Klippel-Trenaunay Weber syndrome: A case report


Subhashish Das 
 Department of Pathology, Sri Devaraj Urs Medical College, Kolar, Karnataka, India

Correspondence Address:
Subhashish Das
Department of Pathology, Sri Devaraj Urs Medical College, Tamaka, Kolar, Karnataka
India




How to cite this article:
Das S. Klippel-Trenaunay Weber syndrome: A case report.Med J DY Patil Vidyapeeth 2019;12:359-360


How to cite this URL:
Das S. Klippel-Trenaunay Weber syndrome: A case report. Med J DY Patil Vidyapeeth [serial online] 2019 [cited 2020 Sep 27 ];12:359-360
Available from: http://www.mjdrdypv.org/text.asp?2019/12/4/359/262234


Full Text



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). 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

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2Lorda-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.
3Baskerville PA, Ackroyd JS, Browse NL. The etilogy of the Klippel Trenaunay syndrome. Ann Surg 1985;202:624-7.
4You CK, Rees J, Gillis DA, Steeves J. Klippel-Trenaunay syndrome: A review. Can J Surg 1983;26:399-403.
5Wang 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.
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8Stein SR, Perlow JH, Sawai SK. Klippel-Trenaunay-type Syndrome in pregnancy. Obstet Gynecol Surv 2006;61:194.
9Mumcuoglu KY. Clinical applications for maggots in wound care. Am J Clin Dermatol 2001;2:219-27.
10Barnard DR. Skeletal-muscular mechanisms of the larva of Lucilia sericata (Meigen) in relation to feeding habit. Pan Pac Entomol 1977;53:223-9.
11Chambers 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.
12Serra 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.
13Persico 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.
14Noel 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.