Medscape is available in 5 Language Editions – Choose your Edition here.


Klippel-Trenaunay-Weber Syndrome Clinical Presentation

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
Updated: Jun 22, 2016


Klippel-Trenaunay-Weber syndrome (KTWS) generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is the most common site followed by the arms, the trunk, and rarely the head and the neck. One report describes only upper limb involvement.[11]

Most patients demonstrate all 3 signs of the clinical syndrome: port-wine stain, varicose veins, and bony and soft tissue hypertrophies.

In a series of 252 patients at the Mayo Clinic, 63% of patients had all 3 features and 37% had 2 of the 3 features. Port-wine stain was seen in 98% of patients, varicosities or venous malformations in 72%, and limb hypertrophy in 67%. Atypical veins, including lateral veins and persistent sciatic vein, were present in 72% of patients. Finally, deep venous abnormalities included aneurysmal dilation, hypoplasia, aplasia, and absent or incompetent valves.

An anatomical analysis to determine the frequency of various vascular malformations and abnormal growth and assess any statistical relationship between vascular malformation type/location and abnormal growth in terms of length and girth was performed on 35 patients.[12] Leg bone circumferential hypoplasia was significantly related to the presence of intramuscular lesions. A single subcutaneous venous malformation was linked with subcutaneous hypertrophy.

Brain abnormalities include hemorrhage, infarction, hemimegalencephaly, venous malformation, arteriovenous malformations, cavernoma, aneurysm, hydrocephalus, choroid plexus abnormalities, atrophy, calcifications, leptomeningeal enhancement, cortical dysplasia, and seizures.[13] Pulmonary emboli secondary to venous limb thrombosis are a risk in patients with this syndrome.[14] Cerebral infarctions are rare, as are brain tumors.[15]



In Klippel-Trenaunay-Weber syndrome (KTWS), the capillary hemangioma or port-wine stain usually presents first.

This hemangioma has a distinct, linear border that respects the midline. Hemangioma is often noted on the lateral aspect of the limb.

It is typically of the nevus flammeus type, but cavernous hemangiomas or lymphangiomas may also occur. Nevus flammeus is a salmon pink patch, sometimes with a verrucous quality, which evolves to a deep purple color with time. Unlike strawberry hemangiomas, the port-wine stain hemangioma possesses neither a proliferative nor a regressing phase.

Hemangioma depth is variable. It may be limited to the skin or extend deeper to subcutaneous tissue, including muscle and bone. Visceral organs, such as the pleura, the spleen, the liver, the bladder, and the colon may also be affected. Visceral organ involvement portends greater morbidity secondary to internal hemorrhage that may manifest as hematuria or hematochezia.

If large enough, cutaneous hemangiomas may sequester platelets, leading to possible Kasabach-Merritt syndrome, a type of consumptive coagulopathy.[16] The hemangioma often overlies the vascular malformation.

Varicose veins in KTWS are congenital.

The Klippel-Trenaunay vein is a large, lateral, superficial vein sometimes seen at birth. This vein begins in the foot or the lower leg and travels proximally until it enters the thigh or the gluteal area. Otherwise, varicosities may not be clinically evident until the child begins to ambulate.

Varicosities may be extensive, though they often spare the saphenous distribution. They are seen below the knee, laterally above the knee, and occasionally in the pelvic region. Varicosities may affect the superficial, deep, and perforating venous systems.

Surgical exploration has demonstrated atresia and agenesis of deep veins, compression due to fibrous bands, aberrant arteries, abnormal muscles, or venous sheaths.

Rarely, varicosities have been found in the bladder, the colon, and the pulmonary vessels.

Varicosities may remain stable in size or gradually expand. Pain and lymphedema are commonly reported. These symptoms may worsen during pregnancy.

Arteriovenous fistulas, the feature that distinguishes Klippel-Trenaunay syndrome from Parkes-Weber syndrome, are rarely found in the affected extremity.

If present, they can occasionally be palpated as a pulsatile mass, thrill, or bruit on physical examination.

Hyperthermia and a positive Branham sign (bradycardia with the application of compression on an artery proximal to the malformation) are also indicators of an arteriovenous malformation.

Bony and soft tissue hypertrophies are the third sign of KTWS.

Limb hypertrophy can be secondary to increased length (bony involvement) and/or increased girth (soft tissue involvement). Hypertrophy may be appreciated at birth. It usually progresses during the first years of life. A greater degree of hypertrophy may be seen in patients with coexisting arteriovenous malformation. Although lymphedema is also seen in patients, true hypertrophy of the affected soft tissues is present.

Limb discrepancies of as much as 12 cm have been reported.

Occasionally, the involved limb may be atrophied rather than hypertrophied.

Other features include lymphatic obstruction, spina bifida, hypospadias, polydactyly, syndactyly, oligodactyly, hyperhidrosis, hypertrichosis, paresthesia, decalcification of involved bones, chronic venous insufficiency, stasis dermatitis, poor wound healing, ulceration, thrombosis, angiosarcoma, and emboli.[17, 18] Orofacial abnormalities may require specialized dental and anesthesia care.[19]

Magnetic resonance lymphangiography (MRL) with gadobenate dimeglumine as the contrast showed 31 of 32 patients exhibited lymphatic vessel and/or lymph node anomalies, including hyperplasia (11/31), hypoplasia or aplasia (20/31) of lymphatic vessels, and lymphedema (31/31) of the affected limbs. A high concomitance of malformations of the lymphatic system and veins in the affected limbs of were noted in patients with KTS.[20]



See Pathophysiology.

Contributor Information and Disclosures

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Lester F Libow, MD Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Texas Medical Association

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jean Paul Ortonne, MD Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.


The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Jane H. Lisko, MD, and Frederick Fish, MD, to the development and writing of this article.

  1. Bliznak J, Staple TW. Radiology of angiodysplasias of the limb. Radiology. 1974 Jan. 110(1):35-44. [Medline].

  2. Servelle M. Klippel and Trenaunay's syndrome. 768 operated cases. Ann Surg. 1985 Mar. 201(3):365-73. [Medline].

  3. Baskerville PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trenaunay syndrome. Ann Surg. 1985 Nov. 202(5):624-7. [Medline].

  4. McGrory BJ, Amadio PC. Klippel-Trenaunay syndrome: orthopaedic considerations. Orthop Rev. 1993 Jan. 22(1):41-50. [Medline].

  5. Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I. A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. Am J Med Genet. 1996 Jun 14. 63(3):426-7. [Medline].

  6. Hofer T, Frank J, Itin PH. Klippel-Trenaunay syndrome in a monozygotic male twin: supportive evidence for the concept of paradominant inheritance. Eur J Dermatol. 2005 Sep-Oct. 15(5):341-3. [Medline].

  7. Hu Y, Li L, Seidelmann SB, et al. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. Ann Hum Genet. 2008 Sep. 72:636-43. [Medline]. [Full Text].

  8. 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 Aug. 45(8):883-90. [Medline].

  9. Sung HM, Chung HY, Lee SJ, Lee JM, Huh S, Lee JW, et al. Clinical Experience of the Klippel-Trenaunay Syndrome. Arch Plast Surg. 2015 Sep. 42 (5):552-8. [Medline].

  10. Redondo P, Bastarrika G, Aguado L, et al. Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trénaunay syndrome. J Am Acad Dermatol. 2009 Oct. 61(4):621-8. [Medline].

  11. Akcali C, Inaloz S, Kirtak N, Ozkur A, Inaloz S. A case of Klippel-Trenaunay syndrome involving only upper limbs. G Ital Dermatol Venereol. 2008 Aug. 143(4):267-9. [Medline].

  12. Funayama E, Sasaki S, Oyama A, Furukawa H, Hayashi T, Yamamoto Y. How do the type and location of a vascular malformation influence growth in Klippel-Trénaunay syndrome?. Plast Reconstr Surg. 2011 Jan. 127(1):340-6. [Medline].

  13. Renard D, Larue A, Taieb G, Jeanjean L, Labauge P. Recurrent cerebral infarction in Klippel-Trenaunay-Weber syndrome. Clin Neurol Neurosurg. 2012 Feb 17. [Medline].

  14. Upadhyay H, Sherani K, Vakil A, Babury M. A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. Respir Med Case Rep. 2016. 17:68-70. [Medline].

  15. Yilmaz T, Cikla U, Kirst A, Baskaya MK. Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. J Med Case Rep. 2015 Apr 17. 9:83. [Medline].

  16. Bhat L, Bisht S, Khanijo K. Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. Indian Pediatr. 2015 Nov. 52 (11):987-8. [Medline].

  17. Furness PD 3rd, Barqawi AZ, Bisignani G, Decter RM. Klippel-Trénaunay syndrome: 2 case reports and a review of genitourinary manifestations. J Urol. 2001 Oct. 166(4):1418-20. [Medline].

  18. Ploegmakers MJ, Pruszczynski M, De Rooy J, Kusters B, Veth RP. Angiosarcoma with malignant peripheral nerve sheath tumour developing in a patient with klippel-trénaunay-weber syndrome. Sarcoma. 2005. 9(3-4):137-40. [Medline]. [Full Text].

  19. Fakir E, Roberts T, Stephen L, Beighton P. Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Jun. 107(6):754-8. [Medline].

  20. Liu NF, Lu Q, Yan ZX. Lymphatic malformation is a common component of Klippel-Trenaunay syndrome. J Vasc Surg. 2010 Dec. 52(6):1557-63. [Medline].

  21. Garg A, Trent ME, Strouse JJ, Mitchell SE, Rowe PC. Delayed diagnosis of iliac vein thrombus in a sexually-active adolescent with Klippel-Trénaunay syndrome. J Pediatr Adolesc Gynecol. 2009 Jun. 22(3):e29-32. [Medline].

  22. Bouchard-Fortier G, El-Chaar D, Hawrylyshyn P, Kingdom J, Lyons E. Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. J Obstet Gynaecol Can. 2014 Aug. 36(8):665-6. [Medline].

  23. Purkait R, Samanta T, Sinhamahapatra T, Chatterjee M. Overlap of sturge-weber syndrome and klippel-trenaunay syndrome. Indian J Dermatol. 2011 Nov. 56(6):755-7. [Medline]. [Full Text].

  24. Sfaihi L, Aissa K, Fourati H, Kamoun F, Mnif Z, Kamoun T, et al. Klippel Trenaunay syndrome in association with Sturge Weber syndrome about one case. Tunis Med. 2014 Feb. 92(2):173-4. [Medline].

  25. Qi HT, Wang XM, Zhang XD, Zhang MH, Li CM, Bao SG, et al. The role of colour Doppler sonography in the diagnosis of lower limb Klippel-Trénaunay syndrome. Clin Radiol. 2013 Jul. 68(7):716-20. [Medline].

  26. Li X, Tian J. Multidetector row computed tomography arteriography in the preoperative assessment of patients with Klippel-Trénaunay syndrome. J Am Acad Dermatol. 2009 Feb. 60(2):345-6; author reply 346. [Medline].

  27. Lee A, Driscoll D, Gloviczki P, Clay R, Shaughnessy W, Stans A. Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. Pediatrics. 2005 Mar. 115(3):744-9. [Medline].

  28. Andreasen KR, Tabor A, Weber T. Klippel-Trenaunay-Weber syndrome in pregnancy and at delivery. J Obstet Gynaecol. 1999 Jan. 19(1):78-9. [Medline].

  29. Hergesell K, Kroger K, Petruschkat S, Santosa F, Herborn C, Rudofsky G. Klippel-Trenaunay syndrome and pregnancy. Int Angiol. 2003 Jun. 22(2):194-8. [Medline].

  30. Spicer MS, Goldberg DJ, Janniger CK. Lasers in pediatric dermatology. Cutis. 1995 May. 55(5):270-2, 278-80. [Medline].

  31. Yildiz F, Yilmaz M, Cengiz M, et al. Radiotherapy in the management of Klippel-Trénaunay-Weber syndrome: report of two cases. Ann Vasc Surg. 2005 Jul. 19(4):566-71. [Medline].

  32. Huang Y, Jiang M, Li W, Lu X, Huang X, Lu M. Endovenous laser treatment combined with a surgical strategy for treatment of venous insufficiency in lower extremity: a report of 208 cases. J Vasc Surg. 2005 Sep. 42(3):494-501; discussion 501. [Medline].

  33. Willis-Owen CA, Cobb JP. Total hip arthroplasty in Klippel-Trenaunay syndrome. Ann R Coll Surg Engl. 2008 Nov. 90(8):W6-8. [Medline]. [Full Text].

  34. Yaqub Y, Suarez J, Perez-Verdia A, Arvandi A, Nugent KM. Klippel-Trenaunay syndrome and radial artery coronary graft spasm. J Coll Physicians Surg Pak. 2009 Oct. 19(10):658-60. [Medline].

  35. Karunamurthy A, Pantanowitz L, Lepe JG, Reyes-Múgica M. Lethal outcomes in Klippel-Trenaunay-Weber syndrome (KTS). Pediatr Dev Pathol. 2013 Aug 5. [Medline].

  36. Meine JG, Schwartz RA, Janniger CK. Klippel-Trenaunay-Weber syndrome. Cutis. 1997 Sep. 60(3):127-32. [Medline].

  37. Spicer MS, Schwartz RA, Janniger CK. Nevus flammeus. Cutis. 1994 Nov. 54(5):315-20. [Medline].

Klippel-Trenaunay syndrome in a young person. Note the port-wine stain extending to the buttocks. These lesions can be associated with venous malformations involving the rectum and bladder.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.