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Lymphedema Klippel-Trenaunay-Weber Syndrome

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Klippel-Trenaunay-Weber Syndrome

Parkes Weber Syndrome

Related Terms: Parkes Weber syndrome, PWS, Klippel-Trenaunay syndrome, KTS, Kasabach-Merritt syndrome, angioosteohypertrophy syndrome, cutaneous capillary malformation, congential vascular nevus, capillary hemangioma, port-wine stain, lymphedema, angioosteohypertrophy syndrome


Clinical Features:

First described by French physicians Klippel and Trenaunay in 1900, this syndrome is characterized by port-wine stain (capillary hemangioma), varicose veins and bony and soft tissue hypertrophy involving an extremity.

Other features involve lymphedema or lymphatic obstruction, cellulitis, chronic venous insufficiency, stasis dermatitis, poor wound healing, ulceration, thrombosis, and emboli.


Capillary hemangiomas (port-wine stain),  stasis dermatitis, thrombophlebitis, cellulitis, limb disparity, and more serious sequelae such as thrombosis, coagulopathy, bleeding, pulmonary embolism, and congestive heart failure. (1), lymphedema is also a consistent complication.

Other indications may include asymmetric face, facial haemangiomas, advanced tooth eruption, macrocephaly, heterotopia, glaucoma, cutaneous pustules/ulcers


Klippel Trenaunay appears to be a non-hereditary syndrome although there is still an ongoing discussion involving this.


Simple diagnosis can be made by observation and examination.  Venous and lymphatic complications are diagnosed using radiological tests such as lymphoscintigrahy, ultra-sounds, and MRI.  Venograms, and  arteriograms may also be used.


Treatment is varied for the different symptoms present. Compression garments are used to control the lymphedema, prophylactic antibiotics are of course, used to treat the cellulitis and lymphangitis spells. Orthopedic procedures are available for the limb hypertrophy and wound treatment is sometimes necessary for ulcerations.

Other treatments for the symptoms or complications include lasers for the hemangiomas, and surgical intervention for the vascular anomalies may be called for.


Kasabach-Merritt syndrome

In 1940, Kasabach and Merritt described a male infant with a discolored, indurated lesion on his left thigh that grew rapidly and affected the entire left leg, scrotum, abdomen, and thorax. The infant also had consumptive coagulopathy andthrombocytopenia. This association has become known as Kasabach-Merritt syndrome (KMS) and more recently as the Kasabach-Merritt phenomenon (KMP).

For an overview see:



Klippel-Trenaunay-Weber- Syndrome

Information Page


Klippel-Trenaunay-Weber Syndrome

MeSH definition: A rare condition usually affecting one extremity, characterized by hypertrophy of the bone and related soft tissues, large cutaneous hemangiomas, persistent nevus flammeus, and skin varices. (Dorland, 27th ed)


Klippel-Trenaunay-Weber Syndrome

Author: Jane H Lisko, MD, Staff Physician, Department of Dermatology, University of Minnesota Medical School

Coauthor(s): Frederick Fish, MD, Director, Department of Dermatology and Cutaneous Surgery, St Paul Ramsey Medical Center; Associate Clinical Professor, Department of Dermatology, University of Minnesota

Last Updated: May 27, 2003

Synonyms and related keywords: Parkes Weber syndrome, Klippel-Trenaunay syndrome, KTWS, port-wine stain, varicose veins, bony and soft tissue hypertrophy, arteriovenous malformation

Coauthor(s): Frederick Fish, MD, Director, Department of Dermatology and Cutaneous Surgery, St Paul Ramsey Medical Center; Associate Clinical Professor, Department of Dermatology, University of Minnesota



Alternative titles; symbols



A number sign (#) is used with this entry because at least some cases of Klippel-Trenaunay syndrome are caused by mutation in or gain-of-function translocation involving the VG5Q gene (608464).

The features of Klippel-Trenaunay-Weber syndrome are large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disorder resembles, clinically and in its lack of definite genetic basis, Sturge-Weber syndrome (185300), and indeed the 2 have been associated in some cases (Harper, 1971). Suggestions of a genetic 'cause' are meager (Waardenburg, 1963). See 116860. Lindenauer (1965) described brother and sister. He suggested that when arteriovenous fistula is also present, the disorder is distinct from the KTW syndrome and might be called Parkes Weber syndrome, since Weber (1907) described cases of this type as well as cases seemingly identical to those of Klippel and Trenaunay (1900). Lindenauer (1965) also suggested that the deep venous system is atretic in KTW syndrome and, as a corollary, that stripping of varicose veins is unwise. Campistol et al. (1988) described an affected 19-year-old woman who had multiple renal pelvic hemangiomas and renal artery aneurysm. Viljoen (1988) reviewed the clinical features of the syndrome. Lawlor and Charles-Holmes (1988) described a 25-year-old woman with KTW syndrome who had life-threatening menorrhagia due to uterine hemangioma. In an infant with this syndrome, Mor et al. (1988) observed hydrops fetalis (gross edema of the limbs, ascites, and palpable liver). The infant lost 520 gm of weight in the first 6 days of life without medication. 30 MEDLINE Neighbors

Aelvoet et al. (1992) provided evidence that Klippel-Trenaunay syndrome occasionally shows familial aggregation. In addition, they found isolated vascular nevi to be overrepresented in relatives of KTS patients. Happle (1993) suggested that what he referred to as paradominant inheritance most satisfactorily explains the findings. According to this concept, KTS would be caused by a single gene defect. Heterozygous individuals would be, as a rule, phenotypically normal, and therefore the allele would be transmitted imperceptibly through many generations. The trait would only be expressed when a somatic mutation occurred in the normal allele at an early stage of embryogenesis, giving rise to a clonal population of cells either homozygous or hemizygous for the KTS mutation. One example of a genetic mechanism that might cause homozygosity of a cell population arranged in a mosaic pattern is somatic recombination. Presumably, diffuse involvement of the entire body would not be possible because of nonviability of embryos developing from a homozygous zygote. 30 MEDLINE Neighbors

Muluk et al. (1995) described the case of a 32-year-old man in whom progressive pulmonary insufficiency was found to be due to repeated pulmonary emboli from the deep venous malformations associated with KTS. Samuel and Spitz (1995) reviewed the clinical features and management of 47 children with KTS treated since 1970. Hemangiomas and soft tissue and/or skeletal hypertrophy were present in all 47 patients; venous varicosities developed in 37 (79%). None had clinical evidence of macrofistulous arteriovenous communications. Thromboembolic episodes occurred in 5 children (11%), and 25 (53%) experienced thrombophlebitis. The Kasabach-Merritt syndrome (141000) was observed in 21 (45%), and 6 (13%) presented with high-output heart failure. Other manifestations included hematuria in 5 (11%), rectal or colonic hemorrhage in 6 (13%), and vaginal, vulval, or penile bleeding in 6 (13%) children with visceral and pelvic hemangiomas. In 26 patients (55%), symptomatic treatment only was required. Surgery was undertaken in selected cases for complications of the hemangioma, for cosmetic reasons, and for chronic venous insufficiency. Only 1 of the 4 children who underwent resection of varicose veins improved. 30 MEDLINE Neighbors

Whelan et al. (1995) reported the case of a girl with KTW syndrome associated with a reciprocal translocation: t(5;11)(q13.3;p15.1). This raised the possibility that this disorder is due to a single gene defect and that the gene is located on 5q or p11. At birth a capillary hemangioma of the right arm and a vascular anomaly of the left trunk with extension onto the left thigh was noted. At age 3 months, the patient's mother noted that the right second toe was larger than corresponding left toe. Subsequent progression to right leg hypertrophy was noted in the first 5 years of life. 30 MEDLINE Neighbors

Ceballos-Quintal et al. (1996) reported a family in which a child had large skin hemangiomata, overgrowth of the right leg, and severe heart defects (patent ductus arteriosus (see 607411), atrial septal defect, prolapsed tricuspid valve, and pulmonic stenosis). Her mother had a large capillary hemangioma on the left side of the back and developed severe varicosities in both legs. The maternal grandmother developed severe varicosities of the legs at a young age. The clinical signs in the mother and maternal grandmother were interpreted as mild expression of the KTW syndrome and the family tree was thought to support autosomal dominant inheritance. 30 MEDLINE Neighbors

By ultrasound examination, Christenson et al. (1997) made the prenatal diagnosis of KTW syndrome complicated by early fetal congestive heart failure. The postnatal course was complicated by Kasabach-Merritt syndrome of thrombocytopenia due to platelet consumption within the hemangioma. Neonatal cardiopulmonary resuscitation and limb amputation were required. 30 MEDLINE Neighbors

Berry et al. (1998) reviewed 49 cases of KTS. All were sporadic. They speculated that the disorder may be due to a somatic mutation for a factor critical to vasculogenesis and angiogenesis in embryonic development.

Lorda-Sanchez et al. (1998) presented an epidemiologic analysis of a consecutive series of cases of KTW syndrome identified in the Spanish Collaborative Study of Congenital Malformations. They found an increase in parental age and in the number of pregnancies, as well as familial occurrence of hemangiomas. These observations suggested a genetic contribution to the occurrence of KTW syndrome. Although the effect of increased paternal age on the origin of spontaneous germline mutations is well documented for dominant conditions, sporadic conditions that are presumably caused by somatic mosaicism are not supposed to show advanced parental age. The increased parental age would be consistent with the model of paradominant inheritance. Epidemiologic studies of retinoblastoma, a classic example of the 2-hit model of Knudson, have shown an association of older parental age with the first mutation event in germinal cells in sporadic hereditary retinoblastoma (DerKinderen et al., 1990) but no evidence for risk factors related to the second somatic mutation (Matsunaga et al., 1990). 30 MEDLINE Neighbors

Sperandeo et al. (2000) described a family in which 1 first cousin had KTW syndrome and the other had Beckwith-Wiedemann syndrome (BWS; 130650). The probands, sons of 2 sisters, showed relaxation of the maternal IGF2 (147470) imprinting, although they inherited different 11p15.5 alleles from their mothers and did not show any chromosome rearrangement. The patient with BWS also displayed hypomethylation of KvDMR1, a maternally methylated CpG island within an intron of the KvLQT1 gene (607542). The unaffected brother of the BWS proband shared the same maternal and paternal 11p15.5 haplotype with his brother, but the KvDMR1 locus was normally methylated. Methylation of the H19 gene (103280) was normal in both the BWS and KTW syndrome probands. Linkage between the IGF2 receptor gene (IGF2R; 147280) and the tissue overgrowth was excluded. These results raised the possibility that a defective modifier or regulatory gene unlinked to 11p15.5 caused a spectrum of epigenetic alterations in the germline or early development of both cousins, ranging from the relaxation of IGF2 imprinting in the KTW syndrome proband to disruption of both the imprinted expression of IGF2 and the imprinted methylation of KvDMR1 in the BWS proband. The data indicated that loss of IGF2 imprinting is not necessarily linked to alteration of methylation at the KvDMR1 or H19 loci and supports the notion that IGF2 overexpression is involved in the etiology of tissue hypertrophy observed in different overgrowth disorders, including KTW syndrome. 30 MEDLINE Neighbors

Cohen (2000) defined Klippel-Trenaunay syndrome and challenged 4 conceptions frequently found in the literature on this disorder. He considered it improper to add arteriovenous fistulas to the syndrome and on that basis to rename the disorder Klippel-Trenaunay-Weber syndrome. Although Parkes Weber syndrome (as Cohen called it) and Klippel-Trenaunay syndrome are similar, slow flow venous malformations are predominant in KTS, whereas arteriovenous fistulas are always found in Parkes Weber syndrome. Large series of patients with Parkes Weber syndrome were reported by Robertson (1956) and Young (1988). The involved limb is warm. The color of the cutaneous vascular malformation is usually more diffuse and pinker than that observed in KTS. Lymphatic malformations found in KTS do not occur in Parkes Weber syndrome. Cohen (2000) questioned that Sturge-Weber syndrome and KTS are the same disorder. Cohen (2000) considered the affected brother and sister described by Lindenauer (1965) as the only well-documented examples of KTS in a family. 30 MEDLINE Neighbors

The de novo translocation t(8;14)(q22.3;q13), reported by Timur et al. (2000) and Wang et al. (2001), points to a pair of chromosomes different from those focused on by Whelan et al. (1995) as the possible site of the Klippel-Trenaunay gene. Wang et al. (2001) used FISH to define the breakpoints on 8q22.3 and 14q13 in relation to specific markers and suggested that their study provided the basis for the fine mapping and ultimate cloning of a novel vascular gene at 8q22.3 or 14q13. 30 MEDLINE Neighbors

Tian et al. (2004) characterized the breakpoint of the translocation in a patient with Klippel-Trenaunay syndrome described by Whelan et al. (1995) and identified the VG5Q gene (608464). The chromosomal translocation results in increased expression of VG5Q in the translocation patient. They also identified 5 of 130 patients with Klippel-Trenaunay syndrome who were heterozygous for an E133K mutation (608464.0001), which also results in a gain of function. Tian et al. (2004) suggested that patients with the VG5Q E133K mutation may carry a second mutational hit in VG5Q or another gene within the affected tissues. 30 MEDLINE Neighbors

Timur et al. (2004) identified a de novo supernumerary ring chromosome in a patient with mild mental retardation, long tapering fingers, elongated and thin feet, and KTS. The ring marker chromosome was found to be mosaic, present in 24% of cells, and was shown to be derived from chromosome 18, r(18). FISH was used to define the breakpoints involved in formation of the r(18). The 18p breakpoint was located less than 10 cM from the centromere; the 18q breakpoint was located between the centromere and BAC clone 666n19 (GenBank AC036178), representing a region of less than 40 kb. The data suggested that the r(18) mostly originated from 18p, with an estimated size of less than 10 cM. 30 MEDLINE Neighbors


Brooksaler (1966); Furukawa et al. (1970); Koch (1956); Servelle (1985); Viljoen et al. (1987)


1. Aelvoet, G. E.; Jorens, P. G.; Roelen, L. M. :
Genetic aspects of the Klippel-Trenaunay syndrome. Brit. J. Derm. 126: 603-607, 1992.
PubMed ID : 1319193
2. Berry, S. A.; Peterson, C.; Mize, W.; Bloom, K.; Zachary, C.; Blasco, P.; Hunter, D. :
Klippel-Trenaunay syndrome. Am. J. Med. Genet. 79: 319-326, 1998.
PubMed ID : 9781914
3. Brooksaler, F. :
The angioosteohypertrophy syndrome (Klippel-Trenaunay-Weber syndrome). Am. J. Dis. Child. 112: 161-164, 1966.
PubMed ID : 5943999
4. Campistol, J. M.; Agusti, C.; Torras, A.; Campo, E.; Abad, C.; Revert, L. :
Renal hemangioma and renal artery aneurysm in the Klippel-Trenaunay syndrome. J. Urol. 140: 134-136, 1988.
PubMed ID : 2837586
5. Ceballos-Quintal, J. M.; Pinto-Escalante, D.; Castillo-Zapata, I. :
A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. Am. J. Med. Genet. 63: 426-427, 1996.
PubMed ID : 8737646
6. Christenson, L.; Yankowitz, J.; Robinson, R. :
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome as a cause for in utero heart failure and severe postnatal sequelae. Prenatal Diag. 17: 1176-1180, 1997.
PubMed ID : 9467816
7. Cohen, M. M., Jr. :
Klippel-Trenaunay syndrome. (Editorial) Am. J. Med. Genet. 93: 171-175, 2000.
PubMed ID : 10925375
8. DerKinderen, D. J.; Koten, J. W.; Tan, K. E. W. P.; Beemer, F. A.; Van Romunde, L. K. J.; Den Otter, W. :
Parental age in sporadic hereditary retinoblastoma. Am. J. Ophthal. 110: 605-609, 1990.
PubMed ID : 2248323
9. Furukawa, T.; Igata, A.; Toyokura, Y.; Ikeda, S. :
Sturge-Weber and Klippel-Trenaunay syndrome with nevus of Ota and Ito. Arch. Derm. 102: 640-645, 1970.
PubMed ID : 5501905
10. Happle, R. :
Klippel-Trenaunay syndrome: is it a paradominant trait? (Letter) Brit. J. Derm. 128: 465 only, 1993.
PubMed ID : 8388238
11. Harper, P. S. :
Sturge-Weber syndrome with Klippel-Trenaunay-Weber syndrome. Birth Defects Orig. Art. Ser. VII(8): 314-317, 1971.
12. Klippel, M.; Trenaunay, P. :
Du naevus variqueux osteo-hypertrophique. Arch. Gen. Med. 185: 641-672, 1900.
13. Koch, G. :
Zur Klinik, Symptomatologie, Pathogenese und Erbpathologie des Klippel-Trenaunay-Weberschen syndroms. Acta Genet. Med. Gemellol. 5: 326-370, 1956.
14. Lawlor, F.; Charles-Holmes, S. :
Uterine haemangioma in Klippel-Trenaunay-Weber syndrome. J. Roy. Soc. Med. 81: 665-666, 1988.
15. Lindenauer, S. M. :
The Klippel-Trenaunay syndrome: varicosity, hypertrophy and hemangioma with no arteriovenous fistula. Ann. Surg. 162: 303-314, 1965.
PubMed ID : 14327016
16. Lindenauer, S. M. :
The Klippel-Trenaunay-Weber syndrome: varicosity, hypertrophy and hemangioma with no arteriovenous fistula. Ann. Surg. 162: 303-314, 1965.
PubMed ID : 14327016
17. Lorda-Sanchez, I.; Prieto, L.; Rodriguez-Pinilla, E.; Martinez-Frias, M. L. :
Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome. Ann. Hum. Genet. 62: 235-239, 1998.
PubMed ID : 9803268
18. Matsunaga, E.; Minoda, K.; Sasaki, M. S. :
Parental age and seasonal variation in the births of children with sporadic retinoblastoma: a mutation-epidemiologic study. Hum. Genet. 84: 155-158, 1990.
PubMed ID : 2298450
19. Mor, Z.; Schreyer, P.; Wainraub, Z.; Hayman, E.; Caspi, E. :
Nonimmune hydrops fetalis associated with angioosteohypertrophy (Klippel-Trenaunay) syndrome. Am. J. Obstet. Gynec. 159: 1185-1186, 1988.
PubMed ID : 2847530
20. Muluk, S. C.; Ginns, L. C.; Semigran, M. J.; Kaufman, J. A.; Gertler, J. P. :
Klippel-Trenaunay syndrome with multiple pulmonary emboli: an unusual cause of progressive pulmonary dysfunction. J. Vasc. Surg. 21: 686-690, 1995.
PubMed ID : 7707572
21. Robertson, D. J. :
Congenital arteriovenous fistulae of the extremities. Ann. Roy. Coll. Surg. Eng. 18: 73-98, 1956.
PubMed ID : 13292864
22. Samuel, M.; Spitz, L. :
Klippel-Trenaunay syndrome: clinical features, complications and management in children. Brit. J. Surg. 82: 757-761, 1995.
PubMed ID : 7542989
23. Servelle, M. :
Klippel and Trenaunay's syndrome: 768 operated cases. Ann. Surg. 201: 365-373, 1985.
PubMed ID : 2983626
24. Sperandeo, M. P.; Ungaro, P.; Vernucci, M.; Pedone, P. V.; Cerrato, F.; Perone, L.; Casola, S.; Cubellis, M. V.; Bruni, C. B.; Andria, G.; Sebastio, G.; Riccio, A. :
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes. Am. J. Hum. Genet. 66: 841-847, 2000.
PubMed ID : 10712200
25. Tian, X.-L.; Kadaba, R.; You, S.-A.; Liu, M.; Timur, A. A.; Yang, L.; Chen, Q.; Szafranski, P.; Rao, S.; Wu, L.; Housman, D. E.; DiCorleto, P. E.; Driscoll, D. J.; Borrow, J.; Wang, Q. :
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 427: 640-645, 2004.
PubMed ID : 14961121
26. Timur, A. A.; Driscoll, D. J.; Wang, Q. :
A de novo translocation, t(8;14)(q22.3;q13), associated with Klippel-Trenaunay syndrome (KTS). (Abstract) Am. J. Hum. Genet. 67 (Suppl. 2): A2115, 2000.
27. Timur, A. A.; Sadgephour, A.; Graf, M.; Schwartz, S.; Libby, E. D.; Driscoll, D. J.; Wang, Q. :
Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. Ann. Hum. Genet. 68: 353-361, 2004.
PubMed ID : 15225160
28. Viljoen, D.; Saxe, N.; Pearn, J.; Beighton, P. :
The cutaneous manifestations of the Klippel-Trenaunay-Weber syndrome. Clin. Exp. Derm. 12: 12-17, 1987.
PubMed ID : 2820629
29. Viljoen, D. L. :
Klippel-Trenaunay-Weber syndrome (angio-osteohypertrophy syndrome). J. Med. Genet. 25: 250-252, 1988.
PubMed ID : 2835482
30. Waardenburg, P. J. :
Hypertrophic haemangiectasia (Klippel-Trenaunay-Weber's syndrome).In: Genetics and Ophthalmology. Vol. 2. : :Springfield, Ill.: Charles C Thomas (pub.) 1963. Pp. 1381-1386.
31. Wang, Q.; Timur, A. A.; Szafranski, P.; Sadgephour, A.; Jurecic, V.; Cowell, J.; Baldini, A.; Driscoll, D. J. :
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. 95: 183-188, 2001.
PubMed ID : 12063397
32. Weber, F. P. :
Angioma formation in connection with hypertrophy of limbs and hemihypertrophy. Brit. J. Derm. 19: 231-235, 1907.
33. Whelan, A. J.; Watson, M. S.; Porter, F. D.; Steiner, R. D. :
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Am. J. Med. Genet. 59: 492-494, 1995.
PubMed ID : 8585570
34. Young, A. E. :
Combined vascular malformations.In: Mulliken, J. B.; Young, A. E. (eds.) : Vascular Birthmarks. Hemangiomas and Malformations. Philadelphia: W.B. Saunders 1988. Pp. 246-274.


Victor A. McKusick - updated : 10/20/2004
Ada Hamosh - updated : 2/12/2004
Victor A. McKusick - updated : 8/26/2002
Victor A. McKusick - updated : 9/5/2001
Victor A. McKusick - updated : 8/17/2000
Victor A. McKusick - updated : 4/10/2000
Victor A. McKusick - updated : 2/16/1999
Victor A. McKusick - updated : 10/28/1998
Victor A. McKusick - updated : 7/7/1998


Victor A. McKusick : 6/2/1986


tkritzer : 10/21/2004
terry : 10/20/2004
alopez : 2/13/2004
terry : 2/12/2004


Exudative enteropathy in Klippel-Trenaunay syndrome

Cooreman M, Lubke H, Wienbeck M, Strohmeyer G.

Medizinische Klinik und Poliklinik, Abteilung Gastroenterologie, Universitat Dusseldorf.

The triad of the Klippel-Trenaunay Syndrome consists of varicose veins, "port-wine" haemangioma of the skin and bone and soft-tissue hypertrophy with a different extension. Often an obstruction of lymphatic vessels and lymphoedema accompany the syndrome. We observed for the first time a patient with an impressive Klippel-Trenaunay-Syndrome in combination with a symptomatic exudative enteropathy. In spite of a regular intravenous protein substitution for many years, this patient had developed a monstrous elephantiasis of the lower extremities. A lymphography demonstrated a blockade of the lymph flow at the height of the middle paraaortic lymph nodes. The cysterna chyli and the Ductus thoracicus were not visualised. The measurement of 51Cr-labelled albumin excretion in the stool for two days after the intravenous injection of 3.07 MBq 51Cr showed an excretion of 17.9% of the total dose, which means an elevated gastrointestinal protein-loss. However, intestinal lymphangiectasia was not seen on histologic examination of bioptic material of duodenal and jejunal mucosa. These results show that the Klippel-Trenaunay Syndrome may be accompanied by a protein-loosing enteropathy due to obstruction of the gastrointestinal lymph flow. As the intestinal lymphangiectasia may occur locally, it is not always demonstrable directly on pathologic examination of biopsies


Klippel and Trenaunay's syndrome. 768 operated cases.

Servelle M.

Since 1945, we have operated on 786 patients with Klippel and Trenaunay's syndrome. Elongation of the impaired limb was invariably found while edema was present in 84%, varicose veins in 36%, and flat angiomata in 32%. Venography and surgical exploration have demonstrated malformation of the deep veins involving the popliteal vein in 51%; superficial femoral vein, 16%; both popliteal and superficial femoral veins; 29%; iliac veins, three per cent; and lower vena cava, one per cent. Good clinical results have been achieved following the surgical release of these deep veins in the lower limb. During childhood, when the difference in limb length is noteworthy, ligature of the popliteal vein of the shorter limb induces a compensating elongation. Klippel and Trenaunay's syndrome may be associated with lymphatic malformations, including lymphedema and malformation of the lymph vessels. Knowledge of the pathophysiology of these malformations of the deep veins enables a better understanding of the clinical manifestations of the condition, as well as the improved treatment of the serious vesical or rectal hemorrhage which occurs in one per cent of these patients.


Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P.
Mayo Clin Proc 1998; 73:28-36
Dr. Ermenegildo A. Enrici
Dr. Cristobal Papendieck
Argentine Catholic University
Buenos Aires, Argentina

This paper by Dr. Gloviczki and colleagues presents an exhaustive 40-year summary of the Klippel-Trenaunay syndrome at the Mayo Clinic Rochester. The statistical analysis of the 252 cases allows an accurate evaluation of the frequency of the elements of the affliction - that is, capillary malformations, atypical varicosities, and limb osteohypertrophy.

In this study group, there were 116 males (46%) and 136 females (54%). The age of diagnosis ranged from birth to 83.4 years with a median of 11.9 years. Ninety-one percent of the 252 individuals with the syndrome had evidence of this at birth. Of these patients, 159 (63%) had all three features of the syndrome, 93 (37%) had two of the three features, the capillary malformations were found in 246 patients (98%), varicosities or venous malformations were found in 182 (72%) and limb hypertrophy was found in 170 (67%). The atypical lateral vein, or persistent sciatic vein, was found to be present in 182 (72%). The authors point out the lack of family history in this condition. However, in 74 patients (29%), concomitant congenital defects were found. The most common of these was developmental dysplasia of the hip (10 patients), and syndactyly (10 patients). One patient had a coexisting Sturge-Weber syndrome and another had neurofibromatosis. Seventy percent of the patients (177) had involvement only in the lower extremity and 11% (28) had only upper extremity involvement. Additionally, venous thromboembolism was present in a number of patients. Eleven (4%) had deep venous thrombosis and 9 (4%) had pulmonary embolization, and this was fatal in one patient.

In managing these patients, 54 (21%) had no treatment. The other patients had nonoperative or surgical treatment or both. Nonoperative therapy consisted of elastic support or heel lift as well as antibiotics for cellulitis and symptomatic support for those 11 patients who had rectal bleeding or hematuria. A total of 145 patients with this syndrome had a surgical procedure done. In general, operations on varicose veins or venous malformations decreased symptoms, but these recurred later. Attempted excision of the angioma was done in 44 patients, epiphysiodesis was done in 41, with a debulking procedure in 11. Some patients did poorly after surgical procedures. The complications observed included massive lymphedema, nonhealing wound after debulking done elsewhere, and limb swelling after removal of varicose veins in a patient with an atretic superficial femoral vein.


While the cause of Klippel-Trenaunay syndrome remains obscure, we know that three possibilities exist in its classification: 1) Klippel-Trenaunay-Servelle syndrome where patients have lesions of the deep venous system (hypoplasias, fetal thrombosis, fibrous constricting bands) without precapillary fistulae or macrofistulae. Limb lengthening is dyscoordinate and there is persistence of embryonic veins that act as supplementary circulating pathways. 2) Klippel-Trenaunay-Weber syndrome where the pathology is due to the existence of precapillary microfistulae which create deep venous hypertension thus increasing pCO2 which is a stimulus for limb overgrowth, phlebectasias, and varicose veins with passage of time. 3) Parkes-Weber syndrome which is due to arteriovenous microfistulae. In the Mayo Clinic experience, there was a single proven case that is not integrated to the statistical analysis. However, in another series discussed in this paper, 13% of the patients experienced congestive heart failure. This should suggest a Parkes-Weber syndrome rather than Klippel-Trenaunay syndrome.

A variety of diagnostic methods were used in this experience. Microfistulae were not demonstrable either clinically or in contrast studies. The persistence of embryonic veins (sciatic) was confirmed by this study. Other venous alterations such as varicose veins may be caused by reflux, or those that appear late may be caused by venous hypertension.

Many diverse complications are discussed in this paper. We would include von Willebrand disease among the hemorrhagic complications as it is stated in the experience that this occurs in 20% of cases. As discussed, evaluation of treatment clearly indicates that medical therapy is the treatment of choice and that surgical intervention is treatment of necessity. This is a fact with which there is general agreement.

To the wide range of operations listed in this paper, we would add venous banding to compensate growth of the shortest limb in accordance with the chart of Moseley. The growth of the femur, tibia, and possibly the radioulnar bone might be modified with the method of Ilizarov. The longest limb overgrowth, of course, is treated with metaphyseal staples.

The Candela laser and the PhotoDerm laser are used currently in the treatment of capillary angiomas but require multiple interventions. ivfdenr


Klippel-Trenaunay syndrome.

Capraro PA, Fisher J, Hammond DC, Grossman JA.

Clinic for Plastic Surgery, Easton Hospital, Denver, CO 80220, USA.

The association of three physical findings including capillary malformation, varicosities, and hypertrophy of bony and soft tissues corresponds to Klippel-Trenaunay syndrome. This triad of findings, described by the two French physicians Klippel and Trenaunay in 1900, differs from Parkes-Weber syndrome, in that Klippel-Trenaunay syndrome does not incorporate significant hemodynamic arteriovenous fistulas. Generally, management of this disease process should be individualized. Surgery should be considered in cases where skin ulcerations lead to persisting and recurrent bleeding, or where digital deformities lead to functional disabilities or where significant limb overgrowth leads to both functional and psychological impairment. Persistent hematochezia, hematuria, and vaginal and esophageal bleeding are considered indications for surgical intervention. Recurrent attacks of thrombophlebitis and cellulitis are treated medically with antiinflammatory agents and antibiotics. Otherwise, management of this syndrome is generally conservative, consisting of psychological encouragement, reassurance, and the continued use of graduated compressive stockings for varicosities and intermittent pneumatic compression pumps for lymphatic edema.

Publication Types:

PMID: 11994613 [PubMed - indexed for MEDLINE]


Klippel-Trenaunay-Weber Syndrome


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Klippel - Trenaunay - Weber Syndrome (1)

Ming H Jih MD PhD

Dermatology Online Journal 9(4): 31

From the Ronald O. Perelman Department of Dermatology, New York University


Parkes Weber Syndrome

This rare fast-flow combined vascular malformation usually involves a lower limb, and it is usually associated with a geographic stain over the enlarged limb. Symptoms include cutaneous warmth and a bruit or thrill on clinical examination, all of which are more suggestive of a complex vascular malformation than a simple CM. MRIs and MRAs show enlarged extremity muscles and bones with an abnormal signal intensity and contrast enhancement pattern; they also show generalized arterial and venous dilatation in the involved extremity


Alternative titles; symbols PKWSGene map locus 5q13.3


A number sign (#) is used with this entry because of evidence that Parkes Weber syndrome in some instances is due to mutations in the gene that encodes p120-Ras GTPase-activating protein (RASA1; 139150).


Parkes Weber syndrome is characterized by a cutaneous flush with underlying multiple micro-AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988).


Six families reported by Eerola et al. (2003) manifested atypical capillary malformations (163000) associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. They named this association CM-AVM for 'capillary malformation-arteriovenous malformation' (608354) and found mutation in the RASA1 gene (139150) in affected members of these families. 30 MEDLINE Neighbors


This syndrome was described by the same F. Parkes Weber (1863-1962) whose name is also attached to hereditary hemorrhagic telangiectasia (187300), Sturge-Weber syndrome (185300), Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome (149000).


1. Eerola, I.; Boon, L. M.; Mulliken, J. B.; Burrows, P. E.; Dompmartin, A.; Watanabe, S.; Vanwijck, R.; Vikkula, M. :
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am. J. Hum. Genet. 73: 1240-1249, 2003.
PubMed ID : 14639529
2. Mulliken, J. B.; Young, A. E. (eds.) :
Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co. , 1988.

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