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- Trenaunay Syndrome
is a congenital vascular disorder of unknown cause.
Klippel-Trenaunay (KTS) is characterized by a triad
of signs: Port Wine Stain (capillary malformations)
covering one or more limbs, vascular anomalies, usually
venous varicosities or malformation and hypertrophy
(enlargement of the limb) or atrophy (withering or smaller
limb). KT involves the lower limbs in about 90% of the
patients. In rare instances, there is an absence of
Port Wine Stain and not all three abnormalities need
always be present for the syndrome to exist. Each case
of KT is different, with patients having varying abnormalities
and severity. Other associations with KT can include
internal organ involvement, hematuria (blood in the
urine) rectal bleeding and vaginal bleeding. Bleeding
from an abnormal lesion on the affected limb is also
common. Patients may have symptoms including anemia,
coagulation problems (blood clots) and platelet trapping
in the affected limb. (from the Sturge-Weber Foundation
Klippel-Trénaunay Syndrome is a rare congenital (present at birth) disorder,
it is the most common condition involving
combined vascular malformations. The syndrome is characterized by a
localized or diffuse
capillary malformation (portwine stain) that overlies a
venous malformation and/or
lymphatic malformation with associated soft tissue and bone hypertrophy
(excessive growth). The portwine stain is typically substantial, varicose
veins are often quite numerous, and bone and soft tissue hypertrophy is
variable. The affected limb is either larger or smaller than the unaffected
limb. Hypertrophy occurs most commonly in the lower limbs, but may affect
the arms, the face, the head or internal organs. Additionally, a wide range
of other skeletal and skin abnormalities sometimes coexists.
enlargement is usually not present at birth, but may appear within the first
few months or years of life and may become particularly problematic during
puberty. The affected area grows longer and thicker due to increased blood
supply. Sometime after puberty and before age 30, the portwine stain
develops small vesicles (blood-filled bubble-like lesions) that can bleed
To view more photos of KTS, visit:
What symptoms are
associated with Klippel-Trénaunay Syndrome?
vary according to the severity of the dominant vascular component and its
location. If lymphatic malformations are dominant, soft tissue swelling and
enlargement will occur. If venous malformations are dominant, episodes of
painful thrombosis (clotting) will occur. This group of patients often
experiences muscle cramping or joint pain when walking. When the lower
gastrointestinal tract (intestines) is involved, rectal bleeding often
occurs. When there is bladder involvement, blood is often seen in the urine.
type of Klippel-Trénaunay Syndrome, which is known as the Parkes-Weber
variant, patients have arteriovenous fistulae (multiple arteriovenous
connections), which can result in heart failure if untreated.
Klippel-Trénaunay Syndrome diagnosed?
patients, a thorough medical history and physical examination are sufficient
to make the diagnosis. However, a number of imaging studies are useful when
there are complications. Evaluation of the deep venous system can be done by
Doppler ultrasonography (type of ultrasonography in which blood vessels are
seen) and magnetic resonance imaging (MRI) studies.
MRI is also helpful in imaging the soft tissue hypertrophy. Angiography is
especially helpful in the diagnosis of arteriovenous fistulae that are seen
in the Parkes-Weber variant of Klippel-Trénaunay Syndrome.
clinical and radiologic assessment of the affected limb should be done at
regular intervals to assess limb length discrepancy and to formulate an
approach for prevention and treatment of overgrowth. For lower-limb
overgrowth beyond a 2-centimeter (bit less than 1 inch) differential,
orthopaedic intervention may be necessary.
What are the possible
complications of Klippel-Trénaunay Syndrome?
Complications of the capillary malformation include skin breakdown and
ulceration, bleeding and secondary infection. If the lesion extends deeper
in tissue, internal organs such as the pleura (sacs which envelop the
lungs), spleen, liver, bladder and colon may also be affected. When this
happens, internal bleeding can occur.
Varicosities may affect the superficial and deep venous systems. Pain and
lymphedema (swelling of extremities due to stoppage of lymph flow caused
by malformed lymphatic vessels) are common. Complications due to
varicosities include paresthesias (abnormal skin sensations such as burning
or tingling), skin ulcers, pulmonary emboli (blood clots in the lungs),
inflammation and clots of blood vessels in the legs, and cellulitis (skin
and soft tissue infection).
Hypertrophy of a limb can lead to vertebral scoliosis, gait abnormalities
and compromise of function.
Klippel-Trénaunay Syndrome managed?
Management of Klippel-Trénaunay Syndrome is dependent upon individual
symptoms. Although both nonoperative and surgical approaches are used,
treatment is primarily nonoperative and supportive.
Compression therapy. Compression garments are often advised for
chronic venous insufficiency, lymphedema, recurrent cellulitis and
recurrent bleeding from capillary or venous malformations of the
extremity. They also protect the limb from trauma. Intermittent pneumatic
compression pumps may also provide benefit.
- Pain medication,
antibiotics, and limb elevation. These treatments are all used to
therapy (the use of substances that prevent blood clotting). This
approach is indicated in cases of acute thrombosis (clotting) and is also
used as a preventive measure prior to surgical procedures.
- Heel inserts.
These are sometimes used to manage limb length discrepancies that are less
than 1 inch. For greater discrepancies, orthopaedic surgery may be
Surgery. Depending on individual circumstances and anatomical
involvement, a number of surgical options are occasionally advised. These
include vein ligation, vein stripping, vein resection, and in rare cases,
amputation. Vein ligation is a procedure that clamps off a section of
veins. The clamp prevents blood flow through the damaged section of veins
and promotes blood flow through veins that are not damaged. Vein stripping
uses a metal wire to remove varicosities from within the damaged vein.
Vein resection is a procedure that removes a section of veins from the
body. Amputation is a procedure that removes a portion or all of a limb.
information above is from:
following is from the The Klippel-Trenaunay
Syndrome Support Group Web Site
"Moodie, D., Driscoll, D., Salvatore, D., Peripheral
Vascular Disease in
Children, In:Young, J., Olin, J., Bartholomew, J., Peripheral
Diseases, 2nd Edition, Mosby Yearbook Publishers, 1996,
Syndrome (KTS) consists of a triad of cutaneous capillary
hemangioma, bone and soft tissue hypertrophy, and venous
varicosities (1). The etiology of KTS is unknown but
some authors have suggested that it results from a mesodermal
abnormality that occurs during fetal development leading
to the maintenance of microscopic arteriovenous communications
in the limb bud (2). Most commonly it is a sporadic
event. Although there have been a few cases reported
in which more than one family member supposedly had
the syndrome other authors suggest that this may have
not been the case (3,4). It has been suggested that
KTS could result from the action of a mosaic gene abnormality
that is lethal to the gamete when present in all cells
of the embryo (5). We have seen two patients with intriguing
associations. One patient has prolonged QT interval
syndrome and the other a translocation of chromosome
8 and 14. Whether these are coincidental abnormalities
or provide a clue to the location of a causative gene
should be distinguished from Parks-Weber Syndrome. In
Parks-Weber Syndrome there are clinically apparent and
important arteriovenous fistulae where as in KTS any
arteriovenous fistulae that exist are microscopic in
size and unassociated with the typical clinical findings
of arteriovenous fistulae. The natural history of these
syndromes are different. For example, because patients
with KTS do not have arteriovenous fistulae, high output
cardiac failure does not occur.
manifestations of KTS are variable (fig 1-3). In a study
of 144patients evaluated at the Mayo clinic (6), 132
had lower extremity involvement, 37 had upper extremity
involvement, 21 had pelvic and abdominal involvement,
25 had involvement of the thorax and 7 had head and
neck involvement(Table 1). In the same study 110(76%)
had varicosities, 137(95%) had hemangiomas, and 134
(93%) had limb hypertrophy...
occasional exceptions, the appearance of the baby shortly
after birth will define the ultimate appearance of the
child and young adult. The exceptions to this include:
a) the cutaneous capillary hemangioma (port wine stain)
may become lighter or darker; b) dark small nodular
escrescence may develop on the skin; c) as growth occurs
the limb length discrepancy may increase; d) some of
the apparent increased mass may regress as baby fat
regresses; e) subcutaneous masses may appear; and f)
venous varicosities and, possibly dependent lymphedema
will become more prominent with time. Parents should
be reassured, however, that unaffected extremities and
organs will not become affected the future.
VENOUS VARICOSITIES AND MALFORMATIONS
venous involvement in KTS can range from subtle abnormalities
to massive varicosities and absence of important deep
venous structures. The venous abnormalities usually
involve the affected extremity and are apparent as superficial
varicose veins. Dilation of superficial varicose veins
may be unapparent in infancy but become apparent with
increasing age. Not all patients with KTS have superficial
addition to superficial varicosities, many patients
have abnormalities of the deep venous system of the
extremity. The deep venous abnormalities can include
dilation of the deep veins, absent venous valves, hypoplasia
of the veins, and complete absence of the deep venous
system. It is critically important to ascertain the
status of the deep venous system if one is considering
removal of superficial varicosities since the superficial
venous system cannot be removed if the deep venous system
is inadequate to provide venous drainage of the extremity.
Because of the venous malformations some patients with
KTS can develop thrombophlebitis.
varicosities also can involve intraabdominal and intrapelvic
organs. In Gloviczki's series, 10% of the patients manifest
rectal bleeding and 3% had hematuria (6). Others have
reported that 20% of their patients have had rectal
bleeding, 10% had hematuria and 33% had evidence of
abnormal intrapelvic veins(7). Venous or arteriovenous
malformations have been described in other locations
in rare patients with KTS. These include bone, spinal
and intracranial locations.
addition to the complete absence of the deep venous
system of an extremity, absence of the inferior vena
cava has been reported (8) and we have observed absence
of the internal jugular veins.
patients with KTS have abnormalities of the lymphatic
system. Since in no series of patients have these abnormalities
been looked for in a systematic fashion the incidence
of lymphatic abnormalities is unknown. In one series
it was reported that 20% of patients have cutaneous
vesicles which leak lymph. However in our experience
exudation of lymph is less common. It frequently is
unclear if the edema of an affected dependent extremity
is a result of venous insufficiency, abnormal lymphatic
drainage or a combination of the two. Some patients
do develop soft tissue masses that are reminiscent of
cystic hygromas. These masses can occur on an effected
extremity or over the trunk, head, or neck
HEMANGIOMAS AND OTHER CUTANEOUS LESIONS
is a broad spectrum of cutaneous manifestations of KTS.
Most commonly there is a port wine stain which can be
very light in color to deep maroon. This lesion can
be flat or elevated. The integrity of the skin over
the hemangioma may be excellent or poor. In some cases
the capillary hemangioma is raised considerably from
the surface and may be verrucous in nature. Some areas
of the malformation may be prone to skin breakdown,
bleeding, and infection. In general the intensity of
the color of the hemangioma lessens as the child ages.
However, some patients develop dark (deep blue to black)
1-2 mm nodules on top of the hemangioma or, at times,
over seemingly unaffected portions of skin. These can
be quite friable and prone to spontaneous bleeding or
bleeding after minor trauma. Cutaneous or subcutaneous
cavernous hemangiomas occur in 40% of patients(1). These
can produce a spongy feel to the skin and frequently
are associated with lymphangiomas
Other cutaneous manifestations of KTS include phlebectasias,
hyperhidrosis, hyperthermia and hypertrichosis. Patients
with KTS are prone to cellulitis. It is unclear if these
episodes are always secondary to bacterial infection
or to a local inflammatory response in response to pockets
of lymph accumulation.
AND SOFT TISSUE HYPERTROPHY
Gloviczki's series, 95 of 144 patients had one extremity
longer than the other and 100 of 144 patients had a
swollen or circumferentially enlarged extremity (6).
Most commonly a lower extremity is affected but in a
forth of the patients an upper extremity is involved.
Usually the longer, bigger extremity is also the extremity
that exhibits the skin and vascular changes but occasionally
the extremity with skin and vascular involvement is
the shorter or smaller extremity. The bony hypertrophy
may effect all the bones in an extremity or be limited
to one or two bones. Some patients may have macrodactaly.
In addition to bony hypertrophy, many patients have
soft tissue hypertrophy. This can be quite limited;
for example to a localized mass on the back or chest,
or can be quite widespread; for example involving an
entire arm or leg. The soft tissue hypertrophy is usually
fatty and contains variable amounts of venous structures.
Other limb findings that have been described in KTS
include syndactyly, clinodactyly, polydactyly, split
hand deformity, metatarsal and phalangeal agenesis,
osteolysis, congenital dislocation of the hip, and peripheral
CENTRAL NERVOUS SYSTEM AND EYE INVOLVEMENT
with KTS can have macrocephaly and, less frequently,
microcephaly. Intracranial angiomas, arteriovenous malformations,
and intraspinal angiomas have been described. More than
40 cases of KTS have been described in association with
Ophthalmologic findings reported in association with
KTS include: conjunctival telangiectasia, retinal varicosities,
choroidal angioma, glaucoma, coloboma iridis, heterochromia
iridis, intraorbital varix, and enophthalmos(1,10).
FINDINGS AND PROBLEMS
patients with KTS exhibit evidence of an intravascular
coagulopathy. This usually is mild but in some patients
can be relatively severe and result in bleeding after
minor trauma or major bleeding associated with surgical
procedures. This coagulopathy probably represents a
form of Kasabach-Merritt syndrome and may be manifest
by thrombocytopenia, reduced fibrinogen, and the presence
of fibrin split products(11). It is prudent to assess
patients' coagulation status prior to planned surgical
have been several instances of fatal and nonfatal pulmonary
emboli in patients with KTS. It is unclear at this point,
which patients with KTS are at risk for this complication.
Some episodes have been associated with bed rest following
a surgical procedure. One author has recommended that
patients with KTS receive anticoagulation therapy when
admitted to a hospital or, long-term anticoagulation
therapy for those who have had a documented thrombotic
with large venous capacitance in the legs can be prone
to lightheadedness and syncope when standing.
patients with lower extremity involvement experience
some degree of lower extremity edema. This usually is
not manifest until after the child begins walking and
gravitational forces become a factor. It is important
to remember that an extremity may be enlarged because
of increased bony and soft tissue mass as well as edema.
Compression of the extremity with elastic support will
acutely lessen the edema but there is no data that chronic
compressive therapy will result ultimately in less bony
or soft tissue mass. Also, compression will not affect
the ultimate length of the leg. Patients with a major
component of lymphedema and those with severe venous
insufficiency seem to derive the most benefit from chronic
compressive therapy. Compressive therapy also should
be used for patients with edema and recurrent cellulitis.
It may reduce the frequency of episodes of cellulitis.
Compression may or may not be useful for patients with
friable skin lesions that tend to bleed. In some cases
the compression garment will protect the sites and lessen
the bleeding but in other cases, the garment may irritate
the skin and increase the bleeding episodes. Compression
therapy may slow the progression of lower extremity
varicose veins. Compression therapy also is useful for
patients with upper extremity involvement who have problems
We do not favor compression therapy for young children.
In general young children will not tolerate wearing
a compression garment, they will rapidly outgrow the
garment and the parents will just become frustrated.
In general a compression garment should extend from
the tip of the toes to well above the involved site.
OF VARICOSE VEINS
or painful superficial varicose veins can be removed
in selected patients. It is critical that the status
and integrity of the deep venous system be established
before superficial veins are removed. If the deep venous
system is inadequate, the superficial veins should not
Epiphysiodeses are done to
assure relatively equal leg lengths at full maturation. This procedure is necessary
only if the projected limb length discrepancy exceeds 2.0 cm. It is important
that this operation be done at the appropriate time. Parents need to be reassured
that the operation need not be done during early childhood. Most epiphysiodeses
are done between 10 and 14 years of age. For limb length discrepancies less that
2.0 cm, shoe lifts can be used.
Intentional destruction of growth plates also can be
done to control excessive growth of digits.
AND RAY RESECTION
of digits, and portions of an extremity should only
be undertaken to improve function of the extremity and
to manage otherwise uncontrollable infection or bleeding.
Many of these children manage to obtain excellent function
from an extremity that is quite enlarged and malformed.
An important dictum in managing these patients is to
operate to improve function rather than for cosmesis
and never to sacrifice function to obtain improved cosmesis.
Patients with discordant foot size may have difficulty
fitting the foot into a shoe. We have found that ray
resection is a very satisfactory procedure to reduce
excessive foot width
potential complications of debulking procedures should
be considered carefully before undertaking this type
of treatment. The potential drawbacks of debulking procedures
include: 1. the bulk can return, 2. the bulk is traded
for a scar, 3. the debulking procedure may interrupt
the venous and lymphatic drainage in an extremity with
compromised drainage to begin with , 4. wound infection,
and 5. poor skin healing with resultant chronic lymphatic
ooze. In general the more proximal on a extremity a
debulking procedure is considered , the greater are
the risks for interfering with venous and lymphatic
drainage. Conversely, debulking procedures on digits,
the hands, and feet are tolerated better than those
on more proximal locations. As noted above one must
always consider function above form when contemplating
surgical procedures for patients with KTS.
therapy can be used to reduce the discoloration of capillary
hemangiomas. Before embarking on this treatment it must
be remembered that the procedure is painful. Also frequently
it is the parent that opts to have the lesion treated
but it is the child who must undergo the discomfort.
It may preferable to wait until the child is old enough
to participate in the decision to have this treatment.
are used to treat cellulitis. For patients who have
recurrent cellulitis, maintaining the patient on prophylactic
antibiotics may be helpful.
bleeding can occur in patients with perirectal or pericolonic
varicose veins. Bleeding can range from minimal to life
threatening. As with all cases of GI bleeding the source
of bleeding needs to be defined. If the bleeding is
secondary to varicose veins and is not life threatening,
treatment should consist of stool softeners and iron
replacement. Surgery may be necessary to deal with massive
1. STICKLER, G. KLIPPEL-TRENAUNAY SYNDROME, IN NEUROCUTANEOUS
DISEASES, A PRACTICAL APPROACH GOMEZ, M.,ED ,
BUTTERWORTHS, BOSTON, 1987.
BASKERVILLE, P., ACKROYD, J., BROWSE, N., THE ETIOLOGY
OF THE KLIPPEL-
TRENAUNAY SYNDROME, ANNALS OF SURGERY,202:624-627,1985
AELVOET,G, JORENS, P., ROELEN, L., GENETIC ASPECTS OF
TRENAUNAY SYNDROME, BRITISH JOURNAL OF DERMATOLOGY,
JORGENSON, R., DARBY, B., PATTERSON, R., TRIMMER,K.,
DIAGNOSIS OF THE KLIPPEL-TRENAUNAY-WEBER SYNDROME, PRENATAL
HAPPLE, R., LETHAL HENES SURVIVING BY MOSAICISM: A POSSIBLE
EXPLANATION FOR SPORADIC BIRTH DEFECTS INVOLVING THE
OF THE AMERICAN ACADEMY OF DERMATOLOGY, 16:899- 906,1987.
GLOVICZKI, P., STANSON, A., STICKLER, G., JOHNSON, C.,
MELAND, N., ROOKE, T., CHERRY, K., KLIPPEL-TRENAUNAY
THE RISKS AND BENEFITS OF VASCULAR INTERVENTIONS, SURGERY,
KLIPPEL-TRENAUNAY SYNDROME IN DISEASES OF THE VEINS,
DIAGNOSIS AND TREATMENT, BROWSE, N., BURNAND, K., THOMAS,
ED, EDWARD ARNOLD, BALTIMORE, 1988
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SYNDROMES WITH ABSENCE OF INFERIOR VENA CAVA, ARCH DISEASE
CHILDHOOD(ENGLAND) 65:546-547, 1990.
DEUTSCH, J., WEISSENBACHER, G., ET AL, COMBINATION OF
OF STURGE-WEBER AND THE SYNDROME OF KLIPPELL-TRENAUNAY,
BROD, R., SHIELDS, J., SHIELDS, C., OBERKIRCHER, O.,
SABOL, L., UNUSUAL
RETINAL AND RENAL VASCULAR LESIONS IN THE KLIPPEL-TRENAUNAY-
WEBER SYNDROME, RETINA, 12:355-358, 1992
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1. Anatomic involvement in 144 patients with KTS
from Gloviczki et al, Ref #4)
Location n %
extremity 132 92
Unilateral 103 72
Right 53 37
Left 50 35
Bilateral 29 21
Lower extremity only 106 74
Lower and upper extremities 26 18
Upper extremity 37 26
Upper extremity only 11 8
Pelvis or abdomen 21 15
Thorax 25 17
Head and neck 7 5
2. Signs and symptoms in 144 patients with KTS
from Gloviczki et al, Ref #4)
Location n %
Atypical (lateral) 66 46
Suprapubic 2 1
Usual distribution 46 32
Hemangioma 137 95
Capillary 89 62
Lymphangioma 12 8
Limb Hypertrophy 134 93
Longer extremity 96 66
Swollen extremity 100 69
Pain 46 32
Cosmetic problem only 35 24
Bleeding from hemangioma 28 19
Thrombophlebitis 18 12
Cellulitis 13 9
Ulcers 11 8
Verrucae 9 6
Rectal Bleeding 14 10
Macroscopic hematuria 4 3
Paraparesis 4 3
Deep venous thrombosis 6 4
Pulmonary embolization 4