Académique Documents
Professionnel Documents
Culture Documents
C ombined Vascul ar
Malformations
Ann M. Kulungowski, MD, Steven J. Fishman, MD*
KEYWORDS
Capillary-arteriovenous fistula
Capillary-arteriovenous malformation
Capillary-lymphatico-venous malformation
CLOVES syndrome Klippel-Trenaunay syndrome
Parkes Weber syndrome
CAPILLARY-LYMPHATICO-VENOUS
MALFORMATION
The first reports of patients with a slow-flow
capillary-lymphatico-venous malformation (CLVM)
were published in the nineteenth century by
Hilaire, Trelat, and Monod.2,3 It was not until
1900 that this constellation of findings was considered more than mere coincidence. French physicians, Maurice Klippel and Paul Trenaunay,4
were the first to recognize Klippel-Trenaunay
syndrome as a distinct entity.5 They proposed
the main characteristics of the syndrome were
a localized vascular nevus, congenital or early
infantile varicosities, and hypertrophy of tissue
occurring in the same body part. They also
recognized the variability in the severity of symptoms. For more than 100 years, the well-worn
eponym, Klippel-Trenaunay syndrome, has been
used to describe patients with CLVM. It is
often incorrectly called Klippel-Trenaunay-Weber
syndrome suggesting a relation to Parkes Weber
syndrome, a fast-flow malformation consisting of
a capillary-arteriovenous malformation (CAVM) in
association with limb hypertrophy.6,7
Department of Surgery, Vascular Anomalies Center, Childrens Hospital Boston, Harvard Medical School, 300
Longwood Avenue, Boston, MA 02115, USA
* Corresponding author.
E-mail address: steven.fishman@childrens.harvard.edu
Clin Plastic Surg 38 (2011) 107120
doi:10.1016/j.cps.2010.08.009
0094-1298/11/$ e see front matter 2011 Elsevier Inc. All rights reserved.
plasticsurgery.theclinics.com
108
Clinical Features
CLVM is usually diagnosed at birth. The classic
presentation is an infant who presents with an
enlarged lower extremity with lateral capillary malformations (CMs), lymphatic vesicles, and visible
varicosities. CLVM can be suspected on antenatal
imaging due to the presence of an enlarged limb.
Severe cases are more likely to be detected antenatally. The diagnosis of CLVM cannot easily be
confirmed until delivery since congenital lymphedema, Parkes Weber, CLOVES, and Proteus
syndromes are included in the differential
diagnosis.
Morphologic variability is the norm in patients
with CLVM (Fig. 1). A single-center review of 252
patients documented involvement of the lower
extremity (88%), upper extremity (29%), and trunk
(23%).10 The deformity can range from barely
perceptible capillary staining with mild soft tissue
overgrowth to a grotesquely deformed limb. Soft
tissue and skeletal hypertrophy of the involved
limb predominate, but in 10% of patients, the
affected extremity may be short or hypotrophic.1
Because hemihypertrophy is often a component
of CLVM, many patients undergo ultrasonographic
screening for Wilms tumor. Patients with CLVM,
however, are not at increased risk for Wilms tumor
and do not require screening.11
Expansion of CLVM tends to be commensurate
with the growth of the child. The CMs are often
multiple, occurring predominantly on the lateral
side of the extremity, buttock, or thorax. The CM
Fig. 1. Morphologic variation of CLVM. (A) Unilateral lower extremity CLVM. (B) Bilateral lower extremity CLVM
with cutaneous lymphatic vesicles. (C) Unilateral CLVM with extension into the perineum and buttock. (D) Unilateral CLVM with minimal hypertrophy of the involved limb.
Imaging
We usually do not obtain baseline imaging in
asymptomatic infants with CLVM, especially in
the first 6 months of life. High-quality images
require anesthesia in young infants and children.
We prefer to delay imaging in infants unless there
is an urgent indication such as bladder outlet
obstruction, severe hematochezia, or surgical
planning.
Plain film radiography is used to evaluate bony
deformities and to follow limb length
Fig. 2. Lateral marginal vein. (A) CLVM with a prominent lateral marginal vein (arrows). (B) Ascending venogram
of a lower extremity (arrow marks the knee joint). Marginal vein is depicted (stars) in the lateral calf and thigh.
The vein has numerous tributaries communicating with deep veins (arrowhead). The vein drains into the iliac vein
in the pelvis (superior star). (C) Sagittal magnetic resonance image of a lower extremity in a patient with CLVM.
An ectatic marginal vein (arrowheads) containing a nonocclusive intraluminal thrombus (arrow) is present. (D)
Excision of the lateral marginal vein in the thigh.
109
110
Special Issues
A team of specialists is often necessary to manage
patients with CLVM. Some of the more common
manifestations of this disease include superficial
thrombophlebitis, deep venous thrombosis (DVT),
pulmonary thromboembolism (PE), infection,
pain, and depression. Parental and patient education should start in infancy and continue into
adulthood.
Persistent embryonic and phlebectatic veins
can be troublesome to patients. These veins can
be associated with pain, edema, sensation of
heaviness, bleeding, and ulceration. Superficial
thrombophlebitis has a frequency between 15%
and 50%.10,23 The organized thrombus may
calcify and form phleboliths which can be a source
of discomfort. Treatment consists of non-narcotic
analgesics, anti-inflammatory medications, and limb
elevation. Low-dose aspirin (81 mg) can be used
to minimize phlebothromboses. If phlebothromboses recur, sclerotherapy can be considered.
DVT and PE occur in 4% to 11% of cases of
CLVM. Persistent embryonic veins are likely the
major source. Flow in these capacious channels
is often retrograde or stagnant; thrombosis occurs
due to diminished flow. Because these channels
may connect anomalously to the femoral or iliac
veins or IVC, a dislodged clot may result in PE.
Patients with anomalous connections to the
femoral or iliac veins or IVC should be considered
for pre-emptive ablation or resection to decrease
the risk of DVT and PE. This pattern should also
be recognized before major invasive procedures,
and when present, we recommend the placement
Fig. 3. MRI of lower extremity CLVM. (A) Coronal T1-weighted image shows a lateral marginal vein in the left
thigh (arrows). Macrocystic LMs are seen in the buttocks (arrowhead). Microcystic LMs predominate in the thighs
(stars). (B) Postcontrast axial T1-weighted image shows an uninvolved right leg in comparison to an affected left
leg. There is predominantly extrafascial hypertrophy of the soft tissue of the left leg (white star). Some intrafascial component is seen as well (black star). (C) Coronal view of soft tissue hypertrophy.
Fig. 4. Orthopedic morbidity. (A) Infant with CLVM of the extremity, genitalia, and trunk. Severe limb deformity
precludes ambulation and thus requires selective amputation. (B) Scanogram shows an LLD (left leg longer than
the right).
111
112
Nonoperative Management
Compression therapy is the mainstay of conservative treatment in patients with CLVM. We generally
do not recommend compression therapy until the
child begins to walk; compression is difficult in
toddlers, and garments are expensive. Elastic
bandages can be used during periods of rapid
growth. We recommend routine use of compression therapy by 4 to 5 years of age to minimize
swelling from lymphedema, chronic venous insufficiency, and lymphatic vesicles. Compression
therapy may improve pain and the sensation of
heaviness. The length of the garment depends
on the extent of extremity involvement. The greatest tolerated pressure should be used (a good
starting point is 30e40 mm Hg). Pneumatic
compressive devices are also an option, especially
while recumbent or sleeping.
Sclerotherapy is used to treat focal VMs, small
varicosities, LMs, and lymphatic vesicles. Small
Fig. 5. Surgical correction of soft tissue overgrowth of the ankle to allow use of footwear. (A) Preoperative
appearance. (B) Intraoperative incision. (C) Flaps are raised cephalad and caudad. (D) Four months postoperation.
113
114
Fig. 6. CLVM with soft tissue hypertrophy of inner thigh. (A) Lenticular excision is marked for debulking. (B) Wellvascularized flaps mobilized in both directions to remove maximum amount of soft tissue.
Fig. 7. Lower extremity debulking procedure for CLVM. (A) Preoperative appearance. (B) Skin flaps have been
raised 90 in each direction (top). Soft tissue specimen (middle). Linear wound closure with moderate tension
(bottom). (C) Four years postoperation.
Fig. 8. Progression of CLVM of genitalia. (A) Mild hypertrophy of labia majora at 14 months of age. (B) By 9 years
of age, the right labium majus has increased in size. (C) MRI at age 9 years of age shows microcystic LM (arrow).
115
116
CAPILLARY-ARTERIOVENOUS
MALFORMATION AND CAPILLARYARTERIOVENOUS FISTULAS
Capillary-arteriovenous malformation (CAVM) and
capillary-arteriovenous fistulas (CAVFs) correspond to the old eponym Parkes Weber
syndrome. This syndrome is characterized by the
presence of a confluent or patchy CM with underlying multiple microarteriovenous fistulas in association with soft tissue and skeletal hypertrophy
of the affected limb (Fig. 10).7,34 There is often
an associated lymphatic component. Like other
vascular malformations, the diagnosis may be suspected antenatally but cannot be confirmed until
birth. The infant usually presents with diffuse
enlargement of the involved limb, most commonly
a lower extremity. In some instances, the
syndrome is not obvious at birth and becomes
apparent during infancy and childhood.27 The ipsilateral buttock or trunk may be involved.35 The
stained areas are usually warm; a thrill may be
palpable. Auscultation may detect a bruit. Handheld Doppler examination often reveals increased
flow and low-resistance runoff when placed over
the stained areas.
Mutations in RASA1, either de novo or inherited,
have been identified in patients with CAVM who
Fig. 9. Debulking of CLVM of the buttock. (A) Preoperative appearance of soft tissue overgrowth of bilateral
buttocks. (B) Incision made in the anticipated infragluteal fold. Flaps are raised, and the soft tissue component
was then excised. (C) Six months postoperation.
Fig. 10. CAVM of the extremity. (A) CAVM of the right lower extremity with soft tissue hypertrophy. (B) MRI
demonstrates soft tissue and muscle overgrowth. Large draining veins are also present (arrowheads). (C) Typical
angiographic appearance showing a diffuse soft tissue blush involving the skin, subcutis, and muscle representing
microfistulas.
CLOVES SYNDROME
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies
(CLOVES) syndrome is a newly recognized
syndrome.37,38 Its main features are truncal lipomatous masses, vascular malformations, and
acral/musculoskeletal anomalies (Fig. 11). Not all
features must be present to make the diagnosis
of CLOVES syndrome. Until recently, many
patients with this syndrome were misdiagnosed
as either having CLVM or Proteus syndrome.
Like CLVM and Parkes Weber syndrome, CLOVES
syndrome may be suspected antenatally because
many of the abnormalities can be seen on prenatal
ultrasonography. The pathogenesis of the disease
is unknown.
The key feature is the presence of a truncal lipomatous mass that is usually noted at birth. The
Fig. 11. Physical findings of the CLOVES syndrome. (A) Child with characteristic bilateral truncal lipomatous
masses with a CM overlying the mass on the left. (B) A common acral skeletal anomaly showing widened triangular feet with increased first interdigital web space. (C) MRI depicting a truncal lipomatous mass with
a lymphatic component (arrowheads). Scoliosis of the thoracic spine is also apparent.
117
118
Fig. 12. Surgical debulking of a truncal lipomatous mass in CLOVES syndrome. (A) Preoperative image. (B) Lenticular excision is planned to minimize scar, operative time, and blood loss. (C) Mass is mobilized from the overlying
dermis and is brought through the incision. (D) The cavity is inspected and a drain is placed. (E) The incision is
closed in a purse-string fashion to decrease the size of the scar. (F) One year postresection.
SUMMARY
Proper diagnosis of patients affected by complex
combined vascular malformations is essential.
These patients benefit from an interdisciplinary
approach involving many medical and surgical
specialists. Interventions must be tailored to the
specific needs and symptoms of the patient.
Outcomes are optimized with careful preoperative
planning, identification of comorbidities, and realistic expectations on behalf of both the patient
and surgeon.
119
120