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Vascular Malformations
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LucianaMarzella andPierodi Giuseppe
22
Abstract
Vascular malformations (VMs) are a complex
and multifactorial conditions that can involve
any area of the body for which diagnosis and
treatment often require a multidisciplinary
approach. VMs are congenital anomalies that
are subdivided into numerous categories
grouped into arterious, venous, capillary
lesions or a combination of all of these. There
is much confusion surrounding these little
known malformations; this is due mainly to
the presence of numerous and varied classications. Misclassications or incorrect diagnoses are common and are usually due to the
limited experience of clinicians or radiologists
involved in the diagnosis and management of
vascular malformations; recognizing a vascular malformation and appropriately classifying it are essential for optimal patient care and
require solid knowledge and experience. The
origin of vascular malformations is a genetic
defect that, in many associated syndromes, is
inherited in an autosomal recessive manner,
while in the non-inherited forms, it is a random genetic defect.
L. Marzella (*)
Hand Surgery Unit, IRCCS Galeazzi-Sant’Ambrogio
GSD, Milan, Italy
P. di Giuseppe
Columbus Clinic Center, Milan, Italy
e-mail: chirurgiadellamano@fastwebnet.it
Although embolization and sclerotherapy
are helpful in other districts, they should be
avoided in the hand because of the high failure
rate and sequela; that is why surgical treatment is the best choice for the hand.
Keywords
Vascular malformations · Sclerotherapy ·
Embolization · Arteriovenous · Haemangioma
22.1 Introduction
Congenital Vascular Malformation is a malformed
vessel that results from developmental arrest during embryogenesis and presents at birth as an
inborn vascular defect and continues to grow at a
rate that is proportional to the growth rate of the
body, regardless of its type [1].
Vascular malformations (VMs) are a complex
and multifactorial conditions that can involve any
area of the body for which diagnosis and treatment often require a multidisciplinary approach
[2].
VM can involve any vessel in any organ or tis-
sue, in a non-schaematic manner. This characteristic explains the need for accurate diagnosis in
order to plan appropriate treatment based on the
type of malformation, site (supercial or deep,
localized or inltrating) and extension (limited or
extended), tissue involvement and, lastly, the
haemodynamic effects of the VM [3].
© Springer Nature Switzerland AG 2023
G. Pajardi (ed.), Pediatric Hand Surgery, https://doi.org/10.1007/978-3-031-30984-7_22
255
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L. Marzella and P. di Giuseppe
22.2 Epidemiology
Confusion in terminology and classication has
inuenced epidemiologic data. Haemangioma is
still confused with some venous malformations
and syndromic or mixed vascular malformations
which are reported as distinctly different entities
in the literature.
VMs are rare anomalies that can involve all
areas of the body; the upper limb accounts for
30–60% of cases [2, 4–6]. Fifty percent of lesions
are diagnosed within the rst 2 years from birth,
but minor forms, although present at birth, often
go unnoticed until adolescence or adulthood
when trauma or hormonal alteration stimulates
cellular proliferation, causing the lesions to
become more evident [2, 7–9].
In our personal experience, based on more
than 220 cases of surgically treated VMs of the
hand, the distribution was different because VMs
represented 49% of cases, arterovenous malformations (AVMs) 36%, while lymphatic malformations (LMs) and combined lymphovenous
malformations (LVMs) 13.20% and others
2.40%.
22.3 Classications
Vascular malformations (VMs) are congenital
anomalies that are subdivided into numerous
categories [4, 7, 8] grouped into arterious,
venous, capillary lesions or a combination of all
of these. There is much confusion surrounding
these little known malformations; this is due
mainly to the presence of numerous and varied
classications [2].
The rst classication was presented in 1863
by Rudolph Virchow, who divided angiomas into
three categories: angioma “symplex”, angioma
“cavernosum” and angioma “racemosus” [2, 10].
In 1964, Malan and Puglionisi proposed dividing
vascular malformations into two large groups of
congenital malformations: dysplasia (normal formation with structural deviations) and hamar-
toma (abnormal development of normal tissue in
a determined area of the body) [2, 7, 8]. The rst
real classication of congenital vascular malformations to achieve general consensus was the
Mulliken’s classication of 1982 [2, 11]. For the
rst time, a clear distinction was made between
vascular tumours, the most representative of
which is haemangioma, and real vascular malformations. This classication supplied the framework for all classications to follow: the Hamburg
classication of 1988 [3], modied in 1993 [2,
12], and the ISSVA (International Society for the
Study of Vascular Anomalies) classication of
1996 [2, 13], further modied in 2014 [2]. This is
an articulated classication made up of various
appendixes simplied into a table (Table22.1).
Based on angiographic features, vascular
malformations are distinguished as high or low
ow depending on the presence or absence of a
haemodynamically signicant arterial axle [2,
14]. The existence of so many classications
that fail to meet with universal agreement
clearly shows vascular malformations to be a
complex subject for which a multifactorial
approach is needed that takes into account the
site of the anomaly [2]. Misclassications or
incorrect diagnoses are common and are usually
due to the limited experience of clinicians or
radiologists involved in the diagnosis and management of vascular malformations. The use of
an inappropriate imaging modality (e.g. CT
instead of MRI) and poor image quality can also
contribute to this clinical dilemma [13]. The
most common misdiagnosis or misconception is
the use of the term haemangioma to mean
venous malformations. This misconception can
easily lead to incorrect triaging and mistreatment. For example, patients are commonly
treated with steroids because of the interpretation of a haemangioma lesion on the imaging
study [13]. Another common mistake is calling
the malformation an AVM although all clinical
and radiologic ndings are characteristic of a
low-ow vascular anomaly. Therefore, recognizing a vascular malformation and appropri-
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Table 22.1 ISSVA classication of vascular anomalies ©2014 International Society for the Study of Vascular
Anomalies available at “issva.org/classication” accessed 29th October 2017
Vascular tumours Vascular malformations
Benign Locally aggressive Malignant Simple Combined
Infantile
haemangioma
Congenital
haemangioma
Tufted
haemangioma
Spindle-cell
haemangioma
Epithelioid
haemangioma
Pyogenic
granuloma
Kaposiform
haemangioendothelioma
Retiform haemangioendothelioma Epithelioid
PILA (papillary intralymphatic
angioendothelioma) and Dabska
tumour
Composite
haemangioendothelioma
Kaposi sarcoma Arteriovenous
Angiosarcoma Capillary
malformation (C)
Lymphatic
haemangioendothelioma
malformation
(LM)
Venous
malformation
(VM)
Arteriovenous
malformation
(AVM)
stula
257
CVM and
CLM
LVM and
CLVM
CAVM
CLAVM
ately classifying it are essential for optimal
patient care and require solid knowledge and
experience [13].
22.4 Aetiology andEmbryology
Poor knowledge still today leads the population
to consider vascular malformations something
caused by a mother’s unsatised cravings during
pregnancy. In fact, they are known as birthmark.
Several factors have been identied, some proven
and others strongly involved: genetic and chromosomal abnormalities, mother’s age, damaging
chemical compound and infections (cytomegalic
inclusion disease, herpes virus and toxoplasmosis). Thalidomide and other drugs, as well as
alcohol, tobacco and cocaine abuse, have all been
identied as causes of birth defects [15]. Some
maternal diseases and exposures have also been
associated with birth defects. These include
endemic goitre, diabetes, thyroid disease, tuberculosis and hypoxia [15–18].
Vascular malformations have an incidence of
1.2% [13] and can involve all areas of the body
with upper limb incidence between 30% and
60% [4–6]. Fifty percent of lesions are identied
within the rst 2 years of life, but minor forms,
although present at birth, often go unnoticed until
adolescence or adulthood when trauma or hor-
monal alteration stimulate cellular proliferation,
causing them to be more evident [7–9]. In fact, a
2012 study revealed the presence of androgen,
oestrogen and growth hormone receptors in the
malformations [19].
The origin of vascular malformations is a
genetic defect that, in many associated syndromes, is inherited in an autosomal recessive
manner, while in the non-inherited forms, it is
a random genetic defect. Gene mutations of
some vascular malformations have been identified, thatis, lymphatic mutations concern
PIK3CA [20]. Somatic activating mutations in
GNAQ and GNA11 are associated with congenital haemangioma [21]. Endothelial cells
in capillary malformations are enriched for
somatic GNAQ mutations [22]. Somatic mutations in MAP2K1 are a common cause of
extracranial arteriovenous shunting malformation (AVM) [23].
The mutation of these genes results from
developmental errors during embryogenesis.
Angiogenesis takes place in two stages [15] as
follows:
1. Reticular stage: angioblasts and primitive vas-
cular cells evolve by forming a primitive vascular network.
2. Truncular stage: certain areas of the primitive
capillary network regress while others evolve
into mature vessels.
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L. Marzella and P. di Giuseppe
Genetic anomalies can involve both the stages
so we can have the following:
1. Reticular vascular malformations (true vascular malformations): primitive vascular regression defect, areas of multiple dysplastic
vessels of small and medium calibre localized
anywhere in the body, can be extensive and
inltrate tissue.
2. Truncular vascular malformations (vascular
anomalies): a defect of main vessels, aplasia,
hypoplasia, dilatations, hyperplasia, aneurisms and stulas.
22.5 Diagnosis
VMs are present at birth, may be visible or
become evident later, may be supercial and
localized to one small area or represent an extensive malformation of the deep tissue.
VMs may involve any vessel and any tissue.
This fundamental characteristic explains why the
clinical prole can vary, especially for extratruncular VM.
Vascular malformations may appear either as
a predominant lesion (e.g. VM, LM, AVM) or as
a mixed anomaly comprising various VMs [24].
Truncular malformations of the upper limb are
quite rare, while extratruncular malformations
are more common.
A medical examination is sufcient in most
cases to establish diagnosis. Nevertheless, instrumental investigations are necessary to better
dene extension, tissue involvement and characteristics, especially in combined vascular
malformations.
VMs may present as solitary or multiple
lesions, either supercial and localized or deep
and extensively inltrative. VMs can cause pain,
and when the lesions involve the muscle, nerve or
bone, they may be complicated by specic secondary symptoms (Fig.22.1).
VMs in the upper extremities are easily collapsed when the arm is elevated to allow venous
drainage.
LMs are generally asymptomatic, until complications develop (e.g. lymphatic leakage, intralesional bleeding, infection) or functional
impairment occurs.
Local hyperthermia, a thrill and bruit that are
the hallmarks of AVM often match visibly
dilated veins. Ischaemic changes and ulceration
of the skin can develop distal to the shunt, often
with intractable pain and intermittent bleeding.
Distal gangrene is likely if arterial insufciency
is severe. Combined or syndromic VMs are less
common in the hand and appear as a particular
picture that associates aspects of the various
components of the malformation.
Fig. 22.1 AV vascular
malformation inltrating
the thenar muscles,
showing dilated drainage
veins and ischaemic
distal phalanx. X-ray
shows bone involvement
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22.6 Haemangioma
The term haemangioma is often used erroneously.
Mulliken published an article in 2011 showing that
out of 320 papers examined, 71.3% (228) erroneously used the word haemangioma. Patients whose
lesions were mislabelled were more likely to
receive improper treatment (20.6%) compared
with those whose lesions were designated using
the International Society for the Study of Vascular
Anomalies terminology [25]. The article concluded with the afrmation: “Haemangioma continues to be commonly misused to describe any
type of vascular anomaly, and terminological
imprecision is prevalent among both medical and
surgical elds. Inaccurate designation of the vascular anomaly is associated with an increased risk
of erroneous management”. Haemangiomas are
among the most common benign tumours in children, appearing in 7–10% of infants [26, 27].
Approximately, 30% of haemangiomas are present at birth, with the remainder becoming evident
within the rst 4 weeks of life [27, 28]. Clinically,
they are characterized by a period of rapid growth
followed by a static period and, eventually, slow
involution. Histologically, haemangiomas show
endothelial cell proliferation, which is accelerated
during the rapid growth phase [27]. Patients with
congenital haemangioma are surgically treated in
cases of abnormal growth with signs of nerve or
joint compression which could cause permanent
damage during growth or in the presence of ulceration (Fig.22.2).
259
Fig. 22.2 Haemangioma in a 4-year-old child
22.7 Imaging
Radiography, ultrasonography (US), CT (computed tomography) and MRI (magnetic resonance imaging) are usually performed to conrm
the suspected diagnosis, to determine the extent
of the vascular anomaly and to search for associated abnormalities [29, 30].
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L. Marzella and P. di Giuseppe
22.7.1 Echo-Doppler
The rst exam is echography associated with a
Doppler, which enables to diagnose richly vascularized formations. In this way, it is possible to
identify the presence or absence of ow within
the detected mass and therefore classify the malformation as low or high ow. The absence of
ow can point us towards the presence of vascular deciencies or lymphatic forms.
22.7.2 Magnetic Resonance
Angiography (MRA)
MRA is an indirect, noninvasive, operatordependent exam. Results are inuenced by the
number of scans, exposure time and thickness
and extension of eld, as well as the experience
Fig. 22.3 Venous
malformation in the
palm of an 18-year-old
woman, detected with a
MRI in the presence of a
unclear clinical picture
of the radiologist. MRA supplies images of the
malformation, site and extension in tissue and
represents the elective exam for the venous and
lymphovenous vascular malformations, as seen
in Fig.22.3.
22.7.3 Angiography
Angiography is a direct, invasive exam with possible complications (infection, vessel breakage,
ischaemic pain, intolerance to contrast medium,
shock). It requires hospital or day hospital admission that affects overall costs. Angiography helps
to focalize the vascular malformation nidus
inside an arteriovenous malformation.
The evolution of angiography is the videodigital- angiography, elective for complex hidden
arteriovenous malformations (Fig.22.4).
ab
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261
Fig. 22.4 VM in a 26-year-old woman: (a) AngioMRI and (b) arteriography
22.7.4 Lymphoscintigraphy
This is an elective exam for lymphatic forms,
enabling identication of site and spread. It is
invasive because of the radioactive contrast
medium so its use is limited.
22.8 Treatment Principles
For compressible lesions, such as lymphatic and
venous VM, tailored compressive dressings can
be worn to provide symptomatic relief and alleviate pain, heaviness and dragging secondary to
limb distension [31]. In some patients, this also
provides some improvement in aesthetic appearance. Sclerotherapy and embolization, which are
very common in other districts, should be avoided
in the hand, because of the high failure rate and
sequelae, and should be limited in supercial
proximal forms performed by a skilled radiologist [32]. Commonly used sclerosing agents
include alcohol or sodium tetradecyl sulphate,
ethanol and ethibloc ([Johnson and Johnson] a
combination of amino acids, ethanol and contrast
agents) [10, 31, 33]. Some surgeons prefer
sodium tetradecyl sulphate for small supercial
lesions; 100% ethanol is used for larger and
deeper VMs [10]. Administration of ethanol
directly into the lesion can be very painful; therefore most procedures are performed under general anaesthesia. Potential complications include
necrosis of the overlying skin and nerve injury
due to extravasation. In rare cases, postinammatory hyper-pigmentation and infection
can occur in the presence of ulceration [33].
Arterious embolization can be considered during angiography for arteriovenous malformations
(AVMs), but this procedure can be extremely
risky especially for distal portions of the hand
due to the high risk of ischaemia; it is therefore
used as a rst step treatment to reduce the mass to
prepare it for surgery [15] (Fig.22.5).
Indications for surgical treatment are pain,
intralesional thrombosis, bleeding, nerve compression, recurrent infection, functional disability, overgrowth and compartment syndrome.
Incomplete resection and diffuse lesions can
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Fig. 22.5 Arterovenous
malformation limited to
the distal palm of a
23-year-old man. Signs
of previous proximal
embolization are evident
in the angiography
image
L. Marzella and P. di Giuseppe
cause recurrence [34]. In cases of massive lesions,
limb amputation or ray resection may be indicated
[27, 35]. Of all the vascular malformations, highow-type lesions exhibit the poorest prognosis.
Following some authors despite early and aggressive multistaged excision and microvascular
reconstruction, 90% of patients require major
amputation to alleviate pain and chronic ulceration [35].
The surgeon should avoid performing intraneural dissection as rst approach [27] and capsulectomies when excising the lesion. Bleeding,
pain, oedema, CRPS (complex regional pain syndrome), wound dehiscence and, of course, recurrence are possible complications.
22.9 Surgical Treatment
Radical surgical excision remains the only denitive cure for certain vascular malformations, but
it can be associated with high morbidity. On the
other hand, incomplete resection of the malformed tissue often results in a high risk of recurrence. Recurrence following treatment remains a
signicant problem for all embryologically
immature extratruncular lesions, and the poten-
tial for recurrence should never be underestimated [24].
Particularly when dealing with the hand, the
challenge is to obtain a good equilibrium between
radical excision and prevention of recurrence,
complications and functional impairment. This is
the approach that we call “functionally radical
excision”.
We follow the indications of conservative surgery proposed by Belov [24] and a diagnostic and
therapeutic programme tailored for each patient
(Fig.22.6).
A multidisciplinary approach is a well-dened
surgical plan in a delimited area, under tourniquet control, with step-by-step procedures, and
when possible, avoid returning to the same operative eld unless absolutely necessary, in which
case wait sufciently for tissue to stabilize and
avoid intraneural or articular procedures.
In VM of the hand, tissue involvement is the
most important feature because of the presence
of highly functional, complex components conned to a small space [36].
In VM, skin is thinned by compression while
fat tissue is extensively involved. This allows a
subdermal dissection to preserve skin aps and
reduce bleeding (skin sparing technique). In
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a b
263
c d
Fig. 22.6 (a) Clinical picture of a venous malformations in a 20-year-old woman. (b) X-ray shows bone compression
deformity. (c) MRI shows expansive mass. (d) Operative aspect of venous malformed tissue
AVMs, subcutaneous tissue is involved and skin
is damaged by ischaemia or direct invasion [24,
36].
Three points have been noted in our experi-
ence regarding skin as follows:
– As skin has a “passive motor function” and
scars can hamper movements, the choice of
skin incisions is a very important point in surgical planning. Mapping the lesions and drawing incisions help to avoid scar contracture.
– When not damaged, aps undermined at the
subdermal plane survive and allow good coverage avoiding grafts or distant aps.
– In LVM, skin can be excised following some
patterns together with the malformed tissue
[36].
Other than the skin, the involvement of nerves
and bones is the greatest challenge in this kind of
surgery:
Bone can be affected in low- (venous) or high(arteriovenous) ow malformations. Radiography
and haemodynamic evaluation help to decide on
treating with surgery alone or a combined sclerotherapy and surgical approach.
Joint instability can be due to direct bone or
ligament involvement. In case of severe PIP
(proximal interphalangeal) or DIP (distal interphalangeal) joint instability, temporary immobilization with K wires is recommended [36].
Nerves: Here the choice is to limit surgery to
surrounding malformed vessels, thus avoiding
entering the nerve. Pain and impaired nerve function are the main complaints, and external decompression is the rst procedure used to reduce
symptoms [35, 36].
The use of a microscope permits a more precise dissection and avoids lesions to the epineurium. Internal neurolysis is a risky procedure and
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L. Marzella and P. di Giuseppe
abc
Fig. 22.7 (a) Intraoperative image of a VM involving all tissues in the wrist; (b) no evidence of tendon involvement
during surgery; (c) complete excision of the VM
may result in nerve resection and grafting. In our
experience such a procedure has never been
performed.
In case of nerve damage, repair by suture or
graft should be performed immediately.
Tendons are never affected while synovia is
commonly involved.
In some cases, we observed involvement of
tendon sheets just like in rheumatoid arthritis
while tendons were almost completely undamaged (Fig. 22.7). Synovectomy is a safe and
effective operation and permits to remove malformed tissue around tendons [36].
Muscles are widely and frequently involved,
and their partial or total excision is often the only
way to obtain signicant reduction of the VM
mass.
In cases in which it is necessary to resect
groups of muscles, it is possible to perform secondary palliative procedures.
When a single expendable distal muscle is
involved, total resection is the procedure of
choice. When an important muscle or group of
muscles are inltrated, partial resection should be
considered. Here also it is possible to combine
sclerotherapy prior to surgery, to reduce the malformed mass in AVMs.
Multiple forearm muscles are often inltrated
or present sclerosis following previous operations
or other treatments. In such cases, an individual
analysis of residual function and healthy muscles,
considering symptoms and haemodynamic ndings, can provide guidelines for surgery. Excision
of exor carpi ulnaris if palmaris longus and exor
carpi radialis are preserved, or resection of a mass
inside exor digitorum supercialis, thus weakening its function, if exor digitorum profundus is
spared, can be proposed [36].
22.10 Complications
Distal ischaemia and skin necrosis or nerve damage are the main complications that Belov’s principles of functionally radical surgery aim to
prevent.
Haematomas and partial skin necrosis are
generally minor sequelae and do not affect the
nal result. The use of tourniquet, drains and
appropriate postoperative dressing reduce these
risks.
Our surgical approach is conservative, but
sometimes, in the presence of massive AVMs,
amputation is unavoidable.
Extensive tissue involvement and damage secondary to treatments, particularly in children, can
induce muscle retraction, progressive bone deformation and joint stiffness that require secondary
surgery.
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