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horizontal view frontal view angiographic view
17 Diagnosis andTreatment ofVascular Anomalies
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Fig. 17.4 MRI investigation of a large hemangioma. The horizontal and frontal view demonstrates the extent of the
tumor mass, and the angiographic depiction allows the analysis of blood supply
231
Treatment According toType
Management of vascular anomalies is challenging
because of the high likelihood of involvement of
functionally critical structures. Multiple modalities of treatment exist for vascular anomalies of the
head and neck, including medical therapies,
sclerotherapy, embolization procedures, and surgery. Therapeutic strategies differ in between the
subclasses of vascular anomalies (Table17.5).
Hemangiomas
The most common representative of vascular
tumors is hemangiomas. Hemangiomas can be
subdivided into an infantile type (IH) and a congenital type (CH). They are characterized by
endothelial cell proliferation and angiogenesis
and do not have to be present immediately after
birth but may develop in the rst few weeks of
life and start regressing during puberty or earlier
[43]. Infantile hemangiomas tend to grow rapidly
in the rst few months after birth before spontaneous regression in early childhood. Congenital
hemangiomas differ from infantile hemangiomas
as they are fully developed at birth and tend to
either regress rapidly (rapidly involuting congenital hemangioma, RICH), regress partially (partially involuting congenital hemangioma, PICH),
or not regress at all (non-involuting congenital
hemangioma, NICH) [44].
Treatment ofHemangiomas
Only symptomatic hemangiomas need to be
treated; in general, they rarely cause symptoms
that necessitate therapeutic steps. Conservative
management with a “watch-and-wait” approach
is adopted in most CH cases. Those complicated
by hemorrhage, ulceration, airway obstruction,
or ophthalmic involvement and those causing
severe psychological distress or disgurement
warrant earlier treatment [45]. For simple IH
lesions, conservative management following a
comprehensive clinical history and examination
at initial presentation is sufcient. The majority
of IHs involute spontaneously. They do not
require treatment, especially when small, supercial, and located in areas covered by hair or clothing, or unlikely to cause disgurement or other
complications [46–49]. However, primary care
clinicians should actively observe neonates or
infants with hemangioma at frequent intervals
during the rst few weeks and months of life and
educate parents about the natural course, complications, and psychosocial impact of His [50, 51].
As recent studies show that most IHs complete
the proliferative phase by 5months of age, the
2019 AAP CPG for IH management recommends
that primary care clinicians refer infants with
high-risk IHs to IH specialists by 1month of age.
The IH management guidelines from Europe, the
USA, Australia, and Japan all recommend oral
propranolol as the rst-line treatment for highrisk His [51].

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Table 17.5 Treatment principles according to type
Hemangioma Venous malformation Lymphangioma AV malformation
• Wait and see
• Propanolol
• Corticosteroids
• Laser therapy
• Vessel ligation
• Surgical resection
• Compression
• Percutaneous sclerotherapy
• Surgical resection
• Sclerotherapy
• Medical therapy (Sirolismus)
• Surgery
• Embolisation
• Surgery
U. Meyer
Table 17.6 Vessel anatomy and MRI diagnostics as a
basis for surgical intervention. The buccal hemangioma
has the main blood supply through the facial artery, with
Ascendent
pharyngeal
vessels
Ascendent
pharyngeal
vessels
Anatomy
Facial vessels
Facial vessels
Angio MRIlateral
view
early phase
Management of complicated IHs is mostly
done with oral propranolol alone [52, 53].
Propranolol has replaced oral corticosteroids as a
rst-line treatment for IH and has been shown in
multiple studies to be safe and effective in reducing the size and discoloration of IH, possibly by
induction of vasoconstriction [54]. The goals of
complicated IH treatment are to prevent lifethreatening complications and permanent disgurement, decrease psychosocial stress for the
patient and family, and avoid unnecessary interventions. Such lesions can be managed surgically
with laser treatment or resection, although surgical therapy is limited by lesion vascularity and a
combined approach is often adopted [55–58].
Surgery continues to be a viable alternative to
all the above modalities. Although it yields nearly
instantaneous resolution of the lesion, it carries
with it the risk of bleeding, despite the wellcircumscribed nature of IH. Patients must be
selected very carefully for excision accounting
only a minor part through the pharyngeal ascending artery
(Source: Graphic: Shutterstock and MRI: Radiology,
Clemenshospital Münster)
Facial vessels
Angio MRI
intratumor vessels
anatomy
intermediate
phase
Angio MRI
frontal view
late phase
for the size, location, and surgical risk to surrounding structures [59]. Surgery is generally
reserved for lesions that are refractory to less
invasive treatments. Various techniques and technologies have aided in limiting and controlling
intraoperative bleeding, rendering surgical excision a more favorable option in appropriate clinical scenarios. The technique of surgical vessel
ligation is aimed to occlude the afferent and
efferent vessels to reduce the blood supply of the
hemangioma and to reduce the tumor mass. The
technique of vessel ligation is exemplied by a
ligation of the facial artery and vein after a thorough evaluation of the vessel anatomy at the
tumor side (Tables 17.6 and 17.7).
Venous Malformations
Venous malformations grow with the child and
do not spontaneously involute, typically becom-

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233
Table 17.7 Surgical procedure to ligate the facial vessels. After a Doppler ultrasound investigation of the
patient’s individual vessel anatomy, the course of the
artery is marked, and after a small incision, the vessels are
prepared and ligated (Source: Ulrich Meyer)
Ultrasound Doppler invesgaonClinical view
Vessel marking Preparaon and ligaon of facial artery and vessel
ing larger around puberty, when they may
require intervention. VMs can involve soft tissue and bone and can cause disgurement or
disability. Venous malformations (VMs) are the
most frequent vascular anomaly [60]. Despite
their morphological diversity, they have multiple common diagnostic features. At clinical presentation, venous malformations are soft
compressible masses with bluish skin discoloration without signs of bruit, pulsation, or local
redness. The skin may show tiny dark-blue
spots, which indicate phleboliths after recurrent
thrombophlebitis. Cutaneous, subcutaneous,
and epi- and subfascial muscular or osseous
manifestations of venous malformations can
occur [22].

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U. Meyer
Full clinical assessment of the extent of the
lesion and associated deformity must be undertaken. The imaging investigation of choice is
ultrasound (US), which may show characteristic
phleboliths (well-dened, round calcic lesions)
representing areas of spontaneous thrombosis.
Doppler US will demonstrate slow ow in compressible, dilated vascular channels. Contrastenhanced magnetic resonance imaging
(CE-MRI) provides anatomical assessment of
lesion extent and complications such as bone or
orbital involvement.
Treatment ofVenous Malformations
Most lesions are small and relatively asymptomatic, requiring no intervention. Compression of
larger extremity lesions with graded compression
garments can help to alleviate swelling and pain.
Medical management remains controversial.
Interventional management includes ultrasound,
phlebography to characterize the VM and its
draining veins, sclerotherapy, and postprocedural
compression therapy for at least 24 h.
Percutaneous sclerotherapy is generally regarded
as the mainstay of treatment or can form part of a
combined approach, together with surgery [61,
62]. Recurrence rates are high. In extensive VMs,
pain relief due to recurrent thrombophlebitis and
size reduction can successfully be achieved in
more than 90% of patients with polidocanol or
sodium tetradecyl sulfate (STS) foam. Surgical
resection can be denitive in well-dened lesions.
Lymphangiomas
The clinical manifestation of lymphatic malformations (LMs), which are far less frequent than
VMs, ranges from local swelling, red or brown
skin discoloration, and severe pain to generalized
and recurrent infection of the affected region.
Especially in the head and neck, where almost
70% of LMs occur, hemorrhage may cause swallowing disorder and discomfort. 25% of LMs are
diagnosed in the chest wall and extremities and
5% in the organ parenchyma [63].
They are subclassied depending upon the
size of the lymphatic spaces. In general, if the
cysts are ≥1cm in diameter, the lesions are macrocystic, whereas channels of ≤1cm constitute a
microcystic lesion. Lesions can be mixed. For
LM, this is comparable to that of VM and
demands thorough clinical assessment and referral to a vascular anomaly MDT.
Treatment
In more than 80% of patients with macrocystic
LMs, sclerotherapy with picibanil, also known as
OK-432, a lyophilized mixture of streptococcus
pyogenes, is effective. Postinterventionally,
patients may develop local inammation and
fever that require symptomatic therapy.
Microcystic LMs do not respond to picibanil and
may need systemic therapy with sirolimus or surgery. Surgical resection has a larger role in the
treatment of LM than in VM.Preoperative imagebased staging of lesions is performed to help predict risk and outcome as surgery can be complex
[64–66].
Arteriovenous Malformations
Arteriovenous malformations (AVMs) are rare
vascular anomalies, but undoubtedly, the most
challenging to treat successfully as they invariably progress due to the fast ow in the arteriovenous connections. AVMs can cause serious
clinical issues [67].
AVMs are rare, congenital, and dynamic vascular lesions. A nidus forms a direct communication between the arterial and venous systems (in
the absence of a normal capillary bed) resulting
in shunting of blood under arterial pressure into
the low-pressure venous system. Growth and
local invasion can cause disgurement, functional disturbance, hemorrhage, and high-output
cardiac failure [68].
Referral to the MDT with input from an interventional neuroradiologist is preferable for suspected high-ow lesions of the head and neck.
Most can be diagnosed and adequately assessed
by clinical examination although Doppler US can
be used to conrm the presence of AV shunting
and initial investigation typically includes DSA
performed by an interventional neuroradiologist.

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235
Table 17.8 Treatment indications in AV malformations
Absolute Relative
• Hemorrhage
• Risk of heart-failure
• Life threatening
conditions
• Pain
• Discomfort
• Functional impairment
• Disgurement
• Recurrent infections
• Vascular bone syndrome
MRI of the head and neck can be performed to
assess the lesion’s extent and intracranial
involvement.
Treatment
The necessity to treat AV malformations
depends on various aspects. Relative and absolute indications for treatment can be distinguished (Table 17.8). Suitability for diagnostic
DSA and endovascular embolization should be
decided by the MDT and the performing interventional neuroradiologist [68–70]. Transarterial
and transvenous catheter angiography are prerequisites for anatomical assessment and analysis of the nidus, the site of arteriovenous
shunting. Treatment is centered on obliteration
of the nidus. Embolization can also play a supportive role in presurgical vessel occlusion to
minimize intraprocedural blood loss. For selective ow modulation, mechanical devices as
coils and plugs are available, and for superselective embolization, the liquid agent ethylenevinyl-alcohol-copolymer (EVOH) dissolved in
dimethyl sulfoxide is recommended. EVOH
allows a slow and controlled ow-directed transarterial or transvenous embolization and can
efciently plug the nidus to prevent further arteriovenous shunting [71]. The decision between
a percutaneous, endovascular, or surgical strategy should be taken interdisciplinarily.
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Part VIII
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Patient-Related Treatment
Aspects: Patient Evaluation

Dental, Occlusal, andFunctional
https://t.me/medicina_free
Evaluation ofPatients
ChristophRunte
18
Introduction
Patients with craniofacial malformations must be
examined particularly thoroughly because of the
special needs originating from their condition
[1–4]. This also applies to dental examinations
including the temporomandibular joint and muscles, mainly for the following reasons:
• Higher risk for missing or unerupted teeth
[5, 6]
• Higher risk for tooth misalignment, especially
crowding, and malocclusion [6, 7]
• Higher risk for carious lesions and periodontal
disease [8, 9]
• Higher risk for malformations and dysfunctions of the temporomandibular joint, especially in patients with diseases of the
oculo-auriculo-vertebral spectrum [10–13]
• Greater difculty in oral hygiene management, in compensating for tooth loss and in
tolerating dentures and other intraoral appliances due to oromotor impairment [14]
• Morphological changes of teeth (e.g., taurodontism) and other oral structures [13, 15,
16]
C. Runte (*)
Department of Prosthodontics, University of
Muenster, Muenster, Germany
e-mail: crunte@uni-muenster.de
Therefore, maintaining the oral health and
providing therapy of natural (and possible abutment) teeth are particularly important.
Sensitivity indicates the frequency with which
a test procedure leads to a correct positive test
result. If, for example, a test is carried out on 100
carriers of a certain trait and in 90 cases the test
has a positive result, then the sensitivity of this
test is 0.9. “Correct positive” or “false positive”
in this context refers to the best possible test procedure to detect a certain status, even if this procedure (gold standard) cannot always be used in
everyday clinical practice. For example, the sensitivity of pulp sensibility tests has been determined by comparison of the clinical test (e.g.,
thermal testing) with the result of direct pulp tissue inspection during endodontic treatment as
gold standard [17, 18]. However, this procedure
presupposes an indication for endodontic treatment even in the case of vital pulp tissue.
Specicity on the other hand indicates the frequency of correct negative test results. Sensitivity
and specicity are important parameters for the
evaluation of an examination procedure. With
tests of low sensitivity, many patients remain
undetected, are treated not adequately or too late,
and are wrongly encouraged to regard themselves
as healthy. In the case of tests with low specicity, many healthy persons might become confused, overtreatment occurs, and uncertainty
possibly leads to loss of condence and psychosomatic problems. However, sensitivity and spec-
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icity values of 1.0 are rarely achieved by clinical
examination procedures. The acceptable level of
sensitivity and specicity depends, among other
things, on the invasiveness of the test procedure
and on how severe the consequences of a positive
test result are. In the case of caries risk detection,
it has been suggested that the sum of sensitivity
and specicity should be 1.6 or higher if a caries
risk marker should be considered as suitable for
clinical use [19].
Sensitivity and specicity are determined
using groups with 100% positive and negative
gold standard test results. However, if a test result
is positive, this may still be correct or false positive. Therefore, the patient usually is interested in
whether the positive test result is reliable or not.
This is determined by the positive predictive
value of a test. The positive predictive value of a
diagnostic procedure is the conditional probability that a disease is present under the condition
that the diagnostic test is positive.
Not every test procedure result is “positive” or
“negative.” Some tests need further interpretation
by the examiner. Bitewing radiographs for caries
detection, as an example, will not always be
judged the same way by different observers if the
contrast of a possible lesion to its surrounding tissue is low. In these cases, inter-rater reliability
can be calculated by having the same test result
rated by different examiners under the same
conditions.
Caries Detection
Caries is one of the most common oral diseases.
During the clinical examination of the oral cavity,
the tooth surfaces are examined for visible and
tactile signs of carious lesions [20]. These are
usually manifested by a chalky white [21] or dark
discoloration and cavitation of the affected areas
[22]. Visible inspection is still a reliable procedure if the lesion is not hidden from view and not
too small [23]. However, carious lesions spread
in an undermining manner [24], which is why
they are not always visible directly beneath the
surface. Carious lesions usually start in regions
less accessible to oral hygiene, as plaque adhe-
sion is a prerequisite for caries formation. Most
difcult to inspect are the approximal surfaces.
Bitewing radiographs have been recommended
for approximal caries detection. The frequency of
this radiographic examination should be determined by the individual caries risk assessment
[25–27]. Craniofacial malformations in this context, especially if in connection to cleft lip or palate or anterior open bite with mouth breathing,
should be regarded as a risk factor for caries in
both dentitions [28–32] and a reason to increase
the frequency of bitewing examinations. Usually,
the extent of carious lesions is underestimated by
radiographic examination [33–36]. Recently,
deep learning (i.e., a machine learning technique
using neuronal networks) has been applied to
radiographic early caries detection [37].
As early caries detection just by visual inspection is sometimes unsatisfactory, and probing
might damage the enamel surface, other technical
solutions have been developed, such as beroptic transillumination (FOTI) and digital imaging ber-optic transillumination (DIFOTI)
[38–40], laser uorescence (LF) [41, 42], quantitative light-induced uorescence (QLF) [43, 44],
optical coherence tomography (OCT) [45, 46],
and electrical conductance devices [39, 47].
Fiber-optic transillumination (FOTI) technique is based on the scattering of light in demineralized areas of the enamel. Transilluminated
lesions therefore appear darker than the surrounding tissues. However, to estimate the extent
of carious lesions using digital FOTI is difcult
and does not match to the results of dental radiographs [48].
Enamel and carious lesions show uorescence
when illuminated with the light of certain wavelengths. These uorescence effects can be used to
distinguish healthy from demineralized enamel.
Laser uorescence (LF) uses the uorescence
emitted from porphyrins illuminated with light at
655nm wavelength [49, 50]. Quantitative lightinduced uorescence (QLF) devices use enamel
autouorescence by illuminating with blue light
(360nm) and ltering the reected light to wavelength above 560nm [51].
In caries detection, optical coherence tomography (OCT) is used with near-infrared coherent
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