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horizontal view frontal view angiographic view
17 Diagnosis andTreatment ofVascular 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 toType
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 (Table17.5).
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 ofHemangiomas
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 disgurement warrant earlier treatment [45]. For simple IH lesions, conservative management following a comprehensive clinical history and examination at initial presentation is sufcient. The majority of IHs involute spontaneously. They do not require treatment, especially when small, super­cial, and located in areas covered by hair or cloth­ing, or unlikely to cause disgurement or other complications [4649]. 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 5months of age, the 2019 AAP CPG for IH management recommends that primary care clinicians refer infants with high-risk IHs to IH specialists by 1month 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 disg­urement, 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 [5558].
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 exemplied 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 invesgaonClinical view
Vessel marking Preparaon and ligaon of facial artery and vessel
ing larger around puberty, when they may require intervention. VMs can involve soft tis­sue and bone and can cause disgurement 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-dened, round calcic 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 ofVenous 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 denitive in well-dened 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 subclassied depending upon the size of the lymphatic spaces. In general, if the
cysts are 1cm in diameter, the lesions are mac­rocystic, whereas channels of 1cm 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 inammation 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 [6466].
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 disgurement, 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 conrm 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
• Disgurement
• 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 [6870]. 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 efciently 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, andFunctional
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Evaluation ofPatients
ChristophRunte
18
Introduction
Patients with craniofacial malformations must be examined particularly thoroughly because of the special needs originating from their condition [14]. 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 [1013]
• Greater difculty 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.
Specicity on the other hand indicates the fre­quency of correct negative test results. Sensitivity and specicity 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 specic­ity, many healthy persons might become con­fused, overtreatment occurs, and uncertainty possibly leads to loss of condence and psycho­somatic problems. However, sensitivity and spec-
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icity values of 1.0 are rarely achieved by clinical examination procedures. The acceptable level of sensitivity and specicity 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 specicity should be 1.6 or higher if a caries risk marker should be considered as suitable for clinical use [19].
Sensitivity and specicity 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 difcult 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 [2527]. 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 [2832] and a reason to increase the frequency of bitewing examinations. Usually, the extent of carious lesions is underestimated by radiographic examination [3336]. 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) [3840], 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 difcult 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 655nm wavelength [49, 50]. Quantitative light­induced uorescence (QLF) devices use enamel autouorescence by illuminating with blue light (360nm) and ltering the reected light to wave­length above 560nm [51].
In caries detection, optical coherence tomog­raphy (OCT) is used with near-infrared coherent