Manfred Giese

Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings

AIM The aim of this study was to analyse jaw malformations and tooth displacement in patients with neurofibromatosis type 1 (NF1). MATERIAL AND METHODS Forty-eight patients were included in the study (male or female 24 each). All fulfilled the current NIH diagnostic criteria for NF1. The age range was 2.5-66 years. The type of neurofibroma was histologically proven in surgically treated patients. Patients with disseminated cutaneous neurofibromata and those with the plexiform type were distinguished. The analysis was based on physical investigation, photographs, panoramic radiographs and dental casts. RESULTS With the emphasis on alterations of tooth position, deformities of the adjacent bones and malocclusion, the majority of these patients (26) were affected by plexiform neurofibromata. In the other 22 patients with disseminated neurofibromata, malformations of the alveolar ridge were absent and individual oral symptoms were rarely found and were mild, and in all cases were unimpaired. Numerical aberrations and retention of molars was exclusively associated with a trigeminal nerve affected by plexiform neurofibroma. Aplasia of a second lower molar was recognized in four of these plexiform-neurofibroma patients. CONCLUSION It is widely accepted that malformations of the facial skeleton are often of genetic origin. However, in this study these malformations were strongly associated with plexiform neurofibromata originating from the trigeminal nerve. Thus, in addition to presently unknown genetic factors, the pattern of skeletal malformation can be caused by tumour invasion and local destruction, e.g. the neuromuscular unit or prenatal development of the plexiform neurofibroma in the inferior alveolar nerve. It is further concluded that epidemiologic studies on the incidence and severity of NF1 in the oral and maxillofacial region have to distinguish between patients with or without plexiform neurofibroma, especially when analysing alterations and deformities of the jaws, teeth and malocclusion. Aplasia of second inferior molars is an additional (dental) finding associated with plexiform neurofibromata in NF1.

Limitations of B-scan ultrasound for diagnosing fractures of the mandibular condyle and ramus

Abstract The aim of this study was to analyse the applications and limitations of B-scan ultrasonography for diagnosing fractures of the mandibular condyle and ramus. Thirty-two patients with 39 radiologically proven fractures of the mandibular condyle and ramus were in- cluded in the study. The patients were examined with a 7.5 MHz small-part applicator. Five patients without fractures of the facial skeleton acted as controls. Normal sonoanatomical findings had been obtained for patients without mandibular fractures. B-scan ultrasonography enabled the experienced examiner to identify dislocated fractures of the mandibular ramus and the articular process in 67% of the fractures. The main disadvantage of ultrasonography was the inability of this technique to identify non-dislocated fractures. Because of its low sensitivity and specificity, B-scan ultrasonography does not provide an alternative to X-ray diagnosis of mandibular condyle and ramus fractures.

Tumorreduktion plexiformer Neurofibrome im kraniofazialen und Halsbereich

Die Neurofibromatose Typ 1 (NF1) ist eine autosomal-dominante Erkrankung hoher Penetranz mit sehr variabler Expressivität. Epidemiologische Daten über den Anteil kraniofazialer Manifestationen fehlen bisher. An der Klinik für Mund-Kiefer-Gesichtschirurgie der Universität Hamburg wurden bisher 74 Patienten mit NF1 behandelt. Hiervon waren 42 Patienten mit periorbitalen oder orbitalen Neurofibromen variabler Ausbreitung und unterschiedlichen Schweregrads betroffen. Die operative Therapie basiert im wesentlichen auf einer Tumorreduktion, die im Gesichtsbereich häufig mit einem Face-Lift kombiniert wird. Im Halsbereich sind nach eigenen Erfahrungen die Neurofibrome häufiger von einer Pseudokapsel eingescheidet und daher leichter zu präparieren als die diffusen, mehrheitlich rezidivierenden plexiformen Neurofibrome im Versorgungsgebiet des N. trigeminus. Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease of high penetrance and variable expression. Epidemiologic data on craniofacial manifestations are still lacking. Up until now 74 patients with NF1 have been treated at the Department of Oral and Maxillofacial Surgery of the University of Hamburg. Forty-two patients presented periorbital and orbital neurofibromas varying in extension and in the severity of findings of the affected site. Surgical therapy is mainly based on tumour reduction, frequently combined with face-lifting. In our experience neurofibromas of the neck tend to be pseudo-encapsulated, facilitating the preparation of the tumour. On the other hand, identification and preparation of diffuse infiltrating neurofibromas in the trigeminal nerve region are difficult and local recurrence must be expected.Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease of high penetrance and variable expression. Epidemiologic data on craniofacial manifestations are still lacking. Up until now 74 patients with NF1 have been treated at the Department of Oral and Maxillofacial Surgery of the University of Hamburg. Forty-two patients presented periorbital and orbital neurofibromas varying in extension and in the severity of findings of the affected site. Surgical therapy is mainly based on tumour reduction, frequently combined with face-lifting. In our experience neurofibromas of the neck tend to be pseudo-encapsulated, facilitating the preparation of the tumour. On the other hand, identification and preparation of diffuse infiltrating neurofibromas in the trigeminal nerve region are difficult and local recurrence must be expected.Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease of high penetrance and variable expression. Epidemiologic data on craniofacial manifestations are still lacking. Up until now 74 patients with NF1 have been treated at the Department of Oral and Maxillofacial Surgery of the University of Hamburg. Forty-two patients presented periorbital and orbital neurofibromas varying in extension and in the severity of findings of the affected site. Surgical therapy is mainly based on tumour reduction, frequently combined with face-lifting. In our experience neurofibromas of the neck tend to be pseudo-encapsulated, facilitating the preparation of the tumour. On the other hand, identification and preparation of diffuse infiltrating neurofibromas in the trigeminal nerve region are difficult and local recurrence must be expected.

Fehlbildungen der Kieferhöhle bei Neurofibromatose Typ 1

Ziel. Ziel dieser Untersuchung war die Bestimmung von Fehlbildungen der Kieferhöhle bei Patienten mit Neurofibromatose Typ 1 (NF 1). Material und Methode. 22 Patienten mit NF 1 wurden klinisch und radiologisch untersucht. Je 11 Patienten hatten ein plexiformes Neurofibrom des N. trigeminus oder kutan disseminierte Neurofibrome. Der histologische Tumortyp war an den Tumorresektionspräparaten bestimmt worden. Die Fehlbildungen der Kieferhöhle wurden anhand nativradiologischer und computer- bzw. magnetresonanztomographischer Aufnahmen bestimmt. Es wurden intraindividuelle Seitenvergleiche zur Pneumatisation und zur Position der Kieferhöhle im Mittelgesicht vorgenommen. Ergebnisse. Patienten mit kutan disseminierten Neurofibromen hatten symmetrisch pneumatisierte Kieferhöhlen. Fehlbildungen der Kieferhöhle wurden nur bei plexiformen Neurofibromen auf der betroffenen Seite beobachtet. Auf der betroffenen Seite wirkte die Kieferhöhle hypoplastisch und kaudal verlagert bei gleichseitig vergrößerter Orbita. Die Expansion des Sinus zur Seite war durch das plexiforme Neurofibrom behindert. Als Folge der Verformungen der Kieferhöhlenwände und des Antrums war der Alveolarfortsatz ebenfalls mit der Folge komplexer Okklusionsstörungen verformt. Diskussion. Fehlbildungen des Gesichts bei NF 1 wurden häufig als Fallberichte präsentiert. Die Betonung der Berichte liegt auf der Beschreibung der elephantiasisartigen Gesichtsentstellungen. Die dem Tumorwachstum zugrunde liegende Pathologie ist bisher nur teilweise bekannt. Dieser Bericht weist erstmals nach, dass die Elephantiasis im Bereich des Mittelgesichts durch das plexiforme Neurofibrom bedingt ist und die Knochen des Mittelgesichts im Seitenvergleich hypoplastisch und skolioseartig verformt sind. Diese Erkenntnisse sind für die Planung tumorreduktiver Eingriffe im Mittelgesicht bei NF 1 wesentlich. Aim. The aim of this study was to determine the malformations of the maxillary sinus in neurofibromatosis type 1 patients (NF1). Material and Methods. Twenty-two patients with NF1 were investigated clinically and radiologically: 11 had an unilateral trigeminal plexiform neurofibroma and 11 had multiple cutaneous neurofibromas. The histological type of NF was ascertained in all cases following tumor resections. The malformation of the maxillary sinus was assessed on plain radiographs and computed or magnetic resonance tomograms. Intraindividual side comparison was used to judge the size of the sinus and its position in the midface. Results. In patients with cutaneous neurofibromas the maxillary sinus appeared symmetrical in size and position. The pneumatization of the sinus had no abnormalities on the radiographs. Malformations of the maxillary sinus were restricted to plexiform neurofibromas. On the side affected by a plexiform NF, the sinus appeared hypoplastic and caudally displaced due to an enlarged ipsilateral orbit. The expansion of the sinus to the lateral side was impaired, obviously due to tumor masses. Consecutively, the alveolar process of the affected side was also displaced leading to a complex malocclusion. Discussion. Malformations of the face are frequently presented as case reports in the literature. Emphasis is given to the elephantiasis-like tumor growth of the face in certain patients with NF1. The underlying pathology has not yet been fully understood. This report provides evidence that in the midfacial region the overgrowth is predominantly caused by the plexiform neurofibroma itself and that the bones can even be hypoplastic and show scoliosis-like malformation compared to the nonaffected side. These findings are relevant when debulking procedures of the face are planned for NF1 patients.

p53-Mutationsnachweis in Abstrichen der Mundschleimhaut von Patienten mit oralem Plattenepithelkarzinom

Das Tumorsuppressorgen p53 kodiert für ein wichtiges Regulatorprotein des Zellzyklus und hat hierdurch wahrscheinlich eine Bedeutung für die Entstehung einer Vielzahl von malignen Erkrankungen, u. a. auch für das Plattenepithelkarzinom der Mundhöhle. Es ist im Zusammenhang mit der Krebsentstehung das am häufigsten mutierte Gen und schon relativ gut untersucht. Daher wählten wir es aus, um herauszufinden, inwieweit Abstriche der Mundschleimhaut geeignet sind, Material zum Nachweis von Mutationen in einem Gen zu liefern, das in Zusammenhang mit der Entstehung von Plattenepithelkarzinomen der Mundhöhle steht, denn Abstriche sind mit wesentlich geringerem Aufwand zu gewinnen als bioptisches Material. Wir untersuchten Probeexzisionen, Tumorabstriche und Abstriche gesund erscheinender Schleimhaut von 32 Patienten mit Mundhöhlenkarzinomen sowie Schleimhautabstriche von 35 gesunden Kontrollpersonen mit Polymerasekettenreaktion (PCR) und Temperaturgradientengelelektrophorese (TGGE). Vierzehn der 32 Tumorpatienten wiesen Mutationen von p53 auf, und in jedem Fall wurden die Mutationen sowohl in der Biopsie als auch im Tumorabstrich nachgewiesen. In vier Fällen wurde die Mutation auch im Abstrich der gesund erscheinenden Mukosa gefunden. Nach unseren Untersuchungen hat sich die Abstrichnahme als geeignete Methode erwiesen, Material für die Detektion von Genmutationen in Plattenepithelkarzinomen der Mundschleimhaut zu gewinnen. Tumour-suppressor gene p53 encodes for an important cell-cycle regulatory protein and is therefore probably important for the development of many malignant diseases, e.g. squamous cell carcinoma of the mouth. This gene has mutated most frequently in connection with the development of cancer, so ¶it has been well explored. Hence we chose it to find out whether swabs of the oral mucosa are suitable for supplying material for the detection of mutations in a gene that is connected with the development of oral squamous cell carcinomas, because swabs are easier to obtain than biopsies. We examined biopsies, swabs from the tumour, and swabs from mucosa that appeared healthy from 32 patients with oral squamous cell carcinoma and mucosal swabs from 35 healthy persons with polymerase chain reaction (PCR) and temperature gradient gel electrophoresis (TGGE). Fourteen of the 32 patients with a tumour showed mutations of p53, and in all cases the mutation could be demonstrated both in the biopsy and in the tumour swab. In four cases the mutation was also found in the swab of normal mucosa. Our investigations revealed that swabs are a suitable method for obtaining material for the detection of gene mutations in oral squamous cell carcinomas.

Stellenwert der B-Bild-Sonographie in der Frakturdiagnostik des Gelenkfortsatzes des Unterkiefers

Ziel dieser Untersuchung war, den Stellenwert der B-Bild-Sonographie im Vergleich zur Röntgendiagnostik für die Diagnostik der Gelenkfortsatzfrakturen des Unterkiefers zu bestimmen. Es wurden 32 Patienten mit ¶39 Frakturen des Gelenkfortsatzes des Unterkiefers B-Bild-sonographisch und konventionell radiologisch untersucht. Die Sonographie hatte mit einer Rate von 67% richtig-positiven Frakturdiagnosen eine nur mäßige diagnostische Treffsicherheit. Insbesondere sind Diastasen, Achsabknickungen und interponierende Weichgewebe in den Frakturspalt sonographisch erkennbar. Radiologisch wurden alle Frakturen nachgewiesen. Trotz der oberflächennahen Lage des Unterkiefergelenkfortsatzes ergaben sich aufgrund der Charakteristik des Sonogramms, nur die laterale Fläche des Gelenkfortsatzes ausschnittsweise darzustellen, der beschränkten Applikationsfläche des Schallkopfs in diesem Bereich mit der Folge fehlender übersichtlicher Darstellung des Knochens in 2 senkrecht zueinander stehenden Ebenen und der in eigenen Untersuchungen limitierten Frequenzauswahl erhebliche Schwierigkeiten in der Interpretation der Befunde (Verlaufskontrolle, Differenzialdiagnose des Kapselrisses, fehlende Identifizierung nicht dislozierter Frakturen). Die Sonographie eignet sich nur sehr eingeschränkt als Untersuchungstechnik für Gelenkfortsatzfrakturen des Unterkiefers, ¶z. B. für Patienten, die eine Röntgenuntersuchung verweigern. In diesen Fällen ist eine Aufklärung über die engen Grenzen der Aufnahmetechnik erforderlich.The aim of this study was to analyse the value of B-scan ultrasonography in the diagnosis of mandibular condylar fractures. A total of 39 condylar fractures of the mandible in 32 patients were investigated by means of ¶B-scan ultrasound and standard X-ray projections. In 67% of positive cases ultrasound imaging enabled correct diagnosis of the fracture. Diastasis of fragments, deviations of the axis, and interposition of soft tissues into the fracture line were identified by B-scan ultrasonography. X-ray diagnosis confirmed all fractures. Despite the close topographic relation of the condyle to the covering skin, the imaging of the these fractures by ultrasound was impaired. There are various reasons for this. The first is that the transducer head can be applied to only a limited facial area (small diagnostic window) to image the region of interest. This means that ultrasonographs of the bone surface in two planes are not possible. Secondly, since ultrasound is used for diagnostic reasons at a frequency of 7.5 MHz, imaging of the fracture line is limited to the lateral aspect of fractures, i. e. the bone surface. The course of the fracture lines to the lingual surface was highly variable. In addition, the complete course of the fracture line could not be visualized by ultrasound in cases with a fracture in the sagittal plane. These are the reasons why in the case of condylar fractures of the mandible decisions on therapy cannot safely be made on the basis of ultrasound alone. Ultrasonographic imaging of mandibular condylar fractures is not the diagnostic tool of choice in this entity. It can be applied in patients refusing X-ray diagnosis, but it is mandatory to inform these patients about the limitations of B-scan ultrasonographic diagnosis in mandibular condylar fractures.

Tumorreduktion plexiformer Neurofibrome im kraniofazialen und Halsbereich@@@The reduction of plexiform neurofibroma in the craniofacial and neck areas

Die Neurofibromatose Typ 1 (NF1) ist eine autosomal-dominante Erkrankung hoher Penetranz mit sehr variabler Expressivität. Epidemiologische Daten über den Anteil kraniofazialer Manifestationen fehlen bisher. An der Klinik für Mund-Kiefer-Gesichtschirurgie der Universität Hamburg wurden bisher 74 Patienten mit NF1 behandelt. Hiervon waren 42 Patienten mit periorbitalen oder orbitalen Neurofibromen variabler Ausbreitung und unterschiedlichen Schweregrads betroffen. Die operative Therapie basiert im wesentlichen auf einer Tumorreduktion, die im Gesichtsbereich häufig mit einem Face-Lift kombiniert wird. Im Halsbereich sind nach eigenen Erfahrungen die Neurofibrome häufiger von einer Pseudokapsel eingescheidet und daher leichter zu präparieren als die diffusen, mehrheitlich rezidivierenden plexiformen Neurofibrome im Versorgungsgebiet des N. trigeminus. Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease of high penetrance and variable expression. Epidemiologic data on craniofacial manifestations are still lacking. Up until now 74 patients with NF1 have been treated at the Department of Oral and Maxillofacial Surgery of the University of Hamburg. Forty-two patients presented periorbital and orbital neurofibromas varying in extension and in the severity of findings of the affected site. Surgical therapy is mainly based on tumour reduction, frequently combined with face-lifting. In our experience neurofibromas of the neck tend to be pseudo-encapsulated, facilitating the preparation of the tumour. On the other hand, identification and preparation of diffuse infiltrating neurofibromas in the trigeminal nerve region are difficult and local recurrence must be expected.Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease of high penetrance and variable expression. Epidemiologic data on craniofacial manifestations are still lacking. Up until now 74 patients with NF1 have been treated at the Department of Oral and Maxillofacial Surgery of the University of Hamburg. Forty-two patients presented periorbital and orbital neurofibromas varying in extension and in the severity of findings of the affected site. Surgical therapy is mainly based on tumour reduction, frequently combined with face-lifting. In our experience neurofibromas of the neck tend to be pseudo-encapsulated, facilitating the preparation of the tumour. On the other hand, identification and preparation of diffuse infiltrating neurofibromas in the trigeminal nerve region are difficult and local recurrence must be expected.Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease of high penetrance and variable expression. Epidemiologic data on craniofacial manifestations are still lacking. Up until now 74 patients with NF1 have been treated at the Department of Oral and Maxillofacial Surgery of the University of Hamburg. Forty-two patients presented periorbital and orbital neurofibromas varying in extension and in the severity of findings of the affected site. Surgical therapy is mainly based on tumour reduction, frequently combined with face-lifting. In our experience neurofibromas of the neck tend to be pseudo-encapsulated, facilitating the preparation of the tumour. On the other hand, identification and preparation of diffuse infiltrating neurofibromas in the trigeminal nerve region are difficult and local recurrence must be expected.