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Male patient, 51 years old, with a medical history of bilateral inguinal hernia, craniocelebral trauma with residual epilepsy and neurofibromatosis type 1 and proptosis of the right ocular globe, attended our department as a result of inflammation over four days in the right half of his face. There was no history of a previous infectious-inflammatory process in the cervico-facial region or of local traumatism. The examination revealed a soft-solid non-fluctuating mass that had a diameter of about 10 cm, which was located on the right submandibular half of his face (Fig. 1). There were no signs of fever, erythema or of a general wasting syndrome. The hemogram tests did not show any alterations of interest, nor did the patient shown any symptoms attributable to tooth ache. The examination of the oral cavity and oropharynx by fiberscope were entirely normal.

An echography of his face and neck was carried out and a mass with well-defined borders was observed. It had solid echographic characteristics that showed a central tubular projection towards the nasogenian fold, also with low frequency echoes in its interior. The computed tomography (CAT) cervicofacial image was of a mass with well-defined borders with a lobulated outline. It was hyperdense (70 Hounsfield units) and in some areas it had a tubular serpiginous appearance. It had a submaxillary location in the lower middle area of the right side of his face (Fig. 2). The post-contrast study showed a structure with a serpiginous pattern that was extending towards the nasogenian fold and lower orbital border. With regard to the underlying pathology, orbital dysplasia could be observed towards the right side and severe hypoplasia of the major wing and body of the sphenoid, as well as dysplastic changes in bone with ample defects in the bone structures of the calotte. Proptosis with a pronounced displacement of the globe forwards and downwards as a result of the temporal lobe extending was also observed together with an arachnoid cyst associated with a calotte bone defect. Both extracranial internal carotid arteries showed no morphological change that could be appreciated.

Nuclear magnetic resonance (NMR) showed a thickening of the extracranial soft tissue that was affecting the skin and the frontal, temporal and occipital areas on the right side and that extended towards the orbital tissues, especially towards the upper eyelid and caudally towards the facial area. It extended inwards and medially to the extracranial subtemporal space and the masticatory muscles and right parotid gland were affected. In the facial area and right submaxillary area, a mass that measured 7.3 x 5.3 cm could be seen in front of the sternocleidomastoid muscle and lateral to the submaxillary gland, that was extending cranially towards the nasogenian fold. The mass had a serpiginous tubular pattern with well-defined borders, and the adjacent layers of fat had clearly not been infiltrated (Fig. 3 and 4). The signal was predominantly hypointense on T1- weighted images, somewhat heterogeneous with some components that were slightly hyperintense, and hypointense on T2- weighted images. In the post-contrast image peripheral contrast could be observed.

R. González-García¹, J. Sastre-Pérez², V. Escorial-Hernández¹, P.L. Martos¹, M. Mancha de la Plata¹, 
M.F. Muñoz-Guerra², F.J. Rodríguez-Campo, L. Naval-Gías², F.J. Díaz-González³

1 Médico residente
2 Médico adjunto
3 Jefe de servicio
Servicio de Cirugía Oral y Maxilofacial.
Hospital Universitario La Princesa, Madrid. España

Correspondence

The radiological findings suggested that the most likely diagnosis was dilated and thrombotic vascular structures associated with extensive plexiform neurofibroma. As the process had stabilized, conservative treatment was decided upon. After two months, there was complete regression of the hemifacial mass as a result of the thrombotic process, with persistence of the mass due to the plexiform neurofibroma. The patient was totally asymptomatic.

Neurofibromatosis Type 1 was first described in 1882 by von Recklinghausen.¹ With an incidence of approximately 1 per 3,000 live births, it is characterized by the presence of generalized meso-ectodermal dysplasia affecting the skin (café-au-lait spots, neurofibromas), peripheral nervous system (neurofibromas, schwannomas), central nervous system (hematomas, gliomas), meningeal covering (dural ectasia, meningocele) skeletal system (pseudoarthrosis, scoliosis, sphenoid dysplasia, widening of the cranial orifices, hypoplasia and rarely hyperplasia of the mandible and zygomatic arch, anomalies of the temporal bone), cardiovascular and endocrine systems (pheochromocytoma).^2,3 The lesions of the head and neck can present as asymptomatic masses, and its more extreme form as elephantiasis neurofibromatosa, or as space-occupying lesions that have an oppressive effect on craniofacial bones and underlying structures.⁴ The presence of these massive tumor-like masses, although asymptomatic, may cause a severe restriction of ocular function and of the facial and buccal muscle groups, in addition to the associated facial disfiguration that is socially unacceptable. The possibility of malignant transformation to sarcoma is between 4.6 and 12% depending on the series.^5,6

The characteristic presentation reported is of the formation of vascular fistulas and aneurysms of a mediumto- large size associated with occlusion, stenosis and vessel rupture.^7,8 These anomalies have been described in different localizations. Renal arterial stenosis is the most common vascular lesion. Vascular brain, neck and gastrointestinal lesions are very uncommon. Within the vascular lesions of the head and neck, arterial cervicocerebral stenosis, intracranial aneurysms, cerebral arteriovenous malformations and cervical arteriovenous fistulas have been described.⁹ The presence of anomalous arteriovenous communication seems to have a congenital origin, as a result of the rupture of a pre-existing aneurysm or the direct rupture of an artery in adjacent veins.¹⁰ Three etiopathogenic mechanisms responsible for the formation of vascular arterial anomalies in neurofibromatosis have been described: 1) proliferation of smooth muscle cells in the intimal layer leading to vascular lumen obstruction, 2) fibro-hyaline thickening of the intimal layer with fragmentation of the elastic and muscular layer leading to aneurysmal dilation of the vessel wall, and 3) fusocellular nodularity compromising the strength and integrity of the vascular wall. The presence of vascular anomalies can explain the tendency for thrombosis and hemorrhages as a result of vascular ruptures observed in these patients, as was found in the case presented. With regard to the vertebral system, extracranial vascular malformations have been reported, though infrequently, generally of a fistulous type.^10,11 However, to our knowledge, there has been no previous case reported in the literature of thrombosis due to vascular malformation in the anterior or anterolateral cervical region.

Yilmaz et al.³ reported that the existence of preoperative clinical signs indicating the presence of vascular malformations associated with neurofibromatosis was infrequent. This is in contrast with the rapid hemifacial growth over the pre-existing neurofibromatous mass observed in our patient. The absence of a pulsating mass permitted ruling out the presence of an active arteriovenous fistula, and the CAT and MR images confirmed the presence of dilated and tortuous vascular structures in the middle of the neurofibromatous mass with associated vascular thrombosis in relation with the jugular venous system. Given this etiopathogenic base, the rapid onset of the clinical features observed could be explained.

With regard to the surgical management of neurofibromas, the association of these vascular anomalies should be kept in mind precisely because of the inherent fragility of these vascular structures, which tend to bleed easily and copiously during surgical interventions. It has been suggested, and not in vain, that an angiography should be carried out during the preoperative stage in order to ascertain the exact range of these lesions. Moreover, embolization prior to surgery has been suggested in order to avoid intraoperative hemorrhaging,³ although if the vessels are very dilated and tortuous this may fail. In a parallel fashion, carrying out an angiography and superselective embolization for treating vascular neurofibromas has been shown to be of little use if there is no associated resective surgery, due to the rapid revascularization of these tumors.¹¹

Although the surgical management by excision is desirable for treating neurofibromatous masses of the head and neck, a rigorous preoperative following of any associated vascular anomaly is necessary, in order to avoid or diminish the risk of complications because of hemorrhaging during the surgical intervention. Nevertheless, we believe that the instauration of a thrombotic process associated with a cervical vascular anomaly in the middle of a neurofibroma, can be conservatively treated, if there is no associated airway compromise. The anterolateral cervical localization of the thrombotic process should lead us to rule this out and to carry out a close following of the patient, preferably on an in-patient basis during the initial stages. After a few weeks and once the process has been resolved, the correct evaluation of the size and extension of the neurofibromatous mass can be carried out, as well as proper planning of the approach and the surgical resection.

Correspondence:
Raúl González García
c/ Los Yebenes 35, 8 C. 
28047 Madrid, España
Email: raugg@mixmail.com

References

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