Secondary desmoplastic fibroma-like tissue changes in mandibular fibrous dysplasia: clinicopathological and molecular study of a case.

Fibrous dysplasia may show locally aggressive behaviour reflecting secondary intralesional changes, extension to soft tissue, or malignant transformation. We report the case of a patient with polyostotic fibrous dysplasia who had a giant mandibular lesion consisting of histologically typical, genotypically-confirmed, fibrous dysplasia merged with a fibrotic and hypocellular desmoplastic fibroma-like tissue in which the same Gsα-R201H mutation was detected. The occurrence of the same mutation in both the fibrous dysplasia and areas of desmoplastic fibroma suggests that the fibroma-like tissue reflects an unusual secondary tissue change within an otherwise typical fibrous dysplasia. To the best of our knowledge, only four cases of fibrous dysplasia with desmoplastic fibroma-like tissue changes have been reported.

Our experience in the surgical management of craniofacial fibrous dysplasia: what has changed in the last 10 years?

The mainstay of treatment of craniofacial dysplasia (CFD) remains surgery once clinical observation has been excluded. Nevertheless, disagreement remains about the type of surgical intervention (remodelling versus radical resection). The aim of this paper is to present our experience until 2013 comparing CFD management between 1980 and 2002 and between 2003 and 2013 and to propose our surgical algorithm. From January 2003 to December 2013, 41 new patients (18 males and 23 females) with histologically demonstrated CFD presented to our Department. Data were compared with those of 95 patients observed and/or treated between 1980 and 2002. Considering the last period, we noted that observation (26/41 patients) was the most used method; radical resection was performed in most cases (8/15 patients), but in proportion the numbers of patients undergoing bone shaving has increased (6% between 1980 and 2002 vs 15% between 2003 and 2013), while a decrease in the number of patients undergoing excision was seen (63% between 1980 and 2002 vs. 19% between 2003 and 2013). On this basis, we believe that radical resection is the only technique to obtain resolution of fibrous dysplasia. Wait-and-see is indicated in case of stable lesions. Reconstructive techniques allow obtaining adequate aesthetical and functional results; nevertheless, in most cases adjunctive surgical refinements are required and recovery time is higher than with surgical shaving, so that most patients prefer to perform remodelling. Nevertheless, in case of aggressive lesions radical resection is mandatory, except in paediatric patients with residual large defects in which it can be acceptable to try to resolve symptoms via bone shaving, reserving more aggressive treatments in case of relapse or after skeletal maturity.

Two clinical cases of prosthetical rehabilitation after a tumor of the upper maxilla.

The most frequent type of treatment for patients diagnosed with a malignant neoplasia of the oral cavity is surgical removal of the tumor. As a result of the resection performed, it is difficult to obtain satisfactory results in the oral rehabilitation of these patients. When possible, fixed prostheses are the best option, because they guarantee stability, but they should be made so that the operator can remove them periodically to check the health of the oral tissues underneath and to intercept any relapse of the tumor. This study analyses two cases of patients surgically treated for a tumor of the upper maxilla at the Oral and Maxillo-Facial Surgery of Sapienza University, in Rome. In the first case the surgical site was covered with local flaps, and the patient was rehabilitated with an implant-supported removable prosthesis. In the second case the maxilla was reconstructed with a fibula vascularized free flap, and the patient was rehabilitated with an implant-supported prosthesis screwed to a titanium bar solidarizing the implants. Therefore, this prosthesis was fixed, but could be removed by the dentist. The different approach to these two cases was influenced by the different anatomic situations after the reconstruction. It is important for the dentist to approach these patients knowing the kind of surgery they received because this aspect will influence rehabilitative choices. Rehabilitation should be planned, when possible, before surgical treatment, in order to cooperate with the maxillo-facial surgeon in choosing the most appropriate restorative treatment.

Intra-parotid facial nerve multiple plexiform neurofibroma in patient with NF1.

INTRODUCTION: Primary neurogenic tumours of facial nerve are uncommon with the majority found intra-temporally. Intracranial and intra-parotid neoplastic involvement of cranial nerve VII is much less common. There are 11 reported cases, in the English-language literature, of intra-parotid facial nerve plexiform neurofibromas with eight of them associated with NF1. MATERIALS AND METHODS: A child, 10 years old, with NF1, reached us for a cheek swelling, slowly increased in previous 8 years. At the age of 3 years, a plexiform neurofibroma was diagnosed by biopsy of the lesion. Clinical examination and NMR showed in the sub-cutaneous tissue of the right cheek, two contiguous nodular lesions, about 2 cm x 1.5 cm in diameter; a third neoformed lesion, about 1cm in diameter, was located above the ipsilateral labial commissure. No facial nerve impairment was seen. The patient underwent superficial parotidectomy with removal of the lesions and preservation of the facial nerve. RESULTS: The patient had a considerable regional swelling in the immediate post-operative course; no facial nerve impairment was observed. The swelling of the cheek did not show a fully regression in the post-operative course. Ultrasonography at 3 months showed a recurrence of disease. DISCUSSION: Plexiform neurofibromas should be distinguished due to their risk of malignant transformation seen in up to 15% of patients affected by NF1. Surgery is the only effective option currently available for the treatment of PNF. However, success of surgical intervention is limited by the infiltrating nature of the tumours, resulting in a high rate of tumour re-growth. Facial nerve preservation during surgery is unlikely and significant morbidity can result from their excision. The age of the patient at surgical resection seemed to influence outcome: tumours resected before age 10 years recurred in 60% of cases compared with only 30% recurrence in patients older than the age of 10 years. CONCLUSION: Indication and timing of surgery, in paediatrics patients with NF1, are complex. To avoid eventual physical and psychological consequences, it seems prudent to delay surgery as long as it is feasible for otherwise asymptomatic paediatric patients with facial plexiform neurofibroma.

Subnasal modified Le Fort I for nasolabial aesthetics improvement.

We report our experience with a modified Le Fort I osteotomy developed to avoid nasal tip upturning, alar base widening, and upper lip flattening in anterosuperior repositioning of the maxilla. We compare the aesthetic results obtained with this variation of the surgical technique to those obtained using the more traditional Le Fort I osteotomy combined with the alar cinch suture and the anterior nasal spine reduction procedures on a sample of 20 patients.

Study and planning of the surgical procedure for the orbital district in patients affected by craniofacial malformations.

Orbital surgery is of critical importance within the framework of craniofacial surgery. The conical conformation of orbits requires analysis and surgical procedure planning methods involving all three dimensions. We present our protocol for the analysis and our three-dimensional surgical procedure plan to treat orbital malformations using teleradiography and two- and three-dimensional computed tomographic imaging. A number of clinical cases treated according to this approach are also presented.

Dental agenesis in hemifacial microsomia.

Hemifacial microsomia (HM) is an asymmetrical congenital deformity of the head and face caused by anomalous development of the structures derived from the first and second branchial arches. This study evaluates the incidence of agenesis and dental inclusions in HM patients. Sixty-three HM patients, 27 male and 36 female, ranging from 7 to 43 years had monolateral (61) and bilateral (2) presentation. From clinical examination, photographs, and various radiographs, the following manifestations were noted: 11 patients had tooth agenesis with at least one on affected side and 5 patients had dental inclusions. The greater the severity of HM, the greater likelihood of agenesis. Third molars were most commonly missing. Dental inclusions did not show a relationship to severity.

[Maxillo-mandibular fracture outcome. Therapeutic program]. / Esiti di fratture maxillo-mandibolari. Programmazione terapeutica.

The ill-consolidated outcomes of the maxillo and jaw fractures often show ill-positions of the mandible and/or of the jaw in the three space-levels. In order to program a suitable surgical correction of such pathologic pictures it is necessary to make a cephalometric test and a gnathologic one. The result of these tests will guide the therapeutical choise which will be either the re-opening of the surgical treatment to be effected through the usual osteotomy of the mandible.