Service dOrl et de Chirurgie Maxillo faciale

Nabeul, Tunisia

Service dOrl et de Chirurgie Maxillo faciale

Nabeul, Tunisia
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Camuzard O.,Nice University Hospital Center | Rosello O.,Nice University Hospital Center | Maschi C.,Nice University Hospital Center | Castillo L.,Service dOrl et de Chirurgie Maxillo Faciale | And 4 more authors.
Revue de Laryngologie Otologie Rhinologie | Year: 2011

Melanotic Neuroectodermal Tumor of Infancy (MNTI) is a rare but distinct neoplastic entity in infancy. Diagnosis is usually made before the age of 12 months. The common clinical presentation is a rapidly growing mass of the pre-maxillary area. Its surface is unevenly pigmented. To affirm the diagnosis a biopsy is necessary. Few cases of malignancy have been described (5% of cases). Adequate surgical excision is the treatment of choice. Recurrence rate is about 10 to 15% within 5 years. We report in this article the case of a newborn with MNTI illustrating that an R0 surgical excision can be correlated to a favourable prognosis. In this case the 5 years follow up didn't show any local or distant recurrence.


PubMed | Institute Pasteur Paris, Tunis el Manar University, Institute Pasteur Of Tunis, French Institute of Health and Medical Research and Service dORL et de Chirurgie Maxillo faciale
Type: Journal Article | Journal: PloS one | Year: 2014

Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X), in LRTOMT, a missense mutation, c.5417T>C (p.L1806P), in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. We thereby provide evidence that whole exome sequencing is a powerful, cost-effective screening tool to identify mutations causing recessive deafness in consanguineous families.


Riahi Z.,Institute Pasteur Of Tunis | Riahi Z.,Tunis el Manar University | Hammami H.,Service dORL et de Chirurgie Maxillo Faciale | Ouragini H.,Institute Pasteur Of Tunis | And 14 more authors.
Gene | Year: 2013

Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to date. Mutations in GJB2 gene account for half of all cases of non-syndromic deafness. The aim of this study was to determine the relative frequency of GJB2 allele variants in Tunisia. In this study, we screened 138 patients with congenital hearing loss belonging to 131 families originating from different parts of Tunisia for mutations in GJB2 gene. GJB2 mutations were found in 39% of families (51/131). The most common mutation was c.35delG accounting for 35% of all cases (46/131). The second most frequent mutation was p.E47X present in 3.8% of families. Four identified mutations in our cohort have not been reported in Tunisia; p.V37I, c.235delC, p.G130A and the splice site mutation IVS1+1G>A (0.76%). These previously described mutations were detected only in families originating from Northern and not from other geographical regions in Tunisia. In conclusion we have confirmed the high frequency of c.35delG in Tunisia which represents 85.4% of all GJB2 mutant alleles. We have also extended the mutational spectrum of GJB2 gene in Tunisia and revealed a more pronounced allelic heterogeneity in the North compared to the rest of the country. © 2013 Elsevier B.V.


Riahi Z.,Institute Pasteur Of Tunis | Riahi Z.,Tunis el Manar University | Zainine R.,Service dORL et de Chirurgie Maxillo faciale | Mellouli Y.,Service dORL et de Chirurgie Maxillo faciale | And 10 more authors.
International Journal of Pediatric Otorhinolaryngology | Year: 2013

Objectives: Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The pathogenic mutations in this gene are generally inherited recessively. Dominant mutations in GJB2 also cause hearing loss, either in isolated non-syndromic form or as part of a syndrome associated with various skin disorders. Methods: We screened a Tunisian child affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. Results: The proband was found to be compound heterozygous for recessive and dominant GJB2 mutations respectively p.V37I (c.109G. >. A) and p.R143Q (c.428G. >. A). Surprisingly the hearing mother is a carrier for this dominant GJB2 mutation. This proband underwent a cochlear implant at four years old. The evaluation using APCEI and IT-MAIS tests at six months post implantation indicates a successful cochlear implant outcome since the deaf child began to acquire language abilities and auditory sensation. Conclusions: The p.R143Q mutation was described for the first time in Tunisia. We confirm the low penetrance of this mutation since the proband mother is a carrier despite her normal hearing. We show the effectiveness of cochlear implant to restore the communication abilities and auditory sensation for our patient. © 2013 Elsevier Ireland Ltd.


Ayachi K.,Service dOrl et de Chirurgie Maxillo faciale | Daoud R.,Service dOrl et de Chirurgie Maxillo faciale | Ben Youssef A.,Service dOrl et de Chirurgie Maxillo faciale | Ksibi K.,Service dOrl et de Chirurgie Maxillo faciale | And 2 more authors.
Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale | Year: 2013

Introduction Angiolymphoid hyperplasia with eosinophilia (HALE) is a rare, benign proliferative vascular disorder of unknown etiology which typically presents as tumor-like nodules of the skin or subcutaneous tissue. It concerns mostly young female adults. We report a case of HALE located on the ear auricle diagnosed by biopsy. The outcome was total regression. Observation An 81-year-old male patient presented with a lesion of the whole ear auricle. A diagnosis of HALE was confirmed histologically on biopsy. The evolution was marked by spontaneous and complete regression in 2 months. There was no recurrence after 1 year of follow-up. Discussion The etiology of this disease remains hypothetical. It poses real diagnostic problems with other types of proliferation, but its main differential diagnosis is Kimura disease. Its treatment has not been codified yet. Spontaneous regression is possible and justifies following the patient from 3 to 6 months, before a possible surgery. © 2013 Elsevier Masson SAS. All rights reserved.


Zainine R.,Service dORL et de Chirurgie Maxillo Faciale | Mizouni H.,Service de Radiologie | El Korbi A.,Service dORL et de Chirurgie Maxillo Faciale | Beltaief N.,Service dORL et de Chirurgie Maxillo Faciale | And 2 more authors.
European Annals of Otorhinolaryngology, Head and Neck Diseases | Year: 2013

Introduction: Maxillary bone myxoma is a rare benign mesenchymal tumor, slow-growing but locally aggressive. Pathogenesis remains disputed. Objective: To study the clinical, radiological and histological features and treatment of maxillary myxoma, based on a pediatric case report. Case report: An infant of two and a half months presented with endonasal tumor extending to ethmoid. Surgical excision was performed on an endonasal approach. Myxoma was diagnosed by histologic examination of the surgical specimen, whereas initial biopsy had suggested fibrous dysplasia. No recurrence was observed after two and a half years' surveillance. Conclusion: Positive diagnosis of maxillary myxoma is histological. Treatment is primarily surgical. Strict long-term surveillance is required because of the high risk of recurrence. © 2013.


Kamal D.,Service dOrl et de Chirurgie Maxillo Faciale | Froget N.,Center Hospitalier Lyon Sud | Breton P.,Center Hospitalier Lyon Sud | Beziat J.-L.,Service de Chirurgie Maxillo Faciale | Gleizal A.,Service de Chirurgie Maxillo Faciale
Revue de Stomatologie et de Chirurgie Maxillo-Faciale | Year: 2012

The main morphological sequels of zygomatic bone fractures are lack of zygomatic projection and enopthalmia. They may be corrected by zygomatic osteotomy which is a difficult operation because of modified anatomic landmarks. Onlay bone or alloplastic grafts are preferred. Technical note: Zygomatic osteotomies are performed through three surgical approaches: superior palpebral, sub-ciliary, and upper vestibular, followed by repositioning with osteosynthesis micro-plates. They allow reconstruction with an adequate projection in three dimensions. Surgery is usually associated with a bone graft of the orbital floor. Discussion: Zygomatic osteotomy is a simple, reproducible technique, but it requires a good bone exposure. The esthetic results are satisfactory with an uneventful outcome. This surgical procedure is a good alternative to isolated techniques of autologous bone grafting or alloplastic material reconstruction which have sometimes disappointing and short lasting results due to graft resorption. © 2012 Elsevier Masson SAS. All rights reserved.


PubMed | Service dORL et de Chirurgie Maxillo Faciale
Type: | Journal: Case reports in otolaryngology | Year: 2012

Nasopharyngeal actinomycosis is a rarely encountered bacterial infection which usually occurs after nasal trauma or surgery. In some clinical cases, nasopharyngeal actinomycosis has appeared in patients without prior trauma, making diagnosis difficult. Here we present three such cases successfully treated with appropriate dosages of penicillin. One 16-year-old boy with no previous medical antecedents showed an important thickening of the posterior wall of the nasopharynx. A similar nasopharyngeal thickening was found in a 42-year-old woman exhibiting poor dental hygiene. In another 42-year-old woman, nasopharyngeal inflammation was accompanied by multiple right lymphoadenopathies. Like the first two patients, the woman had no prior trauma but did exhibit poor dental hygiene and teeth rottenness. In all three patients, actinomycosis diagnosis was confirmed by anaerobic microbial culturing of the biopsy specimen. Although diagnosis is delayed in patients with no prior trauma, treatment with antibiotics has greatly improved the prognosis for all forms of actinomycosis, and neither death nor deformity is common.


PubMed | Service dORL et de chirurgie maxillo faciale
Type: Journal Article | Journal: Revue de stomatologie et de chirurgie maxillo-faciale | Year: 2012

The main morphological sequels of zygomatic bone fractures are lack of zygomatic projection and enopthalmia. They may be corrected by zygomatic osteotomy which is a difficult operation because of modified anatomic landmarks. Onlay bone or alloplastic grafts are preferred.Zygomatic osteotomies are performed through three surgical approaches: superior palpebral, sub-ciliary, and upper vestibular, followed by repositioning with osteosynthesis micro-plates. They allow reconstruction with an adequate projection in three dimensions. Surgery is usually associated with a bone graft of the orbital floor.Zygomatic osteotomy is a simple, reproducible technique, but it requires a good bone exposure. The esthetic results are satisfactory with an uneventful outcome. This surgical procedure is a good alternative to isolated techniques of autologous bone grafting or alloplastic material reconstruction which have sometimes disappointing and short lasting results due to graft resorption.


PubMed | Service dORL et de chirurgie maxillo faciale
Type: Case Reports | Journal: Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale | Year: 2013

Angiolymphoid hyperplasia with eosinophilia (HALE) is a rare, benign proliferative vascular disorder of unknown etiology which typically presents as tumor-like nodules of the skin or subcutaneous tissue. It concerns mostly young female adults. We report a case of HALE located on the ear auricle diagnosed by biopsy. The outcome was total regression.An 81-year-old male patient presented with a lesion of the whole ear auricle. A diagnosis of HALE was confirmed histologically on biopsy. The evolution was marked by spontaneous and complete regression in 2 months. There was no recurrence after 1 year of follow-up.The etiology of this disease remains hypothetical. It poses real diagnostic problems with other types of proliferation, but its main differential diagnosis is Kimura disease. Its treatment has not been codified yet. Spontaneous regression is possible and justifies following the patient from 3 to 6 months, before a possible surgery.

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