Les Mélanomes Malins Nasosinusiens

Le mélanome malin nasosinusien est une tumeur rare prenant naissance au niveau des mélanocytes de la muqueuse respiratoire. Les auteurs rapportent deux observations de mélanomes malins nasosinusiens suivis et traités au service d\'ORL et de CCF de l\'hôpital Habib Thameur entre 1999 et 2005. Il s\'agit d\'un homme et d\'une femme âgés respectivement de 62 et 68 ans. La symptomatologie clinique est dominée par l\'obstruction nasale et l\'épistaxis. Le diagnostic est histologique après biopsie de la tumeur. Le traitement chirurgical est suivi d\'une radiothérapie externe dans les deux cas. L\'évolution est marquée par une récidive tumorale dans un cas. Primary mucosal melanoma of the nasal cavity and paranasal sinuses is an uncommun clinical entity occurring on the level of the melanocytes respiratory mucous membrane. The authors report two observations of malignant melanoma of sinonasal mucosa treated between 1999 and 2005. It acts of an old man and a woman respectively 62 and 68 years old, both presented with nasal obstruction and epistaxis. The diagnosis was histological after biopsy of the tumour. The surgical treatment was followed of an external radiotherapy in both cases. The evolution was marked by a local recurrence in one case. Journal Tunisien d\'ORL et de chirurgie cervico-faciale Vol. 16 2006: pp. 50-5

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.

Purpose: We report the clinical features and the mutational analysis in a large Tunisian family with granular corneal dystrophy type I (GCD1). Patients and Methods: Thirty-three members of the Tunisian family underwent a complete ophthalmologic examination. DNA extraction and direct Sanger sequencing of the exons 4 and 12 of transforming growth factor β Induced (TGFBI) gene was performed for 42 members. For the molecular modeling of TGFBI protein, we used pGenTHREADER method to identify templates, 3D-EXPRESSO program to align sequences, MODELLER to get a homology model for the FAS1 (fasciclin-like) domains and finally NOMAD-ref web server for the energy minimization. Results: The diagnosis of GCD1 was clinically and genetically confirmed. Sequencing of exon 4 of TGFBI gene revealed the p.[R124S] mutation at heterozygous and homozygous states in patients with different clinical severities. Visual acuity was severely affected in the homozygous patients leading to a first penetrating keratoplasty. Recurrence occurred rapidly, began in the seat of the corneal stitches and remained superficial up to 40 years after the graft. For heterozygous cases, visual acuity ranged from 6/10 to 10/10. Corneal opacities were deeper and predominating in the stromal center. According to bioinformatic analysis, this mutation likely perturbs the protein physicochemical properties and reduces its solubility without structural modification. Conclusions: Our study describes for the first time phenotype-genotype correlation in a large Tunisian family with GCDI and illustrates for the first time clinical and histopathological presentation of homozygous p.[R124S] mutation. These results help to understand pathophysiology of the disease