Carcinome épidermoïde conjonctival invasif: à propos de 2 cas / Invasive squamous cell carcinoma: about 2 cases

Les tumeurs conjonctivales sont fréquentes dans les zones tropicales,où l'exposition aux rayons ultraviolets est forte et quasi permanente. Les tumeurs malignes sont assez rares et la plus représentée est le carcinome épidermoïde de la conjonctive.Nous rapportons deux cas de carcinome épidermoïde invasif de la conjonctive reçus dans le service d'ophtalmologie de l'hôpital Sominé Dolo de Mopti au Mali. Il s'agissait de deux patientes de 25 et 51 ans, vivant en zone rurale et désertique exposées aux rayons solaires et à la poussière. Elles présentaient une masse développée dans l'aire de la fente palpébrale, envahissant la cornée et empêchant l'occlusion palpébrale. La masse était en relief, multi lobulée, bien circonscrite, de couleur blanc nacré et d'aspect papillomateux avec une dilatation des vaisseaux nourriciers. Une exérèse chirurgicale large à 4 - 5 mm des berges de tissu sain a été réalisée avec examen anatomopathologique de la pièce qui a confirmé un carcinome épidermoïde différencié mature et invasif de la conjonctive. Le bilan d'extension et la sérologie HIV étaient négatifs. L'évolution était favorable à moyen terme sans récidive

Conjunctival tumors are common in tropical areas, where exposure to ultraviolet radiation is high and almost permanent. Malignant tumors are quite rare and the most represented is conjunctival squamous cell carcinoma. We report two cases of invasive squamous cell carcinoma of the conjunctiva received in the ophthalmology department of the Sominé Dolo hospital in Mopti, Mali. The patients were 25 and 51 years old, living in a rural desert area exposed to sunlight and dust. They presented with a mass developed in the area of the palpebral fissure, invading the cornea and preventing palpebral occlusion. The mass was raised, multi-lobulated, well circumscribed, pearly white in color and papillomatous in appearance with dilation of the feeder vessels. A wide surgical excision at 4 - 5 mm from the healthy tissue edges was performed with anatomopathological examination of the specimen, which confirmed a mature and invasive differentiated squamous cell carcinoma of the conjunctiva. The extension workup and HIV serology were negative. The evolution was favorable in the medium term without recurrence

Fanconi Anaemia in South African Patients with Afrikaner Ancestry

Background. Fanconi anaemia (FA) is a rare genetic disorder of impaired DNA repair that results in physical and haematological consequences in affected individuals. In South Africa (SA), individuals with Afrikaner ancestry are at an increased risk of inheriting disease-causing FA mutations, owing to the three common FANCA (FA, complementation group A) founder mutations present in this population subgroup.Objectives. To describe the physical phenotype of SA patients with FANCA mutations for the purpose of recommending appropriate care for affected individuals.Methods. A structured clinical examination and file-based review were used to evaluate the physical phenotype of 7 patients with compound heterozygous and homozygous FANCA founder mutations, and 1 patient with confirmed FANCA complementation analysis. Descriptive statistical analysis was used to determine the frequency of physical anomalies in Afrikaner patients and to compare the described phenotype to other FA cohorts, including a previously clinically characterised black SA FA cohort.Results. An earlier age of diagnosis of FA in Afrikaner patients, a high frequency of somatic anomalies and a higher-than-expected incidence of the VACTERL/H phenotype were noted.Conclusions. Based on our findings, recommendations for the care of FA patients with Afrikaner ancestry are made, including renal ultrasound evaluation at diagnosis and hearing screening