Publications (5)8.89 Total impact
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Article: Cutaneous carcinoma induced by radiotherapy: A report of 31 cases.
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ABSTRACT: Background: Depilatory radiotherapy was used in the sixties as a treatment for ringworm in Tunisia. Subsequently some of these patients developed radio-induced carcinomas of the scalp. aim: To present the epidemiological, clinical, pathological,therapeutic features and out come of radio-induced cutaneous carcinomas. methods: We conducted a retrospective study performed in the dermatology department of the La Rabta hospital of Tunis over a 6- year-period recording all histologically confirmed carcinomas in patients irradiated in childhood for tinea capitis. results: Thirty one patients were included with 49 tumors: 47 basal cell carcinomas and 2 squamous cell carcinomas. The average latent period between the irradiation and the appearance of the carcinomas was of 35.7 years. The average age was 53 years. A male predominance was noted, with a sex ratioM/F of 6.75. Clinically, basal cell carcinomas were nodular in all cases. Surgery was indicated in 90% of cases. Cryosurgery and radiotherapy were used respectively in 1 and 2 patients. Conclusion: Our study shows that radio-induced cutaneous carcinomas are widely dominated by basal cell carcinoma. They arise, approximately, ten years earlier than carcinoma in patients with no history of scalp irradiation. However X-ray exposure does not seem to influence clinical or histological presentation, therapeutic modalities nor prognosis of these tumors. The prognosis of radioinduced cutaneous carcinomas was globally similar to that of other cutaneous carcinomas with same histological type and equivalent degree of invasion.La Tunisie médicale 03/2013; 91(3):191-5. -
Article: Simvastatin-induced dermatomyositis in a 50-year-old man.
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ABSTRACT: Dermatomyositis (DM) is a rare inflammatory autoimmune disease for which an iatrogenic origin has been described in a few cases. The authors report a case of DM occurring after simvastatin intake. A 50-year-old male sought medical attention for a photodistributed rash and considerable muscular weakness present for 3 months. One year earlier, simvastatin had been introduced. Serum creatine kinase levels were elevated. Histological examination of a muscle biopsy was consistent with a diagnosis of DM. Investigation for neoplasia and associated autoimmune disease proved negative. All clinical and laboratory abnormalities diminished corticosteroid therapy (1 mg/kg/day). Case reports have suggested that lipid-lowering drugs, especially statins, could induce or reveal chronic muscle diseases. In statins myopathy, reduction of coenzyme Q has been discussed as a key mechanism. Our case of DM in a patient receiving simvastatin adds to the previous reported cases in the literature and highlights the potential role of statins as triggers of immune systemic diseases.Case Reports 01/2011; 2011. -
Article: Clinical and mutational heterogeneity of Darier disease in Tunisian families.
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ABSTRACT: To study the mutation spectrum and phenotype-genotype correlation of Darier disease (DD) in Tunisian patients. Case series. Referral center: Department of Dermatology (La Rabta Hospital), Tunis, Tunisia. Eight large Tunisian families with DD, with a total of 23 patients and 9 unaffected family members. Patients were investigated at the clinical, histological, and genetic levels. Families were genotyped with 5 microsatellite markers spanning the ATP2A2 gene. Mutation screening was performed by direct sequencing of the coding region and exon/intron boundaries of the ATP2A2 gene. Typical clinical features of DD were constantly present. Phenotypic variation within and between the studied families was observed. Different neuropsychiatric disorders were seen in 5 families, and various cutaneous and extracutaneous original clinical associations were observed. The haplotype analysis led to the identification of different haplotypes cosegregating with the disease in the studied families. Mutation screening of the ATP2A2 gene revealed 3 recurrent mutations (119-120delAG, R677X, and D702N) and 4 novel variations: 2 missense mutations (G217A and L900R), one microinsertion (2772-2779 ins C), and one microdeletion (1747-1749 del 2T). Our findings provide evidence for clinical and mutational heterogeneity of Tunisian families with DD. No obvious phenotype-genotype correlation was established. To our knowledge, this is the first molecular investigation of DD in the North African population.Archives of dermatology 07/2009; 145(6):654-6. · 4.76 Impact Factor -
Article: Immunohistological study of involucrin expression in Darier's disease skin.
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ABSTRACT: Darier's disease (DD) is an autosomal dominant skin disorder characterized by acantholysis and abnormal keratinization. The gene responsible for DD, ATP2A2 encodes for the sarco/endoplasmic reticulum (ER) Ca2+-ATPase isoform 2 protein. Involucrin, considered as a marker of terminal epidermal differentiation, could be altered in some keratinization disorders including DD. An immunohistochemical staining using anti-involucrin antibody was carried out on 16 DD patients epidermis. Involucrin staining was compared with biopsies from cutaneous lesions of three healthy individuals and of patients with Hailey-Hailey disease (five cases) and Mal de Meleda (four cases). A semi-quantitative analysis was performed in order to evaluate involucrin immunostaining on the basis of intensity, extension and epidermal distribution. The involucrin expression was examined afterward with confocal laser scanning microscopy. In contrast to normal skin, all DD cases showed premature expression of involucrin in the lower epidermal layers in four cases with a strong labeling in both keratinocytes cell membrane and cytoplasm. Other keratinization disorders share premature expression of involucrin but displayed differences in cytoplasm/cell membrane labeling. DD skin displayed a constant immunohistochemical involucrin pattern characterized by both premature expression and a particular cytoplasmic/cell membrane localization distribution.Journal of Cutaneous Pathology 08/2008; 35(7):635-40. · 1.56 Impact Factor -
Article: Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.
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ABSTRACT: Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene.Journal of Human Genetics 02/2006; 51(10):841-5. · 2.57 Impact Factor
