Abderrahmen Masmoudi

Old World cutaneous leishmaniasis: diagnosis and treatment

Cutaneous leishmaniasis is a major world health problem. Diagnosis is suspected on evocative clinical presentation in patients living in or coming from endemic areas. Several methods have been used. The smear is a simple investigation used in endemic regions. The culture enables to identify the specimen. PCR has a high sensitivity. Montenegros reaction is used in the epidemiological study. Pentavalent antimony derivatives remain the mainstay of systemic treatment. Their efficiency is well established. Their toxicity should be researched. Other treatments can be utilized, such as miltefosine. Local therapy is used in uncomplicated lesions. Injections of the pentavalent antimony derivate, cryotherapy and paromomycin ointmentsis are important options and should be used more frequently in Old World leishmaniasis.

Manifestations cutanées chez les hémodialysés chroniques: Étude prospective de 363 cas

Resume Objectif Les manifestations cutanees chez les hemodialyses chroniques sont frequentes et variees. Leur pathogenie est souvent hypothetique. Le but de ce travail est d’evaluer la prevalence et la nature de ces lesions cutanees et de discuter certains mecanismes pathogeniques. Methodes Cette etude prospective a ete realisee du 1erfevrier au 30 avril 1996. Elle a interesse 363 patients hemodialyses dans 7 centres. Chaque patient a eu un interrogatoire et un examen dermatologique. Resultats Il y avait 210 hommes et 153 femmes. L’âge moyen etait de 50,6 ans. La duree totale de l’hemodialyse a varie de 1 a 192 mois avec une moyenne de 52,4 mois. Quatre-vingt huit pour cent des patients etudies avaient des manifestations cutanees et 44,9 % un prurit. Il est apparu apres le debut de l’hemodialyse chez 82,1 % d’entre eux. La xerose cutanee a ete trouvee chez 69 % des patients. Les alterations de la pigmentation cutanee ont ete observees dans 17 % des cas, representees essentiellement par une hyperpigmentation des zones photoexposees. Chez 6 patients, un blondissement de la peau, des cheveux et des phaneres est survenu 10 mois a 8 ans apres le debut de l’hemodialyse. L’hyperkeratose folliculaire a ete constatee chez 15 % des patients. Une seule patiente avait une pseudomaladie de Kyrle confirmee. Les troubles des phaneres representes essentiellement par les ongles amincis et les hemorragies sous-ungueales ont ete notes dans 18,5 % des cas. Les autres manifestations cutanees ont ete les petechies ou les ecchymoses (66 %), les infections cutanees a type de folliculite (9 %), les calcifications sous-cutanees (2 cas), une pseudoporphyrie cutanee (2 cas), un eczema en regard de la fistule (11,5 %) du essentiellement aux produits appliques localement. Conclusion Les manifestations cutanees chez les hemodialyses chroniques sont frequentes et polymorphes. Si la plupart sont connues de longue date, certaines, en particulier le blondissement, sont de connaissance plus recente. Leur pathogenie est le plus souvent mal elucidee. Le traitement est souvent symptomatique. La dialyse et la greffe renale constituent le meilleur traitement. Voir aussi dans ce numero l’editorial de Gerard Guillet, Les signes cutanes chez les hemodialyses: des marqueurs predictifs de morbidite ou de mortalite?.p 377-8.OBJECTIVE Chronic hemodialysis patients experience frequent and varied cutaneous manifestations, of often hypothetical pathogenesis. The aim of this work is to assess the prevalence and nature of these cutaneous lesions and discuss some pathogenic mechanisms. METHODS This prospective study was conducted from 1 February through 30 April 1996. It included 363 hemodialysis patients in seven centers. Each patient was interviewed and examined. RESULTS There were 210 men and 153 women. Their mean age was 50.6 years. The total duration of hemodialysis ranged from 1 to 192 months, with a mean of 52.4 months. 88% of the patients had cutaneous manifestations. Pruritus was reported by 44.8%. It appeared after hemodialysis began for 82.1% of them. Cutaneous xerosis was observed in 69%. Changes in pigmentation were observed in 17% of cases, primarily involving hyperpigmentation of photo-exposed areas. In 6 patients, skin, hair, and exoskeleton began to turn lighter 10 months to 8 years after hemodialysis. Follicular hyperkeratosis was observed in 15%. One patient had a confirmed case of perforating follicular dermatosis. Disorders of the exoskeleton (18.5% of cases) were represented mainly by thin nails and subungual hemorrhages. Other cutaneous manifestations included petechiae and ecchymoses (66%), folliculitis-type infections (9%), subcutaneous calcifications (2 cases), cutaneous pseudoporphyria (2 cases), and eczema around the fistula (11.5%), due essentially to locally-applied products. CONCLUSION Cutaneous manifestations in chronic hemodialysis patients are frequent and polymorphous. While most have long been known, lightening of skin, in particular, others have been discovered more recently. Their pathogenesis is most often poorly elucidated. Treatment is often symptomatic. Dialysis and renal transplantation constitute the best treatment.

Cutaneous abnormalities in patients with end stage renal failure on chronic hemodialysis. A study of 458 patients.

BACKGROUND Cutaneous manifestations occurring in patients with end stage renal failure on hemodialysis are polymorphic and diverse. OBJECTIVE The aim of our study was to assess the prevalence and characteristics of different cutaneous manifestations in patients on hemodialysis. PATIENTS AND METHODS We led a transverse investigation of all patients on hemodialysis in 12 haemodialysis centres of Sfax (Tunisia). We examined 458 patients (254 men and 204 women). The hemodialysis history ranged from 6 months to 24 years. A total of 394/458 (86%) patients had cutaneous abnormalities. These included pruritus (56.6% of patients), paleness (60.7%), xerosis (52.8%), hyperpigmentation or hypopigmentation (38.4%), venous dilation near the fistula (22.2%), eczema in the fistula area (14.8%), half-and-half nails (13.5%), onychodystrophy (6.1%), subungual hemorrhage (4.5%), leukonychia (4.5%), stomatitis (5.6%), xerostomia (3.2%), gingivitis (2.4%), uremic breath (2.1%), and skin calcificatins (0.4%). Nephrogenic fibrosing dermopathy was not detected in any of our patients. CONCLUSIONS Pruritus, paleness, dry skin as well as hyperpigmentation and hypopigmentation are the most frequent skin abnormalities observed in hemodialysis patients. The early recognition of some cutaneous conditions associated with end stage renal failure and hemodialysis may allow early therapeutic intervention and decrease morbidity.

Catalase and Lipid Peroxidation Values in Serum of Tunisian Patients with Pemphigus Vulgaris and Foliaceus

Pemphigus is an autoimmune disorder resulting from the interaction between autoantibodies and desmoglein. Oxidative stress seems to be responsible for the onset/aggravation of many human diseases. Actually, it is considered as one of the several factors for the etiopathogenesis of pemphigus. The present study aims to evaluate the oxidative state in the sera of pemphigus vulgaris and pemphigus foliaceus patients by assessing lipid peroxidation, proteins oxidation, and antioxidant enzyme activity. This study included 36 pemphigus vulgaris and 42 pemphigus foliaceus patients as well as a group of controls consisting of 78 healthy volunteers. Malondialdehyde levels (p < 0.001) and catalase activity (p < 0.001) are higher in both groups of patients than in the control group. The two groups of patients showed a nonsignificant decrease in the thiol groups compared with the healthy one. A nonsignificant difference was shown between pemphigus vulgaris and pemphigus foliaceus patients, except for the catalase which shows an increase in the pemphigus vulgaris group. We have also found significant correlations between serum oxidative stress marker levels and serum anti-desmoglein antibody levels in the two pemphigus groups. These findings underline the implication of oxidative stress in the physiopathology of pemphigus by the increase in the autoantibodies’ reactivity.

Manifestations ophtalmologiques de la hyalinose cutanéo-muqueuse

Resume Introduction La hyalinose cutaneo-muqueuse (HCM) ou lipoproteinose d’Urbach-Wiethe est une affection rare a transmission autosomique recessive. Elle est caracterisee par un depot d’une substance hyaline au niveau de la peau et des muqueuses. Les manifestations ophtalmologiques sont frequentes pouvant conditionner le pronostic visuel. Observation Il s’agit d’une patiente âgee de 28 ans qui a eu des lesions vesiculo-bulleuses de la face evoluant vers des cicatrices varioliformes associees a un raucite de la voix. Elle avait une atteinte oculaire unilaterale gauche sous forme d’un depot hyalin limbique, irien et trabeculaire qui s’est complique d’une uveite, d’une cataracte et d’un glaucome ayant entraine la perte fonctionnelle de l’œil. L’etude histologique d’une biopsie cutanee concluait a une hyalinose cutaneo-muqueuse. Discussion L’atteinte palpebrale au cours de la hyalinose cutaneo-muqueuse est classique particulierement la blepharose moniliforme qui est pathognomonique. Ce cas se caracterisait par une atteinte intra-oculaire rare a type d’uveite. Par ailleurs, on peut trouver des depots corneo-conjonctivaux, trabeculaires ou au niveau de la membrane de Bruch. L’examen histologique des biopsies cutanee et/ou conjonctivale confirme le diagnostic. Les moyens therapeutiques sont assez limites.

Autoimmune reactivity against precursor form of desmoglein 1 in healthy Tunisians in the area of endemic pemphigus foliaceus

BACKGROUND Desmoglein 1 (Dsg1), the pemphigus foliaceus (PF) antigen, is produced as a precursor (preDsg1) and is transported to the cell surface as the mature form (matDsg1). Recent studies show that B cells from North American individuals without pemphigus can potentially produce anti-preDsg1 IgG antibodies, but ELISA screening of large numbers of normal people in North America and Japan hardly ever shows circulating antibodies against preDsg1 or matDsg1. In contrast, in Tunisia, where PF is endemic, anti-Dsg1 IgGs are frequently detected in healthy individuals. OBJECTIVE To characterize these anti-Dsg1 antibodies from normal individuals in Tunisia. METHODS Sera from 16 healthy individuals and 9 PF patients in the endemic PF area in Tunisia, and sera from Japanese non-endemic PF patients were analyzed by immunoprecipitation-immunoblotting using recombinant proteins of preDsg1, matDsg1, and domain-swapped Dsg1/Dsg2 molecules. RESULTS Sera from normal Tunisian individuals reacted to preDsg1 alone (8/16) or more strongly to preDsg1 than to matDsg1 (7/16), while those from all Tunisian PF patients and Japanese non-endemic PF patients reacted similarly to preDsg1 and matDsg1, or preferentially to matDsg1. The epitopes recognized by anti-Dsg1 IgGs from normal Tunisian individuals were more frequently found in the C-terminal extracellular domains (EC3 to EC5), while those in Tunisian endemic PF patients were more widely distributed throughout the extracellular domains, suggesting IgGs against EC1 and EC2 developed during disease progression. CONCLUSIONS These findings indicate that IgG autoantibodies against Dsg1 are mostly raised against preDsg1 and/or C-terminal domains of Dsg1 in healthy Tunisians in the endemic area of PF.

Sister Mary Joseph's nodule: report of five cases

Case 1 A 54‐year‐old woman presented with a 5‐month history of an asymptomatic, 2.5‐cm, erythematous, ulcerated nodule involving the umbilicus ( Fig. 1 ). Biopsy demonstrated metastatic adenocarcinoma ( Fig. 2 ) and abdominal ultrasound showed a large ovarian tumor ( Table 1 ). Further evaluation revealed pleural metastases.

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members

The Bloom syndrome (BS) is an autosomic recessive disorder comprising a wide range of abnormalities, including stunted growth, immunodeficiency, sun sensitivity and increased frequency of various types of cancer. Bloom syndrome cells display a high level of genetic instability, including a 10-fold increase in the sister chromatid exchanges (SCE) level. Bloom syndrome arises through mutations in both alleles of the BLM gene, which was identified as a member of the RecQ helicase family. In this study, we screened a Tunisian family with three BS patients. Cytogenetic analysis showed several chromosomal aberrations, and an approximately 14-fold elevated SCE frequency in BS cells. A significant increase in SCE frequency was observed in some family members but not reaching the BS patients values, leading to suggest that this could be due to the heterozygous profile. Microsatellite genotyping using four fluorescent dye-labeled microsatellite markers revealed evidence of linkage to BLM locus and the healthy members, sharing higher SCE frequency, showed heterozygous haplotypes as expected. Additionally, the direct BLM gene sequencing identified a novel homozygous frameshift mutation c.3617–3619delAA (p.K1207fsX9) in BS patients and a heterozygous BLM mutation in the family members with higher SCE frequency. Our findings suggest that this latter mutation likely leads to a reduced BLM activity explaining the homologous recombination repair defect and, therefore, the increase in SCE. Based on the present data, the screening of this mutation could contribute to the rapid diagnosis of BS. The genetic confirmation of the mutation in BLM gene provides crucial information for genetic counseling and prenatal diagnosis.

Atypical presentation of cutaneous leishmaniasis in a renal transplant recipient successfully treated with allopurinol and fluconazole.

Leishmaniasis is a zoonotic infection acquired through the bite of a female sandfly, which introduces the amastigotes of Leishmania into the bloodstream. Cutaneous leishmaniasis is rare after solid organ transplantation. Its diagnosis is difficult in immunosuppressed patients. We report a case of isolated cutaneous leishmaniasis in a renal transplant patient resident in an endemic area. The patient was successfully treated with allopurinol and fluconazole and has remained relapse-free for 44 months. The diagnosis of cutaneous leishmaniasis must be considered in immunosuppressed patients living in endemic areas. Our report shows that cutaneous leishmaniasis may complicate the clinical course of kidney transplant recipients and its presentation can be atypical. Conventional treatment with pentavalent antimonial agents can cause many side effects; of particular concern in renal transplant patients are pancreatitis and nephrotoxicity. These latter may be avoided by using a combination of allopurinol and fluconazole.

Clinical and laboratory findings in 8 patients with Bloom's syndrome

UNLABELLED Blooms syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of blooms syndrome observed during 20 years. RESULTS Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal. CONCLUSION Blooms syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory.