Failure to find evidence for deletion of LCE3C and LCE3B genes at PSORS4 contributing to psoriasis susceptibility in Tunisian families.

BACKGROUND: Recently, it has been shown that a deletion in the late cornified envelope (LCE) gene cluster (LCE3C_LCE3B-del) is associated with susceptibility to psoriasis in European and Asian populations. However, no study of this deletion has been performed in the North African population. The aim of the present study was to investigate whether this deletion is associated with familial psoriasis in Tunisian population. METHODS: A total of 34 patients and 55 healthy individuals were recruited from 7 multiplex families and a PCR assay was used to determine the association of this deletion. Its effect on susceptibility to psoriasis was assessed using the PDT program. RESULTS: We failed to detect any evidence of association between LCE3C_LCE3B-del and psoriasis in Tunisian families. No epistasic effect was found between the deletion and PSORS1 locus. CONCLUSIONS: These findings indicate that the LCE3C_LCE3B-del does not contribute in a major way to psoriasis susceptibility in Tunisian families.

A multicenter, randomized, open-label, controlled study comparing the efficacy, safety and cost-effectiveness of a sequential therapy with RV4104A ointment, ciclopiroxolamine cream and ciclopirox film-forming solution with amorolfine nail lacquer alone in dermatophytic onychomycosis.

BACKGROUND: The efficacy of topical antifungals is controversial. OBJECTIVE: To compare the efficacy and safety of a sequential(SEQ) treatment with chemical nail avulsion and topical antifungals to amorolfine nail lacquer in dermatophytic onychomycosis. METHODS: This was a randomized,parallel-group, controlled study comparing a 36-week SEQ treatment with chemical nail avulsion with RV4104A ointment(class I medical device containing 40% urea) followed by ciclopirox cream for 8 weeks and ciclopirox nail lacquer for 25 weeks (SEQ group) to amorolfine nail lacquer for 36 weeks (AMO group). Patients had to have a big toenail onychomycosis,sparing the matrix. The primary efficacy criterion was complete cure at week 48. A cost-effectiveness analysis was performed. RESULTS: A total of 142 patients were randomized. The complete cure rate at week 48 was significantly higher in the SEQ group than in the AMO group (36.6 vs. 12.7%, p = 0.001). Clinical cure at week 48 was observed in 53.5% of patients in the SEQ group versus 17% in the AMO group (p < 0.01). The cost of cure per patient was 50% lower with SEQ treatment (EUR 33) compared with amorolfine(EUR 76). CONCLUSION: A treatment of onychomycosis comprising chemical avulsion of the pathological nail, ciclopirox cream and nail lacquer is significantly more effective than amorolfine nail lacquer.

Cutaneous tuberculosis in Tunisia.

INTRODUCTION: Tuberculosis is endemic in Tunisia. Pulmonary tuberculosis is the most common presentation in our country. Cutaneous presentations are rare (1-2% of cases). The diagnosis of cutaneous tuberculosis (CT) is difficult. Histological and clinical presentations are polymorphous, many differential diagnoses are available, and it is difficult to isolate Mycobacterium. OBJECTIVE: We had for aim to study the epidemiological and clinical features of CT in Tunisia, and to compare presentations before and after 1990. PATIENTS AND METHODS: We conducted a retrospective study between January 1991 and December 2011, in which we included all cases of CT observed at the Infectious Diseases and Dermatology Units of the Tunis la Rabta Hospital. RESULTS: Hundred and thirty-seven patients were included, with a mean age of 43.8years; 72.3% were female patients. Hundred and fifty locations were observed, most of which on the head and neck. Scrofuloderma was the most frequent presentation, observed in 65% of cases. The diagnosis was confirmed by histology and/or microbiology in 75.8% of cases. The treatment was prescribed for a mean 11.3months, leading to full recovery in most cases. CONCLUSION: CT is still reported in Tunisia. The diagnosis relies mainly on histology. Controlling this mutilating tuberculosis requires a global control of this disease, and especially lymph node location, given the high rate of scrofuloderma.

[Primary cutaneous osteosarcoma]. / Ostéosarcome cutané primitif.

BACKGROUND: Osteosarcoma is a malignant tumor of mesenchymatous origin that chiefly affects the metaphysis of long bones. The extraskeletal form of the disease is rare, and even rarer is a cutaneous site, whether metastatic or primary. Herein, we report a new case of primary cutaneous osteosarcoma. PATIENTS AND METHODS: A 54-year-old woman presented a hard subcutaneous nodular tumor on her left arm noted 1 year earlier. The diagnosis of cutaneous osteosarcoma was made on the basis of histological analysis of the lesion, which showed a sarcomatous dermal-hypodermal proliferation secreting osteoid. Clinical and radiological staging ruled out any extra-cutaneous spread, particularly to bone, thus confirming the primary cutaneous nature of the osteosarcoma. DISCUSSION: Primary cutaneous osteosarcoma is a rare tumor, diagnosis of which is normally based on histopathological features.

Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families.

BACKGROUND: Psoriasis is a relapsing chronic inflammatory skin disease affecting all population groups, with a peak prevalence of 3% in northern European and Scandinavian caucasians. Epidemiological studies have implicated a genetic component to psoriasis. In the past 12 years multiple genome-wide linkage analyses have identified putative susceptibility loci on several chromosomes, with a major locus in the major histocompatibility complex region. OBJECTIVES: To investigate the genetic basis of familial psoriasis in the Tunisian population using a genome-wide linkage scan in seven ultiplex psoriatic families from Tunisia. METHODS: Following single nucleotide polymorphism (SNP) genotyping on the Affymetrix 10K SNP array, we performed nonparametric linkage (NPL) multipoint analyses to identify genotypes and obtain evidence for linkage with psoriasis across the genome. RESULTS: No chromosomal region gave consistent evidence for linkage, providing evidence for genetic heterogeneity in Tunisian psoriasis families. Significant evidence for linkage of psoriasis to chromosome 2p12 was seen in one family. We also identified several regions of tentative psoriasis linkage on chromosomes 2q, 4q, 6p, 11q, 12q, 9q and 13q. One family exhibiting suggestive evidence for linkage to 17q25 (PSORS2) was identified and all affected members harboured a p.Gly117Ser mutation in CARD14 (caspase recruitment domain family, member 14), recently reported to lead to psoriasis in a large family from the U.S.A. CONCLUSIONS: Our results support the genetic heterogeneity of psoriasis in the Tunisian population, provide confirmatory evidence for a novel psoriasis locus at chromosome 2p12 and reveal a psoriasis family with a mutation at PSORS2.

[Tuberculosis of the breast: a rare often unrecognized diagnosis]. / La tuberculose mammaire: un diagnostic rare, souvent méconnu.

UNLABELLED: Tuberculosis of the breast (BT) is a rare extrapulmonary localization for tuberculosis that mainly affects young women during their child-bearing years. OBJECTIVE: We report eight cases of BT and describe its clinical characteristics, outcomes, and differential diagnoses. PATIENTS AND METHODS: This retrospective study collected all cases of BT diagnosed at our hospital's infectious disease department in Tunisia from 2000 through 2009. We assessed the epidemiologic and clinical findings and reviewed the laboratory, histology, and radiology results, treatment data, and outcomes. RESULTS: Eight women (mean age: 52.5 years, range: 31-75) had BT. Clinical features included retracted erythematous lesions in four cases, a fluctuating abscess in two, and a well-defined nodule in two. The biopsy culture was positive in two cases. Histology results showed a tuberculoid granuloma with caseous necrosis in all cases. Antituberculosis drugs were administered for 8 to 12 months. Two patients underwent surgery. Outcome included total regression of BT for all women. CONCLUSION: Clinical features of BT are often misleading and can easily be mistaken for those of breast cancer. Identification of the Koch bacillus or the presence of a tuberculoid granuloma with caseous necrosis on histology facilitates diagnosis. The treatment consists essentially of antituberculosis drugs. Despite its rarity, BT must not be misjudged, especially in countries where tuberculosis is endemic.

Acute generalized exanthematous pustulosis induced by the essential oil of Pistacia lentiscus.

Acute generalized exanthematous pustulosis (AGEP) is an uncommon pustular eruption characterized by small nonfollicular pustules on an erythematous background, sometimes associated with fever and neutrophilia. Over 90% of cases are drug-induced; however, it can be caused in rare cases by other agents. We report two cases of AGEP secondary to ingestion of Pistacia lentiscus essential oil, the first two such cases to our knowledge. The cutaneous morphology, disease course and histological findings were consistent with a definite diagnosis of AGEP, based on the criteria of the EuroSCAR study group. These two cases highlight the need to consider herbal extracts as a potential rare cause of AGEP and to ensure the safety of herbal medicines.

Functional defects of peripheral regulatory T lymphocytes in patients with progressive vitiligo.

Auto-reactive cytotoxic T lymphocytes play a key role in the progressive loss or destruction of melanocytes in vitiligo but the mechanism underlying the loss of self-tolerance is unknown. A deregulation of regulatory T-cell biology has recently been suggested. The analysis of the suppressive effects of peripheral T regulatory cells in vitiligo patients revealed a functional defect in seven of 15 cases. This defect was strongly correlated with disease activity. The evaluation of the percentage of peripheral regulatory T lymphocytes did not reveal any intrinsic quantitative defect. Yet, a decrease in the percentage of such cells was noted in patients with progressive forms, suggesting a recruitment of regulatory T cells from the peripheral blood to the site of injury. This was further corroborated by the significant increase of Forkhead box P3 expression in the vitiliginous skin of patients. Our data support the involvement of a functional defect of peripheral regulatory T cells in the pathogenesis of vitiligo and open new possibilities to advance therapeutic approaches.

[Transient pustular eruption in neonates]. / Mélanose pustuleuse néonatale transitoire.

Transient neonatal pustular melanosis is a common, benign, but little known dermatosis in newborns. Diagnosis of transient neonatal pustular melanosis is made clinically, by the presence of vesiculopustular and pigmented macular skin lesions. This benign spontaneously regressive dermatosis should be distinguished from several serious infectious neonatal diseases. We report a case of transient neonatal pustular melanosis and discuss the nosologic problems and differential diagnosis of this entity.

[Dermatofibrosarcoma protuberans in children]. / Dermatofibrosarcome protubérant de l'enfant.

Dermatofibrosarcoma protuberans (DFSP) is a relatively rare skin neoplasm. Usually affecting adults, the incidence in children is even less frequent. Through a report of three pediatric cases of DFSP, we describe the particularities of this tumor in children. Three boys aged 8, 9, and 15 years presented with a firm nodular skin lesion of the trunk, varying in size from 1 to 5 cm. No previous trauma event had occurred. Diagnosis was confirmed in all cases by immunohistological study. Surgical excision was performed in all cases. No recurrence was evident during the follow-up period of, respectively, 15, 36, and 49 months. The DFSP is an infiltrative tumor of intermediate malignancy, with a limited potential for metastasis (<5%) but a high rate of local recurrence (≥ 50%). The incidence in children is even less frequent. In children, its seemingly benign clinical appearance may explain delays in diagnosis; the majority of lesions affect the extremities, suggesting a potential role-played by injury. In our observations, however, as in adults, the trunk was the site of occurrence. Despite the uncertain pathogenesis of this tumor, the finding of certain characteristic histopathological features helps establish an accurate diagnosis. As in adults, surgical treatment with large surgical margins remains the best practice for children with DFSP, directly affecting the prognosis.

[Mycetoma in Tunisia: a 15-case series]. / Les mycétomes en Tunisie: 15 observations.

BACKGROUND: Mycetoma is a chronic infection of cutaneous and subcutaneous tissue that can be caused by fungi or bacteria. It is endemic in tropical and subtropical areas but rare in Tunisia. PURPOSE: The purpose of this report is to describe epidemioclinical features, treatment and outcomes in patients presenting mycetoma in Tunisia. PATIENTS AND METHODS: The files of all patients treated for mycetoma in the Dermatology Department of La Rabta Hospital in Tunisia from 1982 to 2006 were retrospectively reviewed. RESULTS: A total of 15 cases of mycetoma were recorded during the study period. There were 6 men and 9 women with a mean age of 53.2 years. The most common clinical presentation was infiltrated erythematous plaques with sinus tracts (fistulas). Lesions were located on the foot in 12 cases. Thirteen patients reported the presence of grains in fluid discharging from fistulas. The cause of mycetoma was actinomycetes, i.e., Actinomadura madurae, in 9 cases and fungus in 6 cases including 3 due to Madurella mycetomi and 2 to Pseudallesheria boydii. Treatment was based on oral antibiotics for actinomycetoma and oral antifungals for eumycetoma. CONCLUSIONS: Mycetoma in Tunisia is still uncommon with a slight female predominance. The foot is the most frequent location. Diagnosis can be accomplished by direct mycologic examination, culture, and histololgy. There is no consensus on treatment that is often prolonged with numerous relapses.

Hailey-Hailey disease in Tunisia.

SUMMARY BACKGROUND: Most of the published reports on Hailey-Hailey disease (HHD) come from European and Asian countries. We report here the clinical and genetic investigation of 20 patients affected with HHD in Tunisia. METHODS: Affected individuals from three large teaching hospitals in Tunis were recruited for the study over a 25-year period. Nine patients were identified through the active files and examined together with their family members that were visited in their respective regions. We have clinically examined in total 65 individuals and then identified 11 new cases. Patients were included on the basis of evocative skin lesions, biopsy proven HHD and negative immunofluorescence. Investigations to rule out fungal, bacterial and viral infections were done according to clinical symptoms. RESULTS: Twenty patients (12 males and 8 females) from 8 families were included in the present study with more than 55% that were undiagnosed before this investigation. Four patients had mild disease, eight had moderate disease and another eight had severe disease, among whom seven were females. Parental consanguinity was found in 7 cases out of 20 cases (35%). The neck region was first affected in half (4/8) of the male patients. Groins were first affected in 42% (5/12) of the female patients. Depression complicated the course of the disease in two female patients with severe HHD. We report an original association of supernumerary nipples with HHD in two sisters from the north of Tunisia. In 10 patients, the disease has become less troublesome with aging. CONCLUSION: HHD is underestimated. Physicians must be aware of this disease in case of resistant intertriginous dermatosis especially with a positive family history as nine out of 20 patients were misdiagnosed.

Leukocytoclastic vasculitis and gastric adenocarcinoma.

BACKGROUND: Cutaneous vasculitis has been mainly associated with hematologic cancer. The association of solid neoplasms with cutaneous paraneoplastic vasculitis is rare. We report a case of cutaneous leucocytoclastic vasculitis that revealed a gastric adenocarcinoma. CASE REPORT: A 72-year-old man presented with an acute diffuse polymorphic eruption, with erythematous, vesicular, and necrotic lesions predominating on the lower limbs, which had developed within the past 8 days. The medical history revealed abdominal pain and weight loss over the previous 6 months. A skin biopsy noted typical leucocytoclastic vasculitis. A workup including GI tract investigations revealed an antral adenocarcinoma. Complete excision of the gastric tumor was followed by resolution of the skin lesions. No tumor recurrence or cutaneous vasculitis was noted during 2 years of follow-up. CONCLUSION: To our knowledge, the association of leucocytoclastic vasculitis with gastric cancer has never been reported previously. The failure of vasculitis to respond to conventional therapy should suggest an underlying malignancy.

Letterer-Siwe disease associated with chronic myelomyonocytic leukemia: a fortuitous association?

Langerhans cell histiocytosis (LCH) and malignancy occurring in the same individual is unusual and has generally been the subject of isolated case reports. LCH is a rare condition in adults. Its cause is uncertain but, with the recent demonstration of clonality and its association with malignant disease, there has been a renewal of interest. We report a singular case of Letterer-Siwe disease associated with a chronic myelomonocytic leukemia developing in an elderly woman. The simultaneous occurrence of both malignant disorders supports the hypothesis of a common genetic origin.

[Erythematous type scaly papule on the abdomen: chromoblastomycosis due to Fonsecaea pedrosoi]. / Plaque érythémato-squameuse papuleuse et atrophique de l'abdomen: chromomycose à Fonsecaea pedrosoi.

Chromoblastomycosis is a chronic subcutaneous fungal infection caused by dematiaceous saprophytic moulds. We report a case of chromoblastomycosis due to Fonsecaea pedrosoi observed in man from the Baja region of Tunis. He presented since one year an erythemato-squamous atrophic plaque localised at the abdomen area. Clinical remission was obtained after cryotherapy and terbinafine.