Tunisian endemic pemphigus foliaceus is associated with the HLA-DR3 gene: anti-desmoglein 1 antibody-positive healthy subjects bear protective alleles.

BACKGROUND: Pemphigus foliaceus is an autoimmune blistering skin disease that partly results from genetic factors, especially human leucocyte antigen (HLA) class II genes. OBJECTIVES: The aim of the study was to determine the HLA DR/DQ markers of susceptibility and protection in the Tunisian endemic form. METHODS: Genomic DNA from 90 patients with pemphigus foliaceus recruited from all parts of the country and matched by age, sex and geographical origin with 270 healthy individuals, was genotyped. RESULTS: Firstly, when the whole patient population was studied, DRB1*03, DQB1*0302 and DRB1*04 alleles were significantly associated with the disease while a significant decrease of, in particular, DRB1*11 and DQB1*0301 was observed in patients compared with controls. DRB1*0301 was the dominant allele in DR3-positive patients and controls, while DRB1*0402 was found in 42% of DR4-positive patients. Secondly, when the HLA DR/DQ allele distribution was studied after dividing patients according to their geographical origin, the southern group, which consisted exclusively of patients with the endemic form of the disease, showed the same associations as the whole pemphigus foliaceus population, particularly with DRB1*03. In the northern group, only the DRB1*04 and DQB1*0301 alleles were found to be associated. Interestingly, anti-desmoglein 1 antibody-positive healthy controls did not carry susceptibility alleles but, in contrast, most carried negatively associated alleles. CONCLUSIONS: These observations indicate that a particular genetic background characterizes the Tunisian endemic form of pemphigus foliaceus and that HLA class II genes control the pathogenic properties of the autoimmune response rather than the initial breakage of B-cell tolerance.

Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia.

BACKGROUND: Pemphigus foliaceus is an autoimmune blistering skin disease characterized by the production of pathogenic IgG autoantibodies directed against desmoglein 1. AIM: To determine the prevalence of anti-desmoglein 1 antibodies in healthy subjects and their distribution in the different regions of Tunisia and to better identify endemic areas of pemphigus foliaceus. METHODS: We tested, by enzyme-linked immunoserbent assay, sera of 270 normal subjects recruited from different Tunisian areas and 203 related healthy relatives to 90 Tunisian pemphigus foliaceus patients. Results Seventy-six patients (84.4%), 20 healthy controls (7.4%), and 32 relatives (15.76%) had anti-desmoglein 1 antibodies. In southern regions where pemphigus foliaceus is associated with a significant sex ratio imbalance (9 female : 1 male in the south vs. 2.3 : 1 in the north) and a lower mean age of disease onset (33.5 in the south vs. 45 years in the north), a higher prevalence of anti-desmoglein 1 antibodies in healthy controls was observed (9.23% vs. 5.71% in the north). Interestingly, the highest prevalence of anti-desmoglein 1 antibodies in healthy relatives (up to 22%) was observed in the most rural southern localities. More than half anti-desmoglein 1-positive healthy controls were living in rural conditions with farming as occupation, which suggests that this activity may expose the subjects to particular environmental conditions. CONCLUSION: These results show that the endemic features of Tunisian pemphigus foliaceus are focused in these southern areas more than in other areas and that both environmental and genetic factors contribute to the disease.

[Study of the ploidy and cellular cycle of hidradenomas and hidradenocarcinomas: a series of 13 cases]. / Etude de la ploïdie et du cycle cellulaire des hidradenomes et des hidradenocarcinomes: a propos d'une série de 13 cas.

AIMS: To study by flow cytometry (FCM) the ploidy and the cellular cycle of nodular hidradenoma (NH) and hidradenocarcinoma (HC) and to assess the prognostic utility of this technique in such tumors. METHODS: We studied retrospectively 2 HC and 11 NH one of which was considered as an atypical NH. Monoparametric study by FCM was realized on paraffin-embedded material. The extracted cells were marked by Propidium's lodure and cellular cycle was analyzed by the software Mod-Fit LT. RESULTS: Our study showed eleven 100% diploid profiles, 10 of which had low S-phase varying between 2 and 12%. All of these 11 tumors were NH. S-phase was high (23.79%) in a single case that corresponded to the atypical NH. Two tumors showed aneuploid profiles; these corresponded to the 2 HC. CONCLUSION: The results of the cytometric study suit perfectly to those of the histopathologic examination. FCM could so help to establish the prognosis of these tumors. But further studies are necessary to determine the value of this technique.

Syringocystadenoma papilliferum: report of 8 cases.

Syringocystadenoma papilliferum (SCAP) is a rare cutaneous adnexal neoplasm with variable clinical appearance and characteristic histology. It arises in about one third of cases within a sebaceous hamartoma (SH) and in this case, multiple other benign adnexal neoplasms may be associated with it. We report the clinical and pathological data of 8 cases of syringocystadenoma papilliferum. The age at the time of the diagnosis varied from 3 to 48 years with an average age of 28 years. Three tumors were localized in the scalp, 2 in the trunk, and 3 others of unusual locations: 1 in the eyelid, 1 in the thigh and 1 in the popliteal fossa. Histopathological examination revealed 3 SCAP occurring within SH. The SCAP observed in the eyelid was associated with an apocrine cystadenoma without features of SH. The four others were not associated with any other lesion.

[Prevalence and clinical aspects of superficial mycosis in hospitalized diabetic patients in Tunisia]. / Prevalence et aspects cliniques des mycoses superficielles chez le diabétique tunisien en milieu hospitalier.

OBJECTIVES: The prevalence of mycotic infection seems to be higher among diabetic patients than in the non-diabetic population. The aims of this study were to determine the frequency of mycosis and to compare clinical and fungal results. PATIENTS AND METHODS: This transversal study included 307 type 1 and 2 diabetic patients admitted between January 1998 and January 2000. A dermatologist examined all patients. The mean age was 44 +/- 17 years and the duration of diabetes 8 +/- 6 years. Patients with suspected lesions underwent mycological examination. RESULTS: Clinical signs of presumed fungal infection were found in 61% of patients, but mycosis was confirmed only in 30%. Fungal foot infection accounted 38% of the patients, mostly due to dermatophytes (94%). The commonest localizations of dermatophytes were interdigital (60%) followed by onychomycosis (30%). The main fungal agent was Trichophyton rubrum. The main risk factors for fungal infections were the age of patients (P = 0.0003) and duration of diabetes (P < 0.05). Interdigital foot localization of dermatophytes was correlated to age (P < 0.0001) and to the male gender (P < 0.01). The frequency of dermatophytes in nails was higher in type 2 diabetic patients (P < 0.01). Vulvovaginal candidosis and interdigital dermatophytes were more frequent in obese than in non-obese patients. The accuracy and specificity of direct examination were respectively 85% and 79%. CONCLUSION: The high frequency of mycosis in diabetic patients at hospital is demonstrated. The main risk factors were age, male gender and obesity.

[Therapeutic results of 5-fluorouracil in multiple and unresectable facial carcinoma secondary to xeroderma pigmentosum]. / Résultats thérapeutiques du 5-fluorouracile dans les carcinomes multiples ou non resécables de la face secondaires au xeroderma pigmentosum (XP).

A prospective study was done to test the efficacy of 5-fluorouracil (topical and systemic) in multiple and unresectable histologically proven facial squamous cell carcinomas (SCC) secondary to XP. Twelve patients (7M/5F, mean age 19.8 years) with multiple facial SCC were treated between 1994 and 1997. 5-FU was used as a twice-a-day local application in the documented areas, by continuous infusion associated with cisplatin (2 patients) and short infusion combined with folic acid (3 patients). Evaluation was done by clinical examination every two months for topical therapy and after every cycle for systemic treatment. Median treatment duration was 12 months (2 to 36 months). Treatment was well tolerated excluding episodes of pruritus in the treated areas. We observed mainly superficial tumour regression followed by dryness and crusting. In 5 cases, we performed biopsies after treatment showing in one case an extensive fibrosis with absence of tumour. However in the remaining 4 cases, despite a superficial reduction of tumour and a reconstitution of the epidermis, viable and unmodified squamous cell carcinoma remained in the deeper dermis. In the 5 patients treated by systemic 5-FU, we observed 1 complete response and 3 partial responses. Despite a dissociation between a good cosmetic result and a relatively superficial effect, topical 5-FU represents a useful therapeutic option in multiple unresectable facial SCC in patients with XP. Systemic chemotherapy is recommended in the event of more extended or profound lesions.