Association of interleukin-23 receptor gene polymorphism with Behçet disease.

BACKGROUND: Behçet disease (BD) is a chronic, multisystemic disease characterized by relapsing episodes of a wide spectrum of clinical symptoms. Several genetic and immunological factors have been suggested to be involved in the aetiopathogenesis of BD. AIM: To investigate the association between BD and five single nucleotide polymorphisms (SNP) in the gene for interleukin (IL)-23 receptor (IL-23R). METHODS: We recruited 123 patients with BD and 168 controls. A detailed phenotypic investigation of BD was made for each patient. Five SNPs in the IL-23R gene (rs11209026, rs7517847, rs11805303, rs1004819, rs17375018) were investigated. RESULTS: We found that patients with BD had a lower frequency of the rs17375018 GA and AA genotypes, and a higher frequency of the rs17375018 G allele, and these were statistically significant. The rs11209026 G allele frequency was higher in male patients with BD than in male controls, and the rs7517847 G allele was higher in patients with genital ulcers. The rs11805303 G and rs1004819 G alleles were more frequent in patients with papulopustular lesions. CONCLUSIONS: The rs17375018 variant in the IL-23R gene seems likely to be a strong susceptibility factor for BD in the Turkish population. As this variant was also shown to have a higher frequency in BD patients from different ethnic backgrounds in two previous studies, it may be specific for BD.

Rosacea and cardiovascular risk factors: a case control study.

BACKGROUND AND OBJECTIVE: Rosacea is an inflammatory skin disease with a chronic course. This study aimed to investigate the risk of cardiovascular disease (CVD) in rosacea patients. MATERIALS AND METHODS: The study included 60 rosacea patients and 50 age- and gender-matched controls. Demographic data, medical history, presence of cardiovascular risk factors were recorded. Waist circumference, height, and weight were measured, and the body mass index was calculated for each participant. Laboratory investigations, including fasting blood glucose, C-reactive protein (CRP), very low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoprotein, total cholesterol, triglyceride, lipoprotein(a) were performed. RESULTS: In all, 66% of the rosacea patients were female (mean age: 44.65 ± 12.9 years) and 66% of the controls were female (mean age: 42.3 ± 12.3 years). Median disease duration in the rosacea group was 36 months. High total cholesterol (>200 mg/dL), LDL (>130 mg/dL) and CRP (>0.8 mg/L) levels, a family history of premature CVD, and a history of smoking and alcohol consumption were significantly more common in the rosacea patients compared to controls. CONCLUSION: Rosacea patients may have a high risk of CVD. As such, we recommend close follow-up of rosacea patients because of the increased risk of CVD. The mechanism underlying this increased risk is unknown, and additional randomized and controlled studies are required for clarification.

The impact of rosacea on quality of life: effects of demographic and clinical characteristics and various treatment modalities.

BACKGROUND: Rosacea has a major psychosocial impact on a patient's life. OBJECTIVES: To determine the impact of rosacea on patient quality of life, the relationship of quality of life scores to clinical and demographic variables, and the change in quality of life following various treatments. METHODS: Patients' demographic and clinical characteristics were recorded at their initial examination and their response to treatment and side-effects were recorded additionally at their follow-up examination. Rosacea severity was scored for each of four signs from 0 to 3. Patients were requested to complete Dermatology Life Quality Index (DLQI) questionnaires. RESULTS: A total of 308 patients took part in this study. Mean ± SD DLQI total score at the initial visit was 6·93 ± 5·18 and was related to patients' age, sex, age at disease onset, subjective symptoms, triggering factors, previous treatments, rosacea severity scores and patients' self-assessment of ease of living with rosacea. Of these 308 patients, 164 completed the DLQI following treatment. Mean ± SD post-treatment DLQI score was 4·36 ± 4·82. Post-treatment scores were also related to sex, type of treatment modality, development of side-effects, improvement of rosacea, rosacea severity scores and patients' self-reported ease of living with rosacea. Topical metronidazole, oral tetracycline and oral isotretinoin were observed to reduce signs and symptoms of rosacea and DLQI scores significantly at this repeat examination. CONCLUSIONS: Rosacea affects patients' lives to a moderate extent, and this can be assessed by using DLQI. DLQI is also sensitive to quality of life changes brought about by treatment of rosacea. As a preliminary result we can say that topical metronidazole, oral tetracycline and oral isotretinoin seem to improve quality of life of patients by improving lesions of rosacea more efficiently than other therapeutic agents.

The functional role of nuclear factor kappa-kappaB1 -94 ins/del ATTG promotor gene polymorphism in Behçet's disease: an exploratory study.

Behçet's Disease (BD) is a systemic immunoinflammatory disease. The pathogenesis of BD is unknown, although raised levels of several pro-inflammatory cytokines have been reported. Nuclear factor kappa B (NF-kappaB) is a family of critical transcriptional factors involved in the regulation of a large variety of inflammatory responses and apoptosis. In this study we investigated the -94 insertion/deletion ATTG promoter polymorphism of the NF-kappaB1 gene (NFKB1) in 86 patients with BD and 100 healthy controls. The frequency of the -94ins ATTG (I) allele was 61.6% in patients with BD and 59% in controls and the frequency of the -94 del ATTG (D) allele was 38.4% in patients with BD and 41% in controls. The frequency of the -94ins ATTG (I) allele was significantly higher in patients with ocular involvement (P = 0.03). In the genotype study, the overall frequencies of II, ID and DD were 40.7%, 41.9%, and 17.4% in the patient group and 30%, 58% and 12% in the control group (P: 0.08). The II genotype was significantly higher in patients with ocular involvement, genital ulcers or papulopustular lesions. The frequency of the II, ID and DD genotypes showed no marked difference in patients with erythema nodosum, pathergy positivity, arthritis or vascular involvement. No difference was found for gender, positive family history or age at disease onset. This study provides evidence that the -94ins/del ATTG promoter polymorphism of NFKB1 may have functional consequences in BD, especially in patients with ocular involvement.

Oral-dental findings in a case of Maffucci's syndrome.

A case of Maffucci's syndrome (MS) in a 17-year-old Caucasian female is presented with a thorough intraoral examination. The prominent finding was recurrent gingival hyperplasia affecting both the free and attached gingiva with deep periodontal pockets, tooth mobility, pathological tooth migration, and severe alveolar bone loss. Furthermore, the pattern of alveolar bone destruction, in many ways, resembled that of localized juvenile periodontitis. Although there is always the possibility that these oral features may not be related with the syndrome, we suggest a careful dental and periodontal examination in future cases, which we believe will help develop a better description of oral findings in MS.

Lacrimal function and ocular complications in patients treated with systemic isotretinoin.

PURPOSE: To evaluate the effect on lacrimal function and ocular complications in patients with severe acne vulgaris during systemic treatment with 13-cis-retinoic acid (isotretinoin). METHODS: Forty patients with acne vulgaris were treated with systemic isotretinoin at dosages of 0.5-1 mg/kg per day for two months. Full ophthalmologic examination, Schirmer I test, fluorescein break-up (BUT) and microbiological investigations of the conjunctival flora were done before, during the second month and at least one month after the end of the treatment. RESULTS: The average Schirmer values before and after the treatment were 21.6 mm/5 minutes (SD +/- 7.01) and 18.48 mm/5 minutes (SD +/- 7.87) respectively. After the treatment BUT was less than 10 seconds in 50% of the patients and 55% had blepharitis. Subjective symptoms like dryness, itching and contact lens intolerance occurred in 42.5% and colonization of the conjunctiva by Staphylococcus aureus increased significantly during treatment (p= 0.031). All abnormal findings disappeared one month after the cessation of treatment. DISCUSSION: Isotretinoin causes signs and symptoms of dry eye, probably by reducing meibomian gland function, but ocular complications are generally not serious when low doses are used for a limited time, and are reversible after discontinuation.

The aluminum content in some patch test allergens.

The Al content of 18 patch test allergens were measured by electrothermal atomic absorption spectrophotometry. It was found that these preparations contained Al in various amounts. We conclude that the presence of Al in patch test allergens may interfere with the diagnosis and evaluations of patients to whom the test is applied.

Cutaneous mastocytosis: demographic aspects and clinical features of 55 patients.

BACKGROUND: Mastocytosis is a rare, heterogeneous group of disorder with abnormal increase of mast cells in one or more organ systems. OBJECTIVE: To evaluate the demographic and clinical features of cutaneous mastocytosis (CM). METHODS: Records of 55 patients with cutaneous mastocytosis were retrospectively analysed. RESULTS: Of the 22 females and 33 males, 80% had urticaria pigmentosa/maculopapular CM and 20% had mastocytoma. Of all cases, 81.8% had first lesions in childhood. The most common presentation was involvement of trunk together with extremities. Thirteen (23.6%) patients had history of bulla; Darier's sign was positive in 34 of 38 patients. Itching was the most common complaint, provocated by hot weather/bath. CONCLUSION: Clinical presentations of urticaria pigmentosa/maculopapular CM and mastocytoma are similar regarding gender, age of onset, age of diagnosis, and presence of Darier's sign and history of bulla. In contrast to mastocytoma, urticaria pigmentosa/maculopapular CM lesions were frequently located on trunk together with extremities.

The efficacy, tolerability and safety of a new oral formulation of Sandimmun--Sandimmun Neoral in severe refractory atopic dermatitis.

AIM: To investigate the efficacy, tolerability and safety of a new oral formulation of Sandimmun-Sandimmun Neoral in severe refractory atopic dermatitis in an open, multicenter study. METHODS: The study was conducted in three parts. After 2 weeks of screening, Sandimmun Neoral was commenced at a dose of 3 mg/kg per day and continued until remission or for a maximum of 8 weeks, after which the dose was reduced by half and continued for another 2 weeks and then discontinued. After the treatment period, patients were followed up first for 8 weeks and then until relapse or for a maximum of 24 weeks. SUBJECTS: Twenty-three patients with severe refractory atopic dermatitis (15 females, eight males) mean age 27.2 +/- 14.6 years (range 13-70 years) entered and 22 patients completed the study (one drop-out due to withdrawal of consent). RESULTS: After the end of the full-dose (mean duration 6.5 weeks) and half dose treatment periods, the SCORAD index decreased by 82 and 90%, respectively. Improvement started as early as at 2 and 4 weeks of treatment (mean reduction in SCORAD: 37.5 and 71.7%). At the end of the treatment phase, reductions in EDS, intensity of disease, DSS, pruritus, and sleep loss were 85, 88, 79, 85 and 96%, respectively. The overall efficacy was assessed as very good or good in 96 and 100% of the patients at the end of treatment and after 8 weeks follow-up, respectively. During the follow-up of 24 weeks after treatment, 73% of the patients had a relapse, whereas 27% were still in remission at the end of 24 weeks. In the 22 patients who completed the study, no adverse events were noted which would have necessitated dose reduction or drug withdrawal. Tolerability was assessed as very good or good in 91 and 96% of the patients, at the end of treatment and after 8 weeks follow-up, respectively. Adverse events observed were: nausea (18%), hirsutism (9%), headache (4.5%), epigastric pain (4.5%), paresthesia (4.5%), furuncle (4.5%), and herpes labialis (4.5%). No significant changes in vital signs, hematological and biochemical parameters and serum creatinine were observed during the study except eosinophilia which was reduced by 40% towards the end of treatment. CONCLUSIONS: Our results suggested that short-term (8 weeks), low dose (3 mg/kg per day) Sandimmun Neoral treatment is an effective, safe, and well-tolerated treatment for atopic dermatitis refractory to conventional treatment modalities and can lead to long-term remission of the disease in some patients. However, a double-blind, placebo controlled, long-term follow-up study would be necessary to confirm these results.

Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit.

Seventy-one children with Down syndrome who were admitted consecutively to Hacettepe University Children's Hospital Genetics department were examined for skin disorders. None of the patients suffered directly from skin disorders. All were living with their families and had approximately similar living conditions. There were 29 children with palmoplantar hyperkeratosis (40.8%), seven with xerosis (9.8%), 22 with seborrheic dermatitis (30.9%), 14 with fissured tongue (20%), eight with geographic tongue (11.2%), and nine with cutis marmorata (12.6%). Nine had normal skin findings. Since palmoplantar hyperkeratosis may be a result of vitamin A deficiency, the serum vitamin A levels of these patients were evaluated. There was no statistical difference between vitamin A levels of the children with Down syndrome and the control group.

Experience with calcipotriol as adjunctive treatment for vitiligo in patients who do not respond to PUVA alone: a preliminary study.

BACKGROUND: PUVA therapy remains a primary treatment for vitiligo, despite unsatisfactory results. Because of calcipotriol's reported effects on melanocytes and on immunomodulatory and inflammatory mediators we wondered whether adding calcipotriol to PUVA would be more effective than PUVA alone in treating vitiligo. OBJECTIVE: We sought to determine whether the combination of topical calcipotriol and PUVA therapy increases the responsiveness of patients with vitiligo refractory to PUVA alone. METHODS: Twenty-one patients with vitiligo refractory to previous PUVA therapy were studied. Patients received 60 sessions of PUVA 3 times a week and 0.005% topical calcipotriol twice daily. Patients were monitored for repigmentation overall and on the trunk, extremities, and acral regions. RESULTS: Starting at the median of the 17th treatment session, some degree of repigmentation was observed in 71.5% of the patients. After treatment, cosmetically acceptable overall repigmentation was observed in 29% of patients; repigmentation of lesions on the trunk, extremities, and acral region was noted in 36%, 58%, and 0% of patients, respectively. Adverse reactions were mild and tolerable. CONCLUSION: The combination of PUVA and calcipotriol may be effective therapy and should be further investigated for the treatment of vitiligo.

Examination of mycosis fungoides for the presence of Epstein-Barr virus and human herpesvirus-6 by polymerase chain reaction.

BACKGROUND: The aetiology of cutaneous T-cell lymphoma (CTCL) remains unknown despite numerous investigations. In recent years, retroviruses and human herpesviruses have been implicated to play a causal part in CTCL. OBJECTIVE: The aim of this study was to elucidate the possible aetiopathogenetic role of human herpesviruses (HHV) in mycosis fungoides (MF). METHODS: Polymerase chain reaction was used to study formalin-fixed, paraffin-embedded lesional skin biopsies from 92 subjects with MF to evidence possible presence of Epstein-Barr virus (EBV) and HHV-6. RESULTS: Biopsy specimens from nine subjects (9.8%) evidenced EBV DNA, whereas all except one of the subjects (1.1%) lacked HHV-6 DNA. CONCLUSIONS: Although these findings do not support a primary aetiological role for EBV and HHV-6 in classical CTCL, the possibility remains that both viruses, particularly EBV, may act as potential cofactors in the development of CTCL.

Disseminated pagetoid reticulosis: plaques and tumoral lesions occurring simultaneously in the same patient.

Disseminated pagetoid reticulosis is considered to have a poor prognosis. Some authors regard this disease as an epidermotropic type of mycosis fungoides rather than a distinct entity. We report the case of an 83-year-old woman with disseminated pagetoid reticulosis who subsequently developed tumoral lesions and died soon after the appearance of these tumours. Our case is in agreement with findings that disseminated pagetoid reticulosis has an aggressive clinical behaviour.

Intermittent short courses of cyclosporin (Neoral(R)) for psoriasis unresponsive to topical therapy: a 1-year multicentre, randomized study. The PISCES Study Group.

We performed a 1-year study to determine whether intermittent short courses of the microemulsion formulation of cyclosporin (Neoral) could effectively control plaque psoriasis and whether tapering or abrupt cessation of cyclosporin therapy would influence time to relapse. Four hundred patients with plaque psoriasis were included in this open, multicentre, randomized study. All patients commenced cyclosporin at a dose of 2.5 mg/kg daily. Cyclosporin dosage could be increased to a maximum of 5 mg/kg daily. Treatment was continued until clearance of psoriasis or for a maximum of 12 weeks. Patients were then randomly assigned either to stop cyclosporin abruptly or to have the dose reduced by 1 mg/kg daily each week until cessation. On relapse, patients were given another course of cyclosporin. Patients were followed for at least 1 year, during which they could receive as many treatment courses as necessary. The number of patients who required one, two, three and four treatment courses was 400, 259, 117 and 26, respectively. The median time to relapse after the end of the first treatment period was 109 days in the group of patients randomized to stop cyclosporin abruptly and 113 days in patients randomized to taper off cyclosporin (P = 0.038). More than 30% of patients had not relapsed 6 months after having stopped treatment. After each treatment course, the Kaplan-Meier probability of achieving 75% or more reduction in disease area by day 84 of treatment was 83%, 76%, 73% and 66%, respectively. Mean serum creatinine concentration and blood pressure did not show any clinically significant changes over time. Our results show that intermittent short-course therapy with Neoral, when used in conjunction with topical therapy, is well tolerated and provides effective control of plaque psoriasis for 1 year. Tapering off cyclosporin on treatment cessation induces a slight delay in psoriasis relapse.