Psoriasis and 5HT-R2C Gene Polymorphism: Association between Clinical, Demographic and Therapeutic Parameters in the Turkish Population

We aimed to investigate the relationship between single nucleotide polymorphism (SNP) in the promoter region of the 5-HT-R2C gene and stress-related disease psoriasis in the Turkish population. The putative association between the 5-HTR2C variant (rs6318 Cys23Ser allele) and patients with psoriasis was investigated. 100 patients with psoriasis and 100 age-sex matched, unrelated healthy subjects representing the control group were included in the study. The PCR-RFLP method was used for genotyping the 5-HTR2C variation. There was no statistically difference in terms of genotype distributions and allele frequencies between the control subjects and patients with psoriasis (P=0.360 and P=0.439, respectively). The comparison between the presence and absence of the 5-HTR2C gene rs6318 G allele within the determined clinical subsets resulted in a significant difference with regard to treatment methodology only when conventional therapy and one or more medical therapy was compared (P=0.021). This study is the first clinical study to investigate the association between 5-HTR2C polymorphism and psoriasis. The role of the 5-HTR2C gene should be examined with more parameters in a larger case series

Epidemiology of pemphigus in Turkey: One-year prospective study of 220 cases

Pemphigus is a group of rare and life-threatening autoimmune blistering diseases of the skin and mucous membranes. Although they occur worldwide, their incidence shows wide geographical variation, and prospective data on the epidemiology of pemphigus are very limited. Objective of this work is to evaluate the incidence and epidemiological and clinical features of patients with pemphigus in Turkey. All patients newly diagnosed with pemphigus between June 2013 and June 2014 were prospectively enrolled in 33 dermatology departments in 20 different provinces from all seven regions of Turkey. Disease parameters including demography and clinical findings were recorded. A total of 220 patients were diagnosed with pemphigus during the 1-year period, with an annual incidence of 4.7 per million people in Turkey. Patients were predominantly women, with a male to female ratio of 1:1.41. The mean age at onset was 48.9 years. Pemphigus vulgaris (PV) was the commonest clinical subtype (n=192; 87.3%), followed by pemphigus foliaceus (n=21; 9.6%). The most common clinical subtype of PV was the mucocutaneous type (n=83; 43.2%). The mean Pemphigus Disease Area Index was 28.14±22.21 (mean ± Standard Deviation).  The incidence rate of pemphigus in Turkey is similar to the countries of South-East Europe, higher than those reported for the Central and Northern European countries and lower than the countries around the Mediterranean Sea and Iran. Pemphigus is more frequent in middle-aged people and is more common in women. The most frequent subtype was PV, with a 9-fold higher incidence than pemphigus foliaceus.   </p

Survey study on training and implementation of dermatoallergy by the Turkish Society of Dermatology Dermatoallergy Study Group

Conclusion: We found out that most of the dermatologists in Turkey have the sufficient knowledge and practice to perform dermatoallergy tests. However, further scientific training courses on oral food challenge and drug provocation tests are required to improve the practice of dermatologists

Serum indoleamine 2,3-dioxygenase level and diagnostic value in patients with rosacea

Background: Indoleamine 2,3-dioxygenase (IDO), an enzyme in the first step of tryptophan catabolism, plays a role in the pathogenesis of various malignancies and inflammatory diseases. Although its pathogenesis is unclear, vascular dysregulation and chronic inflammation are the most common culprits for rosacea. Objectives: The aim of this study is to evaluate the relationship between IDO and rosacea and whether there is a correlation with disease severity. Methods: Fifty-two patients with rosacea and 29 healthy volunteers were recruited. The patients were grouped according to severity stage, period, and subtype of the disease. Serum IDO levels were measured with enzyme-linked immunosorbent assay. Results: Serum IDO levels were significantly higher in the patients with rosacea compared to the healthy controls (P < 0.001) and were significantly higher in the patients in remission period and with papulopustular type rosacea compared to the controls (P = 0.002 and P = 0.001, respectively). The serum IDO levels of the female rosacea patients were higher than those of the healthy female controls (P < 0.001). When the diagnostic value of the parameter was investigated, it was observed that the serum IDO level has high sensitivity (83.3%) and specificity (76.1%), with a cutoff value of 47.1 ng/mL for female rosacea patients. Conclusion: IDO was found to increase in rosacea patients. With the high specificity and sensitivity observed, especially in female patients, IDO may be a supporting parameter in the diagnosis of rosacea

Birt-Hogg-Dube Syndrome: Diagnostic Journey of Three Cases from Skin to Gene

Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene folliculin (FLCN). Here, we present three female patients diagnosed with BHDS. First case a 55-year-old female had flesh moles histopathology compatible with angiofibroma, multiple cysts in the lung and kidneys, FLCN gene mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon). The second case a 76-year-old female had trichodiscoma on her skin, multiple cysts in the lung, spontaneous pneumothorax, FLCN gene mutation 'c.1285dupC (p.His429Profs*27) 11th exon' and, her son had renal carcinoma history under 50 years of age. Our third case, also the daughter of case 2, had dermal papules histopathology compatible with trichodiscoma, spontaneous pneumothorax, FLCN gene mutation 'c.1285dupC (p.His429Profs*27) 11th exon' and, parotid oncocytoma. Through our cases, we document the first case of two mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon) in the same FLCN gene and the 11th known case of parotid oncocytoma associated with BHDS in the light of the literature

Epidemiology of Pemphigus in Turkey: One-year Prospective Study of 220 Cases

Pemphigus is a group of rare and life-threatening autoimmune blistering diseases of the skin and mucous membranes. Although they occur worldwide, their incidence shows wide geographical variation, and prospective data on the epidemiology of pemphigus are very limited. Objective of this work is to evaluate the incidence and epidemiological and clinical features of patients with pemphigus in Turkey. All patients newly diagnosed with pemphigus between June 2013 and June 2014 were prospectively enrolled in 33 dermatology departments in 20 different provinces from all seven regions of Turkey. Disease parameters including demography and clinical findings were recorded. A total of 220 patients were diagnosed with pemphigus during the 1-year period, with an annual incidence of 4.7 per million people in Turkey. Patients were predominantly women, with a male to female ratio of 1:1.41. The mean age at onset was 48.9 years. Pemphigus vulgaris (PV) was the commonest clinical subtype (n= 192; 87.3%), followed by pemphigus foliaceus (n= 21; 9.6%). The most common clinical subtype of PV was the mucocutaneous type (n= 83; 43.2%). The mean Pemphigus Disease Area Index was 28.14 +/- 22.21 (mean +/- Standard Deviation). The incidence rate of pemphigus in Turkey is similar to the countries of South-East Europe, higher than those reported for the Central and Northern European countries and lower than the countries around the Mediterranean Sea and Iran. Pemphigus is more frequent in middle-aged people and is more common in women. The most frequent subtype was PV, with a 9-fold higher incidence than pemphigus foliaceus

Cross-Cultural Validation of the Quality of Life in Hand Eczema Questionnaire (QOLHEQ)

The Quality of Life in Hand Eczema Questionnaire (QOLHEQ) is the only instrument assessing disease-specific health-related quality of life in patients with hand eczema. It is available in eight language versions. In this study we assessed if the items of different language versions of the QOLHEQ yield comparable values across countries. An international multicenter study was conducted with participating centers in Finland, Germany, Japan, The Netherlands, Sweden, and Turkey. Methods of item response theory were applied to each subscale to assess differential item functioning for items among countries. Overall, 662 hand eczema patients were recruited into the study. Single items were removed or split according to the item response theory model by country to resolve differential item functioning. After this adjustment, none of the four subscales of the QOLHEQ showed significant misfit to the item response theory model (P < 0.01), and a Person Separation Index of greater than 0.7 showed good internal consistency for each subscale. By adapting the scoring of the QOLHEQ using the methods of item response theory, it was possible to obtain QOLHEQ values that are comparable across countries. Cross-cultural variations in the interpretation of single items were resolved. The QOLHEQ is now ready to be used in international studies assessing the health-related quality of life impact of hand eczema