ObjectivesTo confirm the association of previously discovered psoriasis (Ps) risk loci with the disease in a Polish population and to create predictive models based on the combination of these single nucleotide polymorphisms (SNPs).Material and methodsThirty-eight SNPs were genotyped in 480 Ps patients and 490 controls. Alleles distributions were compared between patients and controls, as well as between different Ps sub-phenotypes. The genetic risk score (GRS) was calculated to assess the cumulative risk conferred by multiple loci.ResultsWe confirmed associations of several loci with Ps: HLA-C, REL, IL12B, TRIM39/RPP21, POU5F1, MICA. The analysis of ROC curves showed that GRS combining 16 SNPs at least nominally (uncorrected P<0.05) associated with Ps (GRS-N) had significantly better discriminative power than GRS combining SNPs associated with Ps after the Bonferroni correction (AUC 0.776 vs. 0.750, P = 1 x 10−4) or HLA-C (AUC 0.776 vs. 0.694, P<1 x 10−5). On the other hand, adding additional SNPs to the model did not improve its discriminatory ability (AUC 0.782 for GRS combining all SNPs, P>0.05). In order to assess the total risk conferred by GRS-N, we calculated ORs according to GRS-N quartile ˗ the Ps OR for top vs. bottom GRS-N quartiles was 12.29 (P<1 x 10−6). The analysis of different Ps sub-phenotypes showed an association of GRS-N with age of onset and family history of Ps.ConclusionsWe confirmed the association of Ps with several previously identified genetic risk factors in a Polish population. We found that a GRS combining 16 SNPs at least nominally associated with Ps had a significantly better discriminatory ability than HLA-C or GRS combining SNPs associated with Ps after the Bonferroni correction. In contrast, adding additional SNPs to GRS did not increase significantly the discriminative power.
Relapsing polychondritis (RP) is a rare systemic disease characterized by recurrent, widespread chondritis of the auricular, nasal, and tracheal cartilages. Additional clinical features include audiovestibular dysfunction, ocular inflammation, vasculitis, myocarditis, and nonerosive arthritis. Although the cause remains unknown, the etiology is suspected to be autoimmune. We describe a case of a 31-year-old woman with a four-month history of bilateral auricular and nasal chondritis. Infectious and neoplastic diseases were excluded by imaging and laboratory examinations. RP was diagnosed based on three McAdam's criteria. The patient was medicated with oral prednisolone and methotrexate with positive clinical response. In this case clinical history and detailed physical examination were fundamental in concluding the correct diagnosis and administrating the appropriate medication.
Introduction. Syphilis is a sexually transmitted disease that can be asymptomatic or associated with various symptoms including systemic manifestations. A total of 1,253 cases of syphilis were registered in Poland in 2015. Syphilis frequently coexists with HIV infection and other sexually transmitted diseases. Objective. Epidemiological and clinical characteristics of the population of patients treated for syphilis in the Department of Dermatology and Venereology, Medical University of Warsaw, and to evaluate the coexistence of other sexually transmitted diseases with special reference to HIV infection. Material and methods. The retrospective study involved an analysis of information included in medical files of 411 consecutive patients treated for syphilis in the Department of Dermatology and Venereology, Medical University of Warsaw, in 2015. Results. As many as 92% of the analyzed patients treated for syphilis were males, and 72.5% were men who have sex with men. Eighty-one percent of the subjects were between 21 and 40 years of age. Out of 325 patients with known HIV test results, 26.5% were HIV-positive. Evaluation of coexistence of other sexually transmitted diseases was difficult because of incomplete data, however gonorrhoea (7.8%) and hepatitis C virus infection (2.7%) were diagnosed more often in the studied group of patients with syphilis than in the general population. Hepatitis C virus infection was found in 6% of individuals co-infected with syphilis and HIV. Conclusion. The results confirm the need to screen patients with syphilis for HIV infection, and HIV-positive patients for syphilis. Original article/Praca oryginalna syphilis in patients of the Department of Dermatology and Venereology at Medical University of Warsaw in 2015epidemiological and clinical characteristics, and coexistence of other sexually transmitted diseases Kiła u pacjentów Kliniki Dermatologii i Wenerologii Warszawskiego Uniwersytetu Medycznego w 2015 r.-charakterystyka epidemiologiczna, kliniczna oraz współistnienie innych chorób przenoszonych drogą płciową
Introduction:Genodermatoses associated with malignant tumors constitute a diagnostically important group of dermatological diseases. One of them is the Birt-Hogg-Dube syndrome, characterized by numerous fibrofolliculomas, trichodiscomas, (benign nodules originating from hair follicles), lung cysts and an increased risk of kidney cancer. Case report: A 81-year-old man was admitted to our clinic with erythematous-edematous, bullous and erosive skin lesions located on his trunk and limbs. During hospitalization, bullous pemphigoid and two types of basal cell carcinoma were diagnosed. Additionally, attention was paid to the presence of numerous flesh-colored papules on the surface of the face, neck and ears, corresponding to fibrofolliculoma in the histopathological examination. An in-depth medical history and detailed imaging diagnostics allowed the patient to be diagnosed with the Birt-Hogg-Dubé syndrome. Conclusions: Characteristic skin lesions and coexisting extra-cutaneous symptoms in Birt-Hogg-Dube syndrome allow early identification of patients at increased risk of kidney cancer. We describe the first case of Birt-Hogg-Dube syndrome associated with bullous pemphigoid and basal cell carcinoma.
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