Agnieszka Żebrowska

The impact of the CYP2D6 gene polymorphism on the risk of pemphigoid

Studies concerning the etiopathogenesis of numerous diseases emphasize the involvement of genetically determined impairments of xenobiotic metabolism. Nowadays, more attention has been drawn to the role of cytochrome P450 and its isoenzymes in the course of dermatological diseases, including pemphigoid, the most frequently occurring autoimmune bullous disease, whose etiopathogenesis has not been completely elucidated.

Correlation between IL-36α and IL-17 and Activity of the Disease in Selected Autoimmune Blistering Diseases

Dermatitis herpetiformis (DH), bullous pemphigoid (BP), and pemphigus vulgaris (PV) are autoimmune bullous skin conditions with eosinophilic and neutrophilic infiltrations. While cytokines are crucial for the affinity and activation of different leukocyte cells in the inflammation and blister formation, there are no studies concerning a role of IL-36. The goal of the study was to analyze whether interleukin 36 is involved in pathogenesis of DH, BP, and PV. And the second aim of the study was the estimation of correlation between Il-36 and IL-17 and titers of specific antibodies in these diseases. Expression of IL-36 and IL-17 was detected in serum in all DH, BP, and PV samples. Serum levels of IL-36 and IL-17α were statistically higher in DH, BP, and PV groups as compared to the control group. IL-36α levels were statistically higher in DH patients, as compared to patients with PV and BP. Our results showed that IL-36 may be helpful in the diagnostic and monitoring of the activity of the disease. IL 36 may play a relevant role of enrolling eosinophils and neutrophils in DH, BP, and PV and finally provoke tissue injury.

ABCB1 gene is associated with the risk of bullous pemphigoid in a polish population

Polymorphisms in the P‐glycoprotein‐encoding ABCB1 gene may affect the intracellular concentration of xenobiotics, and thus contribute to the development of autoimmune diseases, including bullous pemphigoid (BP). The objective of the present study was to investigate whether there is an association between the C3435T and G2677T/A polymorphisms in the ABCB1 gene and the risk of BP in a Polish population.

Haplotypes of ABCB1 1236C >T (rs1128503), 2677G >T/A (rs2032582), and 3435C >T (rs1045642) in patients with bullous pemphigoid

Bullous pemphigoid (BP) constitutes the most prevalent disease in the group of bullous dermatoses with the autoimmune background. Some authors suggest that certain cytokines (IL-2, IFN-γ) may be transported by P-glycoprotein (P-gp), the product of the ABCB1 gene. ABCB1 polymorphism might affect not only the effectiveness of treatment with drugs that are P-gp substrates but also contribute to the development of diseases, including BP. In the present work, we resolved to conduct a haplotype analysis of ABCB1 in patients with BP and to answer the question of whether any of the haplotypes are able to affect the incidence of this entity. The study involved 71 patients with BP and 100 healthy volunteers. Determination of polymorphisms 1236C > T and 3435C > T in ABCB1 was carried out with the PCR–RFLP (Polymerase Chain Reaction–Restriction Fragment Length Polymorphism) method. The 2677G > T/A ABCB1 polymorphism was analyzed with the allele-specific PCR method. It was observed that the 1236T-2677G-3435T haplotype occurred with a statistically significantly lower frequency in patients with BP than in controls (1.4 vs. 10.0%). Carriers of this haplotype were also shown to have had a low relative risk for BP (OR = 0.13, p = 0.003). Haplotype analysis of ABCB1 conducted in patients with BP demonstrated that the 1236T-2677G-3435T haplotype may protect against development of this entity.

ABCB1 -Gen-Polymorphismus in einer polnischen Kohorte ist mit Risiko für bullöses Pemphigoid assoziiert: ABCB1-Polymorphismus und das Risiko eines BP in einer polnischen Kohorte

Polymorphismen im ABCB1‐Gen, das für das P‐Glykoprotein kodiert, können die intrazelluläre Konzentration von Xenobiotika beeinflussen und so zur Entwicklung von Autoimmunerkrankungen, einschließlich des bullösen Pemphigoids (BP), beitragen. In der vorliegenden Studie sollte untersucht werden, ob in einer polnischen Kohorte die C3435T‐ und G2677T/A‐Polymorphismen im ABCB1‐Gen mit dem Risiko für ein BP assoziiert sind.

Pseudoporphyria secondary to renal failure

Introduction. Pseudoporphyria is a rare disease associated with chronic renal failure. Symptoms of pseudoporphyria may develop in response to UV exposure and medications. The literature reports cases of pseudoporphyria in patients infected with hepatis C virus, HIV and undergoing dialysis therapy. Objective. Presentation of the case of a patient with pseudoporphyria and uraemic pruritus, and overview of therapeutic management. Case report. A 64-year-old male patient, who had been on dialysis for chronic renal failure secondary to type 2 diabetes for the past 11 years, presented with tense bullae located on sun-exposed skin which had persisted for the previous 5 months. The patient was diagnosed with pseudoporphyria, and treatment was prescribed including N-acetylcysteine, chloroquine, paroxetine and mianserin. An improvement in the patient’s clinical condition and a regression of pruritus were achieved. Conclusions. Patients with renal failure may develop symptoms of pseudoporphyria requiring differentiation from porphyria cutanea tarda.

Diseases presenting with vesicular and erosive lesions of oral mucous membranes

Disorders of the oral mucosa are an area of interdisciplinary cooperation involving physicians from a diverse range of medical specialties. Diseases characterized by a similar mucosal abnormalities include lichen planus, pemphigus vulgaris, paraneoplastic pemphigus, mucous membrane pemphigoid, epidermolysis bullosa acquisita, linear IgA bullous dermatosis and chronic ulcerative stomatitis.

Diagnostic and therapeutic guidelines of dermatitis herpetiformis (Duhring’s disease) – consensus of Polish Dermatological Society

Dermatitis herpetiformis (Duhring’s disease) is an autoimmune blistering dermatosis with a characteristic polymorphic, itchy rash. The autoimmune process against transglutaminases (TGs) is connected with asymptomatic or with mild symptoms of gluten-sensitive enteropathy (GSE). The diagnostic approach in DH should rely on clinical evaluation, direct immunofluorescence of perilesional skin and evaluation of serum IgA antibodies with ELISA with one substrate of four substrates from which to choose (tTG, eTG, npG, neo-tTG) using the ELISA Diagnostyka i postępowanie terapeutyczne w opryszczkowatym zapaleniu skóry (chorobie Duhringa) – konsensus Polskiego towarzystwa Dermatologicznego Diagnostic and therapeutic guidelines of dermatitis herpetiformis (Duhring’s disease) – consensus of Polish Dermatological Society Agnieszka Żebrowska1, elżbieta Waszczykowska1, cezary Kowalewski2, Katarzyna Woźniak2, Małgorzata Olszewska2, Waldemar Placek3, rafał czajkowski4, Jacek Szepietowski5, rafał białynicki-birula5, Marian Dmochowski6 1Katedra i Klinika Dermatologii i Wenerologii Uniwersytetu Medycznego w Łodzi 2Klinika Dermatologiczna Warszawskiego Uniwersytetu Medycznego 3 Klinika Dermatologii, Chorób Przenoszonych Drogą Płciową i Immunologii Klinicznej Uniwersytetu Warmińsko-Mazurskiego