Romuald Maleszka

Pomeranian Medical University in Szczecin, Stettin, West Pomeranian Voivodeship, Poland

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Publications (35)67.48 Total impact

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    ABSTRACT: The E318K mutation in the MITF gene has been associated with a high risk of melanoma, renal cell carcinoma, and pancreatic cancer; the risk of other cancers has not been evaluated so far. Herein, we examined the possible association of E318K and a novel variant of the MITF gene, V320I, with the risk of cancers of different sites of origin in a Polish population. We assayed for the presence of the E318K and V320I missense mutations in 4,226 patients with one of six various cancers (melanoma or cancer of the kidney, lung, prostate, colon, or breast) and 2,114 controls from Poland. The E318K mutation was detected in 4 of 2,114 participants (0.19%) in the Polish control population, the V320I in 3 of 2,114 participants (0.14%) in the control group. We found no statistically significant differences in the prevalence of the E318K and V320I variants among cases and controls. We found two carriers of the E318K variant among melanoma patients (P = 0.95), one carrier among breast cancer patients (P = 0.77), one carrier among colorectal cancer patients (P = 0.82), and one carrier among kidney cancer patients (P = 0.64). Our study demonstrates a lack of strong association of E318K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon.
    Cancer Genetics 03/2014; · 1.92 Impact Factor
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    ABSTRACT: The Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a rare phakomatosis which comprises a nevus sebaceous of Jadassohn, seizures and developmental delay associated with a wide spectrum of extracutaneous abnormalities including neurological, skeletal, ocular, cardiovascular and urogenital defects. We are presenting a case of an 18-year-old patient with systemic features of the SFM syndrome and an extensive linear nevus sebaceous partially removed with a carbon dioxide (CO2) laser. The treatment options of skin lesions in patients with SFM are discussed.
    Postepy Dermatologii I Alergologii 10/2013; 30(5):320-3. · 0.66 Impact Factor
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    ABSTRACT: Psoriasis vulgaris is a genetically heterogenous disease with unclear molecular background. We assessed the association of psoriasis and its main clinical phenotypes with common variants of three potential psoriasis susceptibility genes: ZNF750, RPTOR and TRAF31P2. We genotyped 10 common variants in a cohort of 1,034 case-control individuals using Taqman genotyping assays and sequencing. Minor alleles of all four TRAF3IP2 variants were more frequent among cases. The strongest, significant association was observed for rs33980500 (OR = 2.5, p = 0.01790). Minor allele of this SNP was always present in two haplotypes found to be associated with increased psoriasis risk: rs13196377_G + rs13190932_G + rs33980500_T + rs13210247_A (OR = 2.7, p = 0.0054) and rs13196377_A + rs13190932_A + rs33980500_T + rs13210247_G (OR = 1.8, p = 0.0008). Analyses of clinically relevant phenotypes revealed association of rs33980500 with pustular psoriasis (OR = 1.2, p = 0.0109). We observed significant connection of severity of cutaneous disease with variation at rs13190932 and suggestive with three remaining TRAF3IP2 SNPs. Another positive associations were found between age of onset and familial aggregation of disease: smoking and younger age of onset, smoking and occurrence of pustular psoriasis, nail involvement and arthropatic psoriasis, nail involvement and more severe course of psoriasis. We found no statistically significant differences in the prevalence of the examined variants of RPTOR and ZNF750 genes among our cases and controls. We have replicated the association of TRAF3IP2-_rs33980500 variant with the susceptibility to psoriasis. We have found new associations with clinically relevant subphenotypes such as pustular psoriasis or moderate-to-severe cases. We ascertain no connection of RPTOR and ZNF750 variants with psoriasis or its subphenotypes.
    Archives for Dermatological Research 09/2013; · 2.71 Impact Factor
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    ABSTRACT: Follow-up studies of psoriasis patients indicate an increased risk in the occurrence of malignancies at different sites of origin. Population stratification and/or complicated interpretation of evidence on the risk of cancer (due to the small number of patients included in most series) lead to inconsistent data. Herein we investigated the risk of occurrence of malignancies at different sites of origin in a series of 517 psoriasis patients and their 1st degree relatives. We evaluated the tumour spectrum as well as the age of the patient at diagnosis of cancers in psoriasis families along with the observed and expected frequencies of malignancies. The distribution of 17 common mutations/polymorphisms in 10 known cancer susceptibility genes among psoriasis patients and 517 matched healthy controls were examined. No such study has been published to date. The statistical comparison of the observed and expected frequencies of cancers revealed a higher than expected occurrence of Hodgkin's lymphoma among males in psoriasis families when compared to the general population (OR=1.8, 95%CI 1.6-2.1, p=0.002). There was a non-significant tendency towards a younger age of onset and overrepresentation of laryngeal cancer and leukaemia in psoriasis families. We found no major differences in the distribution of cancer susceptibility mutations among our cases and the healthy controls. The results of our study suggest an increased risk of Hodgkin's lymphoma for male members of psoriasis families. Further studies are needed to confirm the findings and to evaluate whether or not the application of cancer surveillance protocols for Hodgkin's lymphoma, leukaemia and laryngeal cancer are justified in these families.
    Hereditary Cancer in Clinical Practice 06/2013; 11(1):6. · 1.71 Impact Factor
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    ABSTRACT: This is the first large case-control study that evaluates the association of 94 XP SNPs with malignant melanoma risk in Slavic (Polish) population. The paper adds important results to the growing but still not completely consistent literature data regarding XP changes and melanoma risk. Xeroderma pigmentosum is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. The presence of a distinct NER mutation signature in melanoma suggests that perturbations in this critical repair process are likely to be involved with disease risk. We hypothesized that persons with polymorphic NER gene(s) are likely to have reduced NER activity and are consequently at an increased risk of melanoma development. We assessed the association between 94 SNPs within 7 XP genes (XPA-XPG) and the melanoma risk in the Polish population. We genotyped 714 unselected melanoma patients and 1841 healthy adults to determine if there were any polymorphisms differentially represented in the disease group. We found that a significantly decreased risk of melanoma was associated with the XPC rs2228000_CT genotype (OR=0.15; p<0.001) and the rs2228000_TT genotype (OR=0.11;p<0.001) compared to the reference genotype. Haplotype analysis within XPC revealed the rs2228001_A + G1475A_G + G2061A_A + rs2228000_T + rs3731062_C haplotype (OR=0.26; p<0.05) was associated with a significantly decreased disease risk. The haplotype analysis within XPD showed a modest association between 2 haplotypes and a decrease in melanoma risk. There were no major differences between the prevalence of the XP polymorphisms among young or older patients with MM. Linkage disequilibrium of XPC: rs2228001, G1475A, G2061A, rs2228000 and rs3731062 was found. The data from this study supports the notion that only XPC and XPD genes are associated with melanoma susceptibility. © 2013 Wiley Periodicals, Inc.
    International Journal of Cancer 02/2013; · 6.20 Impact Factor
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    ABSTRACT: Xeroderma pigmentosum is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. The presence of a distinct the nucleotide excision repair (NER) mutation signature in melanoma suggests that perturbations in this critical repair process are likely to be involved with disease risk. We hypothesized that persons with polymorphic NER gene(s) are likely to have reduced NER activity and are consequently at an increased risk of melanoma development. We assessed the association between 94 SNPs within seven XP genes (XPA–XPG) and the melanoma risk in the Polish population. We genotyped 714 unselected melanoma patients and 1,841 healthy adults to determine if there were any polymorphisms differentially represented in the disease group. We found that a significantly decreased risk of melanoma was associated with the Xeroderma pigmentosum complementation (XPC) rs2228000_CT genotype (odds ratio [OR] = 0.15; p p XPC revealed the rs2228001_A + G1475A_G + G2061A_A + rs2228000_T + rs3731062_C haplotype (OR = 0.26; p XPD) showed a modest association between two haplotypes and a decrease in melanoma risk. There were no major differences between the prevalence of the XP polymorphisms among young or older patients with melanoma. Linkage disequilibrium of XPC: rs2228001, G1475A, G2061A, rs2228000 and rs3731062 was found. The data from our study support the notion that only XPC and XPD genes are associated with melanoma susceptibility.
    International Journal of Cancer 01/2013; 133(5). · 6.20 Impact Factor
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    ABSTRACT: The case of a 62-year-old female patient diagnosed with an extremely rare clinical variant of pemphigoid--nodular pemphigoid, imitating prurigo nodularis, is presented in the paper. In connection with the existence of the typical prurigo nodularis-like appearance in the patient, the diagnosis was maintained for several months. However, because of no response to the treatment and the remarkably chronic course of the disease, the patient was admitted to the Department in order to extend the diagnostics and verify the previous diagnosis. The direct and indirect immunofluorescence examinations performed on the patient enabled the final diagnosis of a rare variant of pemphigoid without typical blisters, and effective treatment was carried out.
    Annales Academiae Medicae Stetinensis. 01/2013; 59(2):67-70.
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    ABSTRACT: Psoriasis is a chronic inflammatory dermatosis leading to the development of systemic inflammatory reaction. Previous data indicated the coexistence of psoriasis and the occurrence of metabolic disorders, with the common background of both processes determined by a chronic inflammation. The coexisting disorders, including type 2 diabetes, hypertension, heart ischemic disease, dislipidemia and obesity may have an important impact on intensity of psoriasis activity.
    Annales Academiae Medicae Stetinensis. 01/2013; 59(2):12-7.
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    ABSTRACT: Matrix metalloproteinases (MMPs) are implicated in the development of cancers including malignant melanoma (MM) and breast cancer. We tested the possible association of MMP1 and MMP8 gene variation with these two types of cancer. We genotyped 300 unselected patients with MM, 300 consecutive breast cancer cases, 300 controls for melanoma, and 300 controls for breast cancer (age-matched and sex-matched healthy adults with negative cancer family histories). Our study showed that the MMP8 gene rs11225395 polymorphism was associated with the risk of developing MM (odds ratio: 1.69; 95% confidence interval: 1.02-2.80; P=0.040) for the A/A genotype and 1.49 (95% confidence interval: 1.03-2.17; P=0.035) for the A/G genotype compared with the G/G genotype. The A allele was over-represented among MM cases compared with controls (odds ratio=1.54; P=0.017). In-vitro assays showed that the A allele had a higher promoter activity than the G allele in melanoma cells. No association was detected between this variant and breast cancer susceptibility. We found no strong association between MMP1 variation and the risk of MM or breast cancer. The finding of this study indicates an influence of MMP8 gene variation on melanoma susceptibility.
    Melanoma research 06/2011; 21(5):464-8. · 2.06 Impact Factor
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    ABSTRACT: Antimalarial drugs--chloroquine, hydroxychloroquine and quinacrine, initially devised for the treatment of malaria, have been used in the therapy of diverse skin diseases, including lupus erythematosus, dermatomyositis, porphyria cutanea tarda, and sarcoidosis. The mechanism of action of these drugs involves stabilization of lysosomal enzymes, inhibition of antigen-presenting cells and T lymphocyte stimulation, blocking of the pro-inflammatory cytokine cascade and endosomal toll-like receptor signaling. The understanding of potential mechanisms of action of antimalarials may extend their use to new areas in dermatology. This work describes the pharmacologic properties of antimalarial drugs and indications for their use in clinical practice. Moreover, the most important limitations of therapy with antimalarials and their adverse side effects are discussed.
    Annales Academiae Medicae Stetinensis 01/2011; 57(1):38-44.
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    ABSTRACT: Vitiligo is an idiopathic chronic skin disease that is notable for depigmented macules forming by destruction of melanocytes mediated by cells of the immune system. Vitiligo occurs in 1-2% of the population irrespective of race and without predilection to gender or age. The dynamics and extent of the disease vary widely, ranging from stable cases with isolated minor foci to states showing rapid progression and occupying large areas of the skin. For many patients, the disease represents a serious cosmetic defect which limits their activities in various spheres of life. There are many noninvasive methods of treatment but none of them offers a guarantee of complete therapeutic success. PUVA- and UVB-therapy are recognized as the most effective and most commonly used methods. The management of vitiligo should also include education, cosmetic correction options, and psychotherapy in some cases.
    Annales Academiae Medicae Stetinensis 01/2011; 57(3):23-7.
  • Indian journal of dermatology, venereology and leprology 01/2011; 77(2):253. · 0.98 Impact Factor
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    ABSTRACT: An abstract is unavailable. This article is available as HTML full text and PDF.
    Melanoma research 04/2010; 20(2):159-60. · 2.06 Impact Factor
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    ABSTRACT: Clinical symptoms attributed to the nail apparatus and observed in cosmetology include atrophic or hypertrophic lesions, pathologic nail coloration, abnormalities of the nail surface, and disorders of the nail plate and bed junction. These symptoms may reflect pathologic processes limited to the nail apparatus or may be the consequence of a dermal or systemic disease. Even though the etiology of nail lesions is variegated, diseases of the nails are simply classified as infectious or non-infectious. The aim of this work was to present the most common diseases of the nail apparatus encountered in cosmetology. Often, nail diseases worsen the quality of life of the patient. In addition, the variegated symptomatology demonstrates that nail lesions should be viewed in a wider perspective because they often are important signs of pathologic processes taking place in the organism of the patient.
    Annales Academiae Medicae Stetinensis 01/2010; 56(1):57-64; discussion 64.
  • Clinical and Experimental Dermatology 10/2009; 35(4):445-7. · 1.33 Impact Factor
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    ABSTRACT: There is continuing interest in identifying low-penetrance genes which are associated with an increased susceptibility to common types of cancer, including malignant melanoma. We sought to examine the association between four VDR common variants (rs1544410, rs731236, rs10735810, rs4516035) and the risk of melanoma in the Polish population. We also determined the prevalence of compound carriers of VDR and known MM genetic risk factors MC1R and CDKN2A (A148T) variants. We examined 763 unselected melanoma cases, 763 healthy adults matched for sex and age with the melanoma cases and 777 newborns. None of the VDR variants alone or as compound carriers of two or more of the VDR genotypes were associated with MM risk. There were no major differences between the prevalences of the examined variants among patients with MM on UV-exposed and UV-non exposed skin areas, as well as among early-onset and late-onset cases. We found no association between VDR and MC1R or between VDR and CDKN2A common variants. A statistically significant over-representation of one VDR haplotype: rs731236_A+rs1544410_T (OR=3.2, p=0.02) was detected. Linkage disequilibrium of rs1544410 and rs731236 was confirmed. To answer the question, whether VDR can be regarded as melanoma susceptibility gene, additional, large multi-center association studies have to be performed.
    Cancer epidemiology. 09/2009; 33(2):103-7.
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    ABSTRACT: Erythematotelangiectatic skin is a common cosmetic and medical problem. Flushing or persistent erythema, teleangiectasias, and occasionally other inflammatory skin lesions can be caused by internal or environmental factors. Certain physiologic reactions and systemic or dermatologic diseases represent internal conditions leading to visible skin flushing in the blush area. Erythematotelangiectatic skin is found in body areas which are particularly exposed to various environmental factors and perform important esthetic functions at the same time. Determination of the main etiopathologic factor responsible for flushing in the blush area precedes the selection of an adequate method of care, correction or treatment of the erythematotelangiectatic skin. The main aim of this study was to analyze fundamental mechanisms of flushing or persistent erythema and their sequellae basing on the literature. Another aim was to review current diagnostic options useful in examining the etiology and severity of erythematotelangiectatic skin symptoms.
    Annales Academiae Medicae Stetinensis 01/2009; 55(1):58-65; discussion 65.
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    ABSTRACT: Rowell's syndrome (RS) is a rare type of coexistence of one of the lupus erythematosus (LE) types (systemic, subacute cutaneous or discoid) and erythema multiforme (EM) (including toxic epidermal necrolysis). We present the case of a 51-year-old patient with a diagnosis of RS, most probably caused by drugs given as psychiatric treatment. After cessation of sodium valproate and initiation of treatment with prednisolone, a spectacular clinical remission was achieved. The likely role of psychiatric drugs, namely sodium valproate and sertraline, as triggering factors, is discussed.
    Clinical and Experimental Dermatology 12/2008; 34(6):702-4. · 1.33 Impact Factor
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    ABSTRACT: In this report the contribution of CDKN2A/ARF germline mutations to early-onset cancers of the breast, pancreas and malignant melanoma was examined. We screened 66 women with breast cancer diagnosed at age 30 and below, 72 melanoma patients with the median age at diagnosis < or = 40 years and 51 pancreatic cancer patients diagnosed under the age of 50 years. In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma.
    European journal of cancer prevention: the official journal of the European Cancer Prevention Organisation (ECP) 11/2008; 17(5):389-91. · 2.21 Impact Factor
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    ABSTRACT: Every adverse and undesirable event observed after administration of the therapeutic dose of the drug is defined as adverse drug reaction. The aim of the study was to evaluate the incidence frequency of cutaneous adverse drug reactions, to define the drugs inducing such reactions and to define the type of the most frequently found lesions in patients admitted to Department of Dermatology and Venereology of Pomeranian Medical University in Szczecin (PAM) in 1996-2006. A retrospective analysis of medical files of the patients, who were hospitalized in the Department of Dermatology and Venereology of PAM in Szczecin in 1996-2006, was carried out. Due to cutaneous adverse drug reactions, 386 patients were hospitalized. They made 4.25% of all admitted to our Department. These reactions were found more frequently in females (65.5%) than in males (34.5%). Non-steroidal anti-inflammatory drugs induced adverse events most frequently (37.6%), followed by aminopenicillin antibiotics, particularly amoxycillin-containing agents, responsible for 25.8% of these reactions. Other antibiotics were responsible for undesirable events less frequently--9.6%. Macular and maculopapular rashes were the most frequently observed adverse cutaneous drug reactions (42.0% of the cases), followed by acute urticaria and Quincke's oedema (39.1% of all reactions), whereas contact dermatitis after topical drugs was found in 8.0% of the cases. Cutaneous adverse drug reactions were mainly induced by non-steroidal anti-inflammatory drugs and aminopenicillin antibiotics. The most frequent forms of cutaneous adverse drug reactions were maculopapular rashes, acute urticaria and Quincke's oedema.
    Annales Academiae Medicae Stetinensis 02/2008; 54(2):52-8.