[show abstract][hide abstract] 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
[show abstract][hide abstract] 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
[show abstract][hide abstract] 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
[show abstract][hide abstract] 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
[show abstract][hide abstract] 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.
[show abstract][hide abstract] 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.
[show abstract][hide abstract] 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.
[show abstract][hide abstract] 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.
[show abstract][hide abstract] 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.
[show abstract][hide abstract] 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
[show abstract][hide abstract] 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
[show abstract][hide abstract] 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.
[show abstract][hide abstract] ABSTRACT: The paper presents current opinions on aetiopathogenesis of dry skin including its occurrence in the course of certain dermatological disorders. A meaning of natural moisturizing factor, lipid barrier as well as epidermal differentiation processes in the maintenance of the proper skin moisturization is described. The importance of topical treatment is emphasized. Moreover, a survey of moisturizing factors applied in dry skin care is included.
Annales Academiae Medicae Stetinensis 01/2008; 54(3):54-7.
[show abstract][hide abstract] ABSTRACT: In the current study, we evaluated the possible associations of seven common variants of the DNA repair and cell cycle control genes BRCA2 and CHEK2 with malignant melanoma (MM). We genotyped 630 unselected MM patients and over 3700 controls (newborns, age- and sex-matched healthy adults with negative cancer family histories, and the adults selected at random by family doctors) for the prevalence of three common variants of the BRCA2 (T1915M, N991D and N372H) and four common variants of the CHEK2 (1100delC, VS2+1G --> A, I157T and del5395). Our study strongly suggests that the common variant of the BRCA2 gene -- the N991D variant is associated with malignant melanoma risk (OR=1.8, p=0.002 after Bonferroni correction). Patients homozygote for the N991D variant were present in 0.32% of cases and only 0.13% of controls. The other variants studied were not over-represented among MM patients when compared to the general population. In conclusion, we report an increased melanoma risk among carriers of the N991D change of the BRCA2 and no association of the CHEK2 changes with malignant melanoma.
European Journal of Cancer 01/2008; 44(1):110-4. · 5.06 Impact Factor
[show abstract][hide abstract] ABSTRACT: We sought to examine the association between MC1R variants and the risk of melanoma and breast cancer in Polish population. We also determined the prevalence of compound heterozygous carriers of MC1R and CDKN2A (A148T) variants. We examined 500 unselected melanoma cases, 511 consecutive invasive breast cancer patients, 800 newborns, 421 healthy adults matched for sex and age with the melanoma cases and 511 healthy women matched for sex and age with the breast cancer cases. A statistically significant association of all 4 MC1R variants with the melanoma risk was found. For the R151C variant p value was 0.000008 and odds ratio 2.9; for the V60L variant p value was 0.007 and OR 1.78; for the R160C p was 0.006 and OR 1.76; for the R163Q p was 0.015 and odds ratio 2.1. None of the compound heterozygotes were significantly over-represented among any of the melanoma cases, the highest OR (4.2) observed in patients harbouring the A148T variant in CDKN2A and the R151C variant in MC1R. Positive association was found between carrying any of the MC1R variants and (i) increased occurrence of melanoma among I degree relatives of the carriers; (ii) increased occurrence of melanoma on UV-non-exposed skin areas. We also observed a tendency of increased risk of multiple melanomas among carriers of MC1R variants. The haplotype analysis demonstrates that MC1R variants do not co-occur in cis, compound carriers have both alleles affected. We found no association with the MC1R variants and breast cancer risk. In conclusion, the results of this population-based study show herein that MC1R variants are associated with increased melanoma risk in the Polish population. The risk of disease seems to be increased additively for patients harbouring also the CDKN2A common variant A148T.
International Journal of Cancer 01/2007; 119(11):2597-602. · 6.20 Impact Factor
[show abstract][hide abstract] ABSTRACT: The aim of the study was to introduce thermography in the evaluation of thermal reaction in the facial skin exposed to superficial cooling with application of snow paste in patients with rosacea and in healthy controls.
MATERIAL AND METHODS: The study enrolled 40 individuals including 20 rosacea patients and 20 healthy volunteers without any clinical, mycological and parasitic lesions in facial skin. Superficial cooling was applied using snow paste i.e. mixture of solid carbon dioxide and ether. Both, the areas of the face with rosacea lesions in patients and the corresponding skin areas in healthy volunteers were exposed to carbon dioxide snow . The skin was stimulated with massage using snow paste with light pressure lasting from 5 to 8 s (including each cheek area for ca 0.5 s). The distribution of temperature changes in the treated skin areas was monitored with a ThermaCAMTM SC 500 thermovision camera. Thermal images were analyzed using the computer software ThermaCAM Reporter 2000 Professional and the following temperature parameters: Tmax- maximal temperature, Tmin- minimal temperature; Tavg- average temperature were displayed
RESULTS: The baseline mean temperature of the cheek skin in patients with rosacea was 1.8 °C higher than the mean skin temperature of the cheek in healthy volunteers. Following the application of carbon dioxide snow to the facial skin, the skin temperature returned faster to baseline readings (after 3 minutes on the average) in rosacea patients than in the control group which showed a slower temperature recovery (baseline values were established after 6 minutes on the average). 10 minutes after cooling the final average temperature (Tavg) was by 1.4 °C higher than the baseline readings in rosacea patients, and by 0.4 °C in healthy volunteers.
CONCLUSION: The period of thermal recovery of the same areas of facial skin in response to superficial cooling is shorter in rosacea patients than in healthy volunteers.