Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.

BACKGROUND: Gap junction protein beta 2 (GJB2) upregulation in psoriasis transcriptome analysis as well as connexin 26 (Cx26, encoded by GJB2) expression upregulation in psoriatic plaques has already been substantiated. GJB2 rs72474224 and rs3751385 have been correlated with psoriasis vulgaris incidence in Chinese populations. Here we study the effect of rs3751385 in patients suffering from psoriasis vulgaris in a Caucasian Greek population at the prefecture of Thrace in Northern Greece. METHODS: One hundred and seventy-three (111 males and 62 females) psoriatic patients (108 were of early-onset psoriasis) and 171 matched controls were included in the study. Genomic DNA was extracted from peripheral blood leukocytes and genotyping was carried out by polymerase chain reaction-restriction-fragment length polymorphism (PCR-RFLP). RESULTS: A statistically significant lower frequency of C/T genotype in late-onset male psoriasis vulgaris (P = 0.029) as well as of T allele in female early-onset psoriasis vulgaris (P = 0.049) were ascertained. CONCLUSIONS: On condition that all other genetic or environmental factors remain stable, the existence and possible interaction between GJB2 rs3751385 C and T alleles in male psoriatic patients may be considered as protective gene component against late-onset psoriasis appearance, while presence of the T allele in female might block the histogenetic mechanisms of early-onset psoriasis lesions.

Assessment of Tachykinin Receptor 3' Gene Polymorphism rs3733631 in Rosacea.

Background. Rosacea is a chronic skin disease, possibly following the neurogenic skin inflammation model. Neurokinin B, involved in the pathogenesis of Parkinson's disease, frequently coexisting with subsequent onset of rosacea, is an endogenous ligand of the tachykinin receptor 3 (TACR3). Methods. 128 rosacea patients and 121 matched controls were genotyped for rs3733631 by PCR-RFLP and analyzed by chi-square test. Results. We observed statistically significant predominance of the C/G or G/G genotype (p = 0.006) and of the G allele (p = 0.004) in the papulopustular (PP) form of rosacea and statistically marginal significance of the C/G or G/G genotype in erythematotelangiectatic (ET) rosacea (p = 0.052). Significantly higher frequency of the C/G or G/G genotype and G allele in PP rosacea (p = 0.021 and p = 0.008, resp.) was ascertained within male patients. Conclusion. TACR3 rs3733631 G allele possibly predisposes the evolution of the initial phase of rosacea to the PP and not the ET form in male patients.

Assessment of Leptin Gene Polymorphism rs2060713 in Psoriasis Vulgaris.

Psoriasis is a lifelong disorder characterized by approximately 8-fold reduction of the duration of normal skin keratinocyte cell cycle and 2-fold increase of the number of dividing cells. Multiple genes, several environmental factors, and immune system alterations are involved in the pathogenesis of psoriasis. Hyperleptinemia is associated with psoriasis and leptin acts as an angiogenic factor. Angiogenetic processes precede the epidermal hyperplasia in psoriasis, indicating possible involvement of leptin in the pathogenesis of psoriasis. Leptin gene polymorphisms and their association with psoriasis have been given very little attention. We present a study of the rs2060713C/T genetic polymorphism in the pathogenesis of psoriasis vulgaris in 263 vulgaris patients and 252 unrelated matched healthy controls. No statistically significant differences were observed between patients and controls. A statistically nonsignificant trend was observed in males with the early onset type of psoriasis (11.1% C/T in patients versus 5.6% in controls) and in females with the late onset type of the disease (12.8% C/T in patients versus 3.3% in controls). Still, there is no hard evidence on correlation of psoriasis vulgaris with this polymorphism. Possible association with specific forms of the disease and either gender needs further investigation in larger studies.

Assessment of Interleukins IL-4, IL-6, IL-8, IL-10 in Acute Urticaria.

BACKGROUND: Urticaria is a skin disease that affects approximately 5% of the general population and manifests itself, not only as an acute but also as a chronic disease. The etiology of the disease varies as well as its clinical manifestations which extend from the presence of urticarial hives to the potentially mortal angioedema. There is a great interest to the disease not only due to its special clinical manifestation but also due to its pathogenetic mechanism. New data in the medical bibliography support the participation of interleukins (ILs) in the pathophysiology of urticaria. The aim of the study is to contribute in the comprehension of possible participation of certain ILs in the pathogenesis of acute urticaria. METHODS: Our study concerns four ILs, IL-4, IL-6, IL-8 and IL-10, simultaneously and their quantitative changes during the acute phase of urticaria as well as 2 weeks after drug administration. Moreover, ILs levels of patients were compared with those of matched healthy controls. All measurements have been done by the ELISA method. The statistical analysis was done by SPSS. RESULTS: The results present increased levels (in 51 patients vs. 22 matched healthy controls) of all four ILs during the acute phase. Especially for IL-4 this increase was statistically very significant (P < 0.001). Statistically marginally significant decrease was also observed for IL-10 concentrations (P < 0.059), for the two blood samples (acute phase and 2 weeks later). CONCLUSION: It is suggested by the present study that certain ILs might play an important role in the pathogenetic mechanism of urticaria. IL-4 and IL-10 participation seems to be relatively more significant. Possibly, ILs, liberated by mast cells, induce an influx of leukocytes in the dermis, therefore participating in the development of acute urticaria inflammation.

notch2, notch4 gene polymorphisms in psoriasis vulgaris.

BACKGROUND: Evidence suggests that Notch gene aberrations may be involved in the clinical expression of psoriasis. There are reports of Notch2 receptor expression peculiarities in psoriatic skin and others, indicating that VEGF-induced Notch4 overexpression promotes endothelial cell morphology alterations and that increased dermis vessel permeability histogenetically precedes the development of psoriatic lesions. OBJECTIVE: To investigate the correlation of polymorphisms in Notch2 and Notch4 genes with the appearance of psoriasis vulgaris. MATERIAL AND METHODS: Up to 305 patients suffering from psoriasis vulgaris were included in the study, genotyped by either real time quantitative PCR or PCR-RFLP. RESULTS: We observed: (a) Notch2: Statistically significant predominance of T/C genotype in male patients (p=0.037); (b) Notch4: Significantly higher frequency of the SNP1 T/T genotype (p=0.039) in psoriatic females; significant predominance of the SNP2 G/G and A/G (p=0.014) genotypes in female patients with late onset psoriasis (p=0.001). CONCLUSION: This study supports the involvement of both Notch2 and Notch4 in the pathogenesis of psoriasis vulgaris. Pathogenetic participation of Notch2 seems more evident in male patients, possibly early onset, while that of Notch4 is more evident in late onset female patients.

Acquired reactive perforating collagenosis: current status.

Acquired reactive perforating collagenosis is a unique perforating dermatosis, characterized clinically by umbilicated hyperkeratotic papules or nodules and histologically by a focal hyperkeratosis in direct contact with transepidermal perforating dermal collagen. Several inflammatory or malignant systemic diseases may coexist with acquired reactive perforating collagenosis. The possible biochemical or immunological mechanisms of the systemic diseases, potentially responsible for the development and appearance of acquired reactive perforating collagenosis, are still under investigation. Several topical treatments, ultraviolet B phototherapy and allopurinol p.o. administration may be effective.

Epidemiology of surgical treatment of nonmelanoma skin cancer of the head and neck in Greece.

BACKGROUND: Nonmelanoma skin cancer (NMSC) constitutes the most common malignancy in Caucasians. Epidemiological data derive, mainly, from studies in the United States, Australia, and Northern Europe, whereas data from Mediterranean Europe are scarce. OBJECTIVE: To provide information on the epidemiology of surgically treated NMSC of the head and neck in the region of Thrace, Northern Greece, and to evaluate the surgical treatment given. METHODS: A retrospective review of patients surgically treated from 2004 to 2006 was conducted. Data on demographics, histology and skin cancer characteristics, and treatment efficacy and recurrence rate were extracted and analyzed. RESULTS: One hundred seventy-nine NMSCs of the head and neck were excised and histopathologically confirmed in 160 patients, with the majority (58.7%) classified as Fitzpatrick skin type III. Histology included 125 basal cell carcinomas (BCCs) and 54 squamous cell carcinomas (SCCs). The mean age was 70.6 +/- 10.1 (range 38-97). Tumor size ranged between 2 and 50 mm. Excision with 5-mm margins was performed in every case, and the defects were closed mainly using local flaps. Incomplete excision was limited to 3.9% of cases, and the recurrence rate was 1.7%. The study revealed similar characteristics between BCC and SCC regarding age and sex but significant differences in terms of location and size. CONCLUSIONS: Surgical resection achieves a satisfactory NMSC clearance rate in the head and neck.

Apolipoprotein E gene polymorphism in psoriasis.

Polymorphism in the apolipoprotein E gene has been associated with several neurological, cardiological and ophthalmological diseases. Apolipoprotein E is involved in psoriasis by modifying mitogen-activated T lymphocyte proliferation and by assuring protection against some infections. We evaluated the apolipoprotein E gene polymorphism in patients suffering from psoriasis (compared to matched controls) in Thrace, Northern Greece. One hundred and forty patients suffering from psoriasis vulgaris and 155 matched controls were included in this study and genotyped by semi-nested polymerase chain reaction RFLPs; the results were evaluated by conditional logistic regression. In psoriasis vulgaris patients, the e2 allele showed higher frequency (6.1%, P = 0.021) versus matched controls (2.3%). The above data were ascertained particularly enforced in psoriasis vulgaris male patients (P = 0.031) as well as in late onset psoriasis vulgaris (P = 0.029). Implication of apolipoprotein E in the pathogenesis of psoriasis has been indicated. Allele e2 is more frequent in psoriatic patients and its presence is more evident in late onset psoriasis vulgaris.

Extensive cutaneous anthrax in an immunocompetent patient.

Bacillus anthracis disease constitutes an extremely important worldwide epidemiological problem. Interest in cutaneous anthrax resides in its skin manifestations, course, diagnostic methods and management. An extensive cutaneous anthrax of the whole left upper arm, accompanied by lymphadenopathy and high fever, in a 60 year-old male patient, a shepherd by profession, is reported. He was treated effectively by intravenously administered ciprofloxacin and clindamycin. In the event of clinical suspicion of cutaneous anthrax, the patient has to be treated by the recommended regimen of antibiotics because of the possibility of evolvution to an extensive or severe systemic disease, even in the absence of immuno-depressant factors.

Perifolliculitis capitis abscedens et suffodiens successfully controlled with topical isotretinoin.

Perifolliculitis capitis abscedens et suffodiens (or dissecting folliculitis of the scalp or dissecting cellulitis of the scalp or dissecting perifolliculitis of the scalp) is a rare entity and constitutes the equivalent over the scalp, of hidradenitis suppurativa and acne conglobata. Etiologic factors are unknown. Diagnosis is proven histologically. Management is very difficult and consists in systemic administration or intralesional injection of several drugs or in surgical manipulations. An 18 year-old white patient with cystic infiltrations, alopecia plaques, pustules and other inflammatory elements (clinicohistological features consistent with dissecting folliculitis of the scalp), is presented. Isotretinoin topical application assured successful control of the disease and averted the evolution of the clinical aspect to scarring alopecia and nodule formation. Topical isotretinoin exercises a curative, inhibitory and antiproliferative action, in perifolliculitis capitis abscedens et suffodiens.

Ultrastructural immunocytochemistry of autoimmune bullous diseases.

Advanced immunopathological assays have been developed to elucidate the pathophysiology and provide more precise nosological definitions of the immunobullous diseases. Forty-seven patients suffering from autoimmune bullous diseases (intra- or subepidermal) were studied by immunoelectron microscopy (direct and indirect). Peroxidase staining was revealed by diaminobenzidine (determination of immune deposit location) in the majority of the cases of subepidermal bullous diseases, but in less than half of the cases of intraepidermal bullous diseases. Immunoelectron microscopy features contributed in verifying the diagnosis of rare entities such as cicatricial pemphigoid, paraneoplastic autoimmune bullous disease, linear IgA disease and epidermolysis bullosa acquisita.