RESUMO
Syphilis is the great imitator in medicine. Correct diagnosis of this disease can be quite difficult nowadays, after years of rare occurrence but current increasing incidence. Atypical manifestations of syphilis are often misinterpreted and lead to incorrect diagnosis and inappropriate therapy. We present the case of a 48-year-old man with recurrent penile ulcers and indurations that would temporarily heal with oral antibiotics. The most recent lesion had lasted longer than 6 weeks. Because of unsuccessful antibiotic and antiseptic treatment, we operated on the patient, suspecting penile cancer. The diagnosis of syphilis was finally performed by histology, with evolving exanthema and positive serological tests in the meantime. This case report is intended to emphasize the increased need to consider syphilis in the differential diagnosis.
Assuntos
Erros de Diagnóstico/prevenção & controle , Sífilis Cutânea/diagnóstico , Sífilis Cutânea/terapia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Penianas/diagnóstico , Neoplasias Penianas/terapiaRESUMO
BACKGROUND: The Kindler syndrome (KS) protein kindlin-1 is a member of a protein complex that links cortical actin to integrins on the surface of basal keratinocytes. Loss of kindlin-1 leads to abnormalities of cell adhesion and motility, and to skin blistering and progressive poikiloderma as clinical symptoms. OBJECTIVES: Here we investigated a severely affected patient, disclosed the mutation that caused the disease and delineated its biological consequences. METHODS: Mutation screening of the kindlin-1 gene, KIND1 (now called FERMT1), was performed with polymerase chain reaction (PCR) amplification of all exons and sequencing. Mutated kindlin-1 was characterized by reverse transcriptase (RT)-PCR and immunoblotting, and genotype-phenotype correlations were analysed using immunohistochemical staining of skin biopsies and keratinocytes from the patient's skin. Cell adhesion and motility were assessed with functional tests. RESULTS: We disclosed a splice site mutation in the first position of intron 13 of the FERMT1 gene, which caused skipping of exon 13. The short transcript partially escaped nonsense-mediated mRNA decay and was translated into a truncated protein. CONCLUSION: A C-terminally truncated kindlin-1 in keratinocytes could not function correctly even if it were expressed.
Assuntos
Adesão Celular/genética , Queratinócitos/citologia , Proteínas de Membrana/genética , Proteínas de Neoplasias/genética , Dermatopatias Genéticas/patologia , Adulto , Éxons , Mutação da Fase de Leitura , Humanos , Immunoblotting , Imuno-Histoquímica , Masculino , Reação em Cadeia da Polimerase , Dermatopatias Genéticas/genéticaRESUMO
Acne is treated according to the clinical picture and the pathophysiologically relevant mechanisms, such as seborrhea, follicular hyperkeratosis, P. acnes colonisation,and inflammation. In mild forms of acne, topical therapy is most appropriate. Comedonal acne can be treated with topical retinoids; papulopustular acne with a combination of retinoids and topical antimicrobial substances (benzoyl peroxide, antibiotics, or azelaic acid). Moderate forms or those with extrafacial involvement can be treated with oral antibiotics combined with topical retinoids or benzoyl peroxide. Acne conglobata and other severe manifestations are treated with oral isotretinoin. Women are also treated with oral contraceptives containing anti-androgenic progestins. If inflammation is prominent, initial short term treatment with oral glucocorticoids is helpful. Second-line agents include oral zinc or dapsone. Following successful treatment, topical retinoids are suitable for maintenance therapy.
Assuntos
Acne Vulgar/tratamento farmacológico , Antagonistas de Androgênios/uso terapêutico , Antibacterianos/uso terapêutico , Peróxido de Benzoíla/uso terapêutico , Retinoides/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , HumanosAssuntos
Doença de Darier/tratamento farmacológico , Fluoruracila/administração & dosagem , Imunossupressores/administração & dosagem , Adulto , Idoso , Vias de Administração de Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Timidilato Sintase/metabolismo , Resultado do TratamentoRESUMO
The impact of sexually transmitted diseases (STD) on male fertility is strongly dependent on the local prevalence of the STDs. In Western countries STD-infections are of minor relevance. In other regions, i.e. Africa or South East Asia, the situation appears to be different. Acute urethritis could not be associated with male infertility. Chronic infections (gonorrhoea) can cause urethral strictures and epididymo-orchitis. Chlamydia trachomatis and Neisseria gonorrhoea can be transmitted to the female partner and cause pelvic inflammatory disease with tubal obstruction. Ureaplasma urealyticum may impair spermatozoa (motility, DNA condensation). Trichomonas vaginalis has, if any, only minor influence on male fertility. The relevance of viral infections (HPV, HSV) for male infertility is not resolved. Any STD increases the chances of transmission of the human immunodeficiency virus (HIV). The HIV infection is associated with infectious semen and the risk of virus transmission. Semen quality deteriorates with the progression of immunodeficiency. Special counselling of serodiscordant couples is needed. STDs should be treated early and adequately to prevent late sequelae for both men and women.
Assuntos
Infertilidade Masculina/etiologia , Doenças Bacterianas Sexualmente Transmissíveis/complicações , Doenças Virais Sexualmente Transmissíveis/complicações , Humanos , Masculino , Prevalência , Fatores de RiscoRESUMO
BACKGROUND: Psoriasis is a chronic inflammatory skin disorder affecting about 2% of white-skinned individuals. Epidemiological data on the prevalence and degree of coronary artery calcification (CAC) as an indicator for cardiovascular diseases in patients with psoriasis are contradictory. OBJECTIVES: To study the prevalence and degree of CAC as an indicator for cardiovascular diseases in 32 patients with psoriasis matched for age, sex and risk factors to an equally sized control population. METHODS: Noncontrast-enhanced 16-row spiral computed tomography was performed in patients and controls. RESULTS: We found a significantly increased prevalence (59.4% vs. 28.1%, P = 0.015) and severity (CAC score according to Agatston 3.7 vs. 0.0, P = 0.019) of CAC in patients with psoriasis. Multiple linear regression calculations identified psoriasis as a likely independent risk factor for CAC. CONCLUSIONS: Our results point towards the potentially systemic nature of the inflammatory processes underlying the pathogenesis of psoriasis, which may therefore be considered a potentially severe systemic disease.
Assuntos
Calcinose/etiologia , Doença das Coronárias/etiologia , Psoríase/complicações , Adulto , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios XRESUMO
This is a prospective study to find out whether an interactive large-group case-based teaching approach combined with small-group bedside teaching improves student satisfaction and learning outcome in a practical dermatology course. During two consecutive terms a rotating system of large-group interactive case-study-method teaching with two tutors (one content expert, one process facilitator) and bedside teaching with randomly appointed tutors was evaluated with a nine-item questionnaire and multiple-choice test performed at the beginning and the end of the course (n = 204/231 students evaluable). The results of three different didactic approaches utilized over the prior year served as a control. The interactive course was rated significantly better (p < 0.0001) than the standard course with regard to all items. The aggregate mark given by the students for the whole course was 1.58-0.61 (mean +/- SD, range 1 (good)-5 (poor)). This was significantly better than the standard course (p < 0.0001) and not different from small-group teaching approaches. The mean test results in the final examination improved significantly (p < 0.01). The combination of large-group interactive teaching and small-group bedside teaching was well accepted, improved the learning outcome, was rated as good as a small-group didactic approach and needed fewer resources in terms of personnel.
Assuntos
Dermatologia/educação , Educação de Graduação em Medicina/métodos , Ensino/métodos , Análise de Variância , Currículo , Avaliação Educacional/normas , Humanos , Aprendizagem Baseada em Problemas/métodos , Estudos Prospectivos , Estatísticas não Paramétricas , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Psoriasis is considered as a chronic immune-mediated disease characterized by inflammation and proliferation of the epidermis. OBJECTIVES: Targeting intercellular adhesion molecule 1 (ICAM-1) is an attractive therapeutic option as this molecule is critically involved in leucocyte adhesion and extravasation as well as in lymphocyte activation. METHODS: We have selected the fully human monoclonal antibody MOR102 (#5) against ICAM-1 from the Human Combinatorial Antibody Library (HuCAL). This antibody, as human IgG4 [corrected] was tested for its ability to interfere with lymphocyte activation and adhesion in vitro as well as for its antipsoriatic efficacy in vivo using the psoriasis-severe combined immunodeficient (SCID) mouse model. RESULTS: The antibody demonstrated efficient inhibition of lymphocyte adhesion to ICAM-1 in vitro, with an IC(50) of approximately 0.4 microg mL(-1) (3 nmol L(-1)). In addition, MOR102 (#5) reduced lymphocyte proliferation in mixed lymphocyte cultures by approximately 50%. The in vivo efficacy of MOR102 (#5) was tested on grafts derived from lesional skin of patients with chronic plaque-stage psoriasis transplanted on to SCID mice. Intraperitoneal injection of 10 mg kg(-1) of MOR102 (#5) antibody every alternate day over a period of 4 weeks resulted in reconstitution of orthokeratotic differentiation and a significant (P < 0.05) reduction in epidermal thickness as well as marked reduction in the inflammatory infiltrate. Therapeutic activity may be related to the targeting of ICAM-1 on keratinocytes and thus preventing efficient activation of local T cells. CONCLUSIONS: Based on the efficacy of the fully human monoclonal antibody MOR102 (#5) shown in vitro as well as in vivo in the psoriasis-SCID mouse model, initiation of clinical studies is indicated.
Assuntos
Anticorpos Monoclonais/uso terapêutico , Molécula 1 de Adesão Intercelular/imunologia , Psoríase/terapia , Animais , Anticorpos Monoclonais/imunologia , Adesão Celular/imunologia , Proliferação de Células , Células Cultivadas , Epiderme/patologia , Humanos , Ativação Linfocitária/imunologia , Teste de Cultura Mista de Linfócitos , Camundongos , Camundongos SCID , Psoríase/imunologia , Psoríase/patologia , Transplante de PeleRESUMO
PURPOSE: This paper reports a prospective, randomised study comparing a problem-oriented practical (POP) course based on paper cases to a personal bedside teaching (PBT) practical course and a standard practical course. METHODS: During 2 consecutive terms, students were randomly allocated to either 2 POP groups/term (n = 10/group), 2 PBT groups/term (n = 10/group) or the standard practical course, which consisted of a rotating system of lectures and bedside teaching with randomly appointed tutors. Each course was evaluated with the same 12-item questionnaire and multiple-choice test administered at the beginning and end of the course. RESULTS: The numbers of students evaluated were 36 for the POP groups, 37 for the PBT groups, and 155 for the standard course. The PBT and POP courses were rated significantly better (P < 0.001) than the standard course for all items. Aggregate marks (mean +/- SD) were: 1.59 +/- 0.8 for the POP course; 1.69 +/- 0.68 for the PBT course, and 2.71 +/- 0.98 for the standard course. There were no significant differences between the POP and PBT courses. Significantly better learning rates as indicated by an increase in the number of correctly answered questions were observed in students attending the POP and PBT courses. CONCLUSION: This prospective study demonstrated that there was no difference in the rating of a POP course and a bedside teaching course by students randomly assigned to 1 of 3 different pedagogical approaches. Furthermore, both alternative options achieved better ratings than the standard course, which is current teaching practice in our medical school. The PBT and POP approaches provided superior learning success and POP helped solve the problems of standardisation and patient recruitment.
Assuntos
Dermatologia/educação , Educação de Graduação em Medicina/métodos , Currículo , Avaliação Educacional/normas , Alemanha , Humanos , Aprendizagem Baseada em Problemas/métodos , Estudos Prospectivos , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Neuroectodermal syndromes are complex because of their rarity and overlapping clinical manifestations making differential diagnosis problematic. CASE REPORT: A 2-year old girl presented with a phenotype characterized by bilateral pre-auricular tags, a fistula of the right cheek, hemifacial microsomia, and a limbus dermoid on the right eye. This constellation is characteristic for the Goldenhar syndrome. Following excision of the tags and fistula along with a keratoplasty, the child developed normally. CONCLUSION: The exact diagnosis of a neuroectodermal syndrome facilitates identification of associated symptoms. Early surgical therapy may prevent the development of functional deficits.
Assuntos
Otopatias/congênito , Orelha Externa , Dermatoses Faciais/congênito , Síndrome de Goldenhar/diagnóstico , Síndromes Neurocutâneas/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Otopatias/diagnóstico , Otopatias/cirurgia , Orelha Externa/cirurgia , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/cirurgia , Feminino , Síndrome de Goldenhar/cirurgia , Humanos , Síndromes Neurocutâneas/cirurgiaRESUMO
BACKGROUND: Topical photochemotherapy with bath psoralen plus ultraviolet (UV) A irradiation (PUVA) has been developed to reduce possible side-effects of oral PUVA therapy. Although the efficacy of bath PUVA therapy appears to be similar to oral PUVA therapy, provision of bathing facilities has obvious economic, logistic and sanitary implications. Cream PUVA therapy has recently been developed as a variation of topical PUVA. OBJECTIVES: To understand the photobiological effects and to increase the safety and effectiveness of this novel topical PUVA therapy, we assessed the kinetics and dose-response of phototoxicity of 8-methoxypsoralen (8-MOP) cream in order to develop a treatment schedule for this treatment option. METHODS: Ninety-eight patients (63 men and 35 women) undergoing cream PUVA therapy were studied. The phototoxic properties of topically applied 8-MOP in three different water-in-oil creams as vehicles were assessed. In a dose-response study, four concentrations of 8-MOP cream (0.0006-0.005%) were used for determination of the minimal phototoxic dose (MPD). The kinetics of photosensitization were tested by determination of MPDs after different application times of 8-MOP cream (10, 20, 30 and 60 min). The persistence of phototoxicity was assessed by UVA exposure at defined time intervals after application of 8-MOP cream (0, 30, 60 and 120 min). RESULTS: The concentration required to produce sufficient but not undue photosensitization of the skin was 0.001% 8-MOP. The duration of application leading to the lowest MPD was 30 min. Greatest photosensitization was achieved when UVA irradiation was performed between 0 and 30 min after 8-MOP removal. These findings showed no significant difference between the three vehicles used. CONCLUSIONS: Based on our data we recommend application of 0.001% 8-MOP in a water-in-oil cream for 30 min. Irradiation with UVA should be performed within 30 min after removal of 8-MOP cream, as there is a rapid decrease in photosensitivity thereafter.