Renata Ferreira Magalhães

Human leukocyte antigen (HLA) and single nucleotide polymorphisms (SNPs) tumor necrosis factor (TNF)‐alpha ‐238 and ‐308 as genetic markers of susceptibility to psoriasis and severity of the disease in a long‐term follow‐up Brazilian study

Background  The strongest genetic marker for psoriasis is Cw*06. Polymorphisms in the tumor necrosis factor (TNF)‐alpha promoter region, especially replacement of guanine with adenine in positions ‐238 and ‐308 are related to higher TNF‐alpha production and higher risk for psoriasis in Caucasoid populations, not found in Asians. We performed a case‐control study of 69 patients with psoriasis type I and 70 controls, characterized clinical progression along 10‐years of follow‐up in mild or severe disease and determined HLA class I, II, and TNF single nucleotide polymorphisms (SNPs) ‐238 and ‐308 polymorphisms to demonstrate whether these polymorphisms may be genetic risk for susceptibility to psoriasis or severity of the disease in Brazilians.

Bartonella henselae Infects Human Erythrocytes

Bartonella henselae, a facultative intracellular bacterium, has been known as the agent of cat scratch disease, bacillary angiomatosis, peliosis hepatis, endocarditis, and bacteremic syndrome in humans. Bartonella species can cause intraerythrocytic infections and have been isolated from the bloodstream of patients by several methods. It was demonstrated that B. bacilliformis and B. quintana infect human endothelial cells and human erythrocytes and B. henselae infects erythrocytes of cats. The aim of this study was to investigate through transmission electron microscopy whether B. henselae infects mature human erythrocytes. One red blood cell (RBC) unit received an experimentally standard strain of B. henselae. Blood aliquots were collected from the infected unit immediately after inoculation, at 30 min and 1, 5, 10, and 72 h for ultrastructural evaluation. B. henselae was seen adhering to human erythrocytes 10 h after inoculation and inside the erythrocyte after 72 h. This study demonstrates that B. henselae adheres to and invades mature human erythrocytes. The results favor the possibility that erythrocytes can serve as a primary target in Bartonella spp. infections. From this observation, further studies are warranted to prevent Bartonella spp. transfusional transmission.

Diagnosis and Follow-Up of Keratoacanthoma-Like Lesions: Clinical-Histologic Study of 43 Cases

Background: Keratoacanthoma (KA) is easily confused with squamous cell carcinoma (SCC) on a clinical or a histopathologic basis. However, KA undergoes spontaneous regression, whereas SCC does not. Objective: Our objective was to study the histopathologic features associated with clinical regression in KA-like lesions to support the therapeutic option. Methods: Forty-three biopsies of KA-like lesions were taken at patient admission. One month later, surgical excision was performed in 18 growing lesions. Regressing lesions were left untreated. Classic histopathologic features and diagnosis were blindly recorded in both biopsies and surgical specimens. Results: On a clinical and a histologic basis, 32 lesions were assessed as KA and 11 as SCC. Features that indicated malignancy were observed in both groups, but the probability of SCC was 31 times higher in tumors with five or more of such features. Several of the histologically atypical lesions were found to regress. Conclusion: SCCs and KAs have more pathologic similarities than differences, especially in the proliferative phase. The combination of the most useful features did not allow the nosologic diagnosis in difficult cases but helped. Differential diagnosis was easier to determine after the 1-month follow up. Complete surgical excision should be indicated in nonregressing and growing lesions.

Blood donor infected with Bartonella henselae

Dear Sir, Bartonella spp. are emerging infectious agents that have been isolated in various clinical settings, in both immunocompetent and immunodeficient patients. Besides angiomatous proliferation and granulomatous reactions, severe anaemia and cholestatic hepatitis are examples of the wide spectrum of clinical manifestations associated with Bartonella spp. infections (Velho et al., 2007; Magalhães et al., 2008). Human beings are reservoirs of Bartonella bacilliformis and Bartonella quintana and may also be asymptomatic carriers of Bartonella henselae (Greub & Raoult, 2002). Seroprevalence among humans can reach over 50% in certain groups (Pandak et al., 2009). But there are no studies about blood donor bacteraemia. As for cats, one-third of B. henselae seropositive animals have bacteraemia. It was demonstrated that B. henselae develop inside human erythrocytes and are able to survive the 35-day period of red blood cell (RBC) unit storage at 4 ◦C (Magalhães et al., 2008). We report the case of a 27-year-old white woman who was a first time blood donor. The donor selection and screening for infectious disease of this transfusion service comply with the guideline of the American Association of Blood Banks, 2006. She had a 3-year-old daughter who required frequent blood transfusions due to severe idiopathic anaemia from her first months of life. The hypothesis of a Bartonella spp. infection was suggested during one of her daughter’s medical regular appointments and the woman confirmed a daily contact with cats. This led her doctor to contact the Blood Bank, and her blood components were discarded for transfusion purposes. A sample of her RBC unit was sent for Bartonella spp. isolation that resulted negative. Her indirect immunofluorescence assay was also negative. However, transmission electron microscopy revealed structures that were suggestive of Bartonella spp. within erythrocytes (Fig. 1). In an attempt to confirm these microscopic findings, a double round amplification polymerase chain reaction

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

The connexins are a family of proteins whose major function is as part of the gap junctions of cell‐to‐cell channels. They are expressed in several tissues including brain, skin, and cochlea. Mutations in connexin genes play a major role in non‐syndromic sensorineural deafness, but have been also described in individuals with variable dermatological features. In recent years, many genes responsible for hereditary skin diseases have been discovered. These genes may encode different proteins that participate in the terminal differentiation of the epidermis. Therefore alteration or absence of these proteins causes a keratinization disorder. It has been demonstrated that distinct germline mutations within six connexin (Cx) genes GJB2 (Cx26), GJB6 (Cx30), GJB3 (Cx31), GJA1 (Cx43), GJB4 (Cx30.3), and GJB5 (Cx31.1), may cause sensorineural hearing loss and various skin disease phenotypes. The crucial functional importance of each of these connexins in the mentioned ectodermic tissues is reflected by the finding that genetic defects in their genes produce a wide spectrum of genetic disorders comprising sensorineural hearing loss, disorders of cornification of the skin, hair, and nails, and keratitis. Here, we report on different mutations in the connexin genes in individuals with or without hearing loss and different skin disorders illustrating the clinical and genetic heterogeneity of the condition.

Circulating levels of chemokines in psoriasis

Abstract Chemokines may contribute to local and systemic inflammation in patients with psoriasis. Previous studies have demonstrated the importance of chemokine ligands and receptors in the recruitment of T cells into psoriatic lesional skin and synovial fluid. The aim of this study was to evaluate the levels of Th1-related chemokines in psoriasis and to investigate any association with disease severity. We quantified serum levels of CXCL9, CXCL10 and CXCL16 and the frequencies of CD4+CXCR3+ T lymphocytes through ELISA and flow cytometry, respectively. A total of 38 patients with psoriasis and 33 controls were included. There were no significant differences in chemokine levels between psoriasis and control groups. Patients with psoriatic arthritis had lower median level of CXCL10 when compared with controls (p = 0.03). There were no significant correlations between serum chemokines analyzed and disease severity. Frequencies of CD4+CXCR3+ T cells were lower in patients with psoriasis than in controls (p < 0.01). A sensitivity analysis excluding patients on systemic therapy yielded similar results. Serum concentrations of CXCL9, CXCL10 and CXCL16 were not increased in the psoriasis group or correlated with disease severity. Systemic levels of chemokine ligands do not seem to be sensitive biomarkers of disease activity or accurate parameters to predict response to therapy. Frequencies of CD4+CXCR3+ T cells were decreased in the peripheral blood of psoriasis patients, possibly due to recruitment to inflammatory lesions.

Bartonellosis as Cause of Death After Red Blood Cell Unit Transfusion

The authors present the case of a young man with aplastic anemia who went into shock and died after several red blood cell unit transfusions. Immunohematological studies did not show any abnormality and blood cultures from patients and blood bags were negative. The ultrastructural findings, allied with current scientific knowledge, permitted the diagnosis of Bartonella sp. infection. In face of this diagnosis, two possibilities should be considered: the first one is that the patient was already infected by the bacteria before the last RBC unit transfusion. The pathogen could be involved in aplastic anemia etiology and in the failure to recover hemoglobin levels, in spite of the transfusions. The second possibility is that the RBC unit was contaminated with a Bartonella sp., which would have led to a state of shock, causing the death of the patient.

Implantation of autologous fat globules in localized scleroderma and idiopathic lipoatrophy - report of five patients

A large number of diseases may cause Atrophic skin disorders are caused by a large number of diseases, some of them idiopathic and others inflammatory, in which there is loss of volume of body segments. Localized scleroderma is a rare inflammatory dermatosis, manifested by atrophic skin and subcutaneous tissue alterations. Lipoatrophy may be genetically inherited or acquired as a result of panniculitis, HIV infections or aging. Many treatments have been proposed. Results vary in the acute inflammatory phase and are scarce when sclerosis and atrophy have already been established. This article describes four cases of localized facial scleroderma and one of facial idiopathic lipoatrophy treated with implantation of autologous fat globules extracted from the infragluteal groove, without utilization of cannula aspiration, with lasting results.

Sorologia para sífilis: os médicos estão capacitados a interpretá-la?

Resumo: O ensino da dermatologia e pouco valorizado no curriculo medico, e as doencas sexualmente transmissiveis, em geral, sao apresentadas de forma nao sistematizada. Em estudo sobre o ensino da dermatologia, de 83 medicos que participaram do projeto apenas 10 acertaram uma questao sobre sorologia de lues. Mais pesquisas sobre o ensino das doencas sexualmente transmissiveis sao necessarias no Brasil, e os dermatologistas devem aproveitar a oportunidade, trazida pelas reformas curriculares, para reassumir a responsabilidade do ensino dessas doencas. Palavras-chave: Dermatologia; Doencas sexualmente transmissiveis; Ensino; Eritema multiforme; Sifilis

Blood Cell Findings Resembling Bartonella spp.

Some Bartonella species are able to invade red blood cells (RBC) and may cause persistent infection in the susceptible host. Use of transmission electron microscopy (TEM) demonstrates, inside erythrocytes, the typical triple-walled agents. However, when examining ultrathin sections of blood cells, the authors have, on several occasions, detected intraerythrocytic abnormalities that mimic but are not typical of Bartonella spp. Small endovesicles, pseudoinclusions, cavities, and irregular hemoglobin granules distribution, resulting in regions of increased or decreased electron density, may be observed in the erythrocytes and platelets, which may be confused with bartonellas. So far, detailed ultrastructural findings of Bartonella spp. in blood cells have not yet been described. Aiming to improve TEM interpretation of blood cells changes, in routine examination of blood sections of patients with suspected bartonellosis, the authors studied the morphological findings they have observed, and present their putative nature, according to information in the literature.