BACKGROUND Leprosy, caused by Mycobacterium leprae, is a public health problem in Brazil that affects peripheral nerves, resulting in physical disabilities. During host-pathogen interactions, the immune response determines leprosy outcomes from a localised (paucibacillary) form to a disseminated (multibacillary) form. The recognition of M. leprae involves the DC-SIGN receptor, which is present on the dendritic cells (DCs) and participates in immune activation. OBJECTIVES To evaluate the association of polymorphisms in the promoter region of the gene encoding DC-SIGN (CD209) and the clinical form of leprosy, and to investigate its functional effects. METHODS The study population included 406 leprosy patients from an endemic area in Brazil [310 multibacillary (MB); 96 paucibacillary (PB)]. A functional evaluation based on the effects of the single nucleotide variant (SNV) associated with PB leprosy on the specific immune response was also performed. RESULTS The GA genotype and the presence of the A allele of rs735240 (-939G>A) were associated with PB leprosy [OR: 2.09 (1.18-3.69) and 1.84 (1.07-3.14), respectively]. Carriers of the A allele showed reduced expression of CD209 and TGF-β1 in leprosy lesions in comparison with individuals with GG genotype, in addition to a higher response to the Mitsuda test. CONCLUSION These data suggest that rs735240 influences the immune response against M. leprae and clinical presentation of leprosy.

Abstract: We report a case of granulomatous slack skin, a rare and indolent subtype of mycosis fungoides. It affects mainly men between the third and fourth decades. It is characterized by hardened and erithematous plaques that mainly affect flexural areas and become pedunculated after some years. Histological examination shows a dense infiltrate of small atypical lymphocytes involving the dermis (and sometimes the subcutaneous tissue) associated with histiocytic and multinucleated giant cells containing lymphocytes and elastic fibers (lymphophagocytosis and elastophagocytosis, respectively). Patients affected by this entity can develop secondary lymphomas. There are several but little effective therapeutic modalities described. Despite the indolent behavior of granulomatous slack skin, its early recognition and continuous monitoring by a dermatologist becomes essential for its management and prevention of an unfavorable outcome.

Abstract Brazil has the second largest number of leprosy cases in the world; nevertheless, late diagnosis is common. We report the case of a male patient with pain and numbness in both hands and feet for six years with positive rheumatoid factor and anticardiolipin under rheumatoid arthritis treatment for five years. Examination revealed diffuse cutaneous infiltration and leonine facies, characteristic features of lepromatous leprosy. Autoantibodies such as rheumatoid factor and anticardiolipin are markers of rheumatic autoimmune diseases, but their presence is also described in leprosy. We report the present case in order to alert health professionals to remember leprosy, even in areas where the disease is considered eliminated as a public health problem, avoiding misinterpretations of serologic findings and misdiagnosis.

Abstract Leprosy, whose etiological agent is Mycobacterium leprae, is a chronic infectious disease that mainly affects the skin and peripheral nervous system. The diagnosis of leprosy is based on clinical evaluation, whereas histopathological analysis and bacilloscopy are complementary diagnostic tools. Quantitative PCR (qPCR), a current useful tool for diagnosis of infectious diseases, has been used to detect several pathogens including Mycobacterium leprae. The validation of this technique in a robust set of samples comprising the different clinical forms of leprosy is still necessary. Thus, in this study samples from 126 skin biopsies (collected from patients on all clinical forms and reactional states of leprosy) and 25 slit skin smear of leprosy patients were comparatively analyzed by qPCR (performed with primers for the RLEP region of M. leprae DNA) and routine bacilloscopy performed in histological sections or in slit skin smear. Considering clinical diagnostic as the gold standard, 84.9% of the leprosy patients were qPCR positive in skin biopsies, resulting in 84.92% sensitivity, with 84.92 and 61.22% positive (PPV) and negative (NPV) predictive values, respectively. Concerning bacilloscopy of histological sections (BI/H), the sensitivity was 80.15% and the PPV and NPV were 80.15 and 44.44%, respectively. The concordance between qPCR and BI/H was 87.30%. Regarding the slit skin smear, 84% of the samples tested positive in the qPCR. Additionally, qPCR showed 100% specificity, since all samples from different mycobacteria, from healthy individuals, and from other granulomatous diseases presented negative results. In conclusion, the qPCR technique for detection of M. leprae using RLEP primers proved to be specific and sensitive, and qPCR can be used as a complementary test to diagnose leprosy irrespective of the clinical form of disease.

Abstract: Eosinophilic pustular folliculitis (EPF) or Ofuji disease is a rare dermatosis, prone to recurrence and chronicity. The peak incidence occurs in the third decade of life and its exact etiology remains unknown. Evidence suggests that the expression of adhesion molecules and the production of cytokines activate the follicular unit, but the stimulus that triggers these changes remains unclear. The three clinical variants reported in the literature include classic EPF, immunosuppression-associated EPF, and infancy-associated EPF. We report a case of eosinophilic pustular folliculitis with peculiar epidemiological characteristics, which represents a challenging therapeutic scenario.

Abstract Anti-TNF agents are effective in the treatment of psoriasis. However, they render individuals more susceptible to infections. We report an atypical case of histoplasmosis in an immunosuppressed patient due to anti- TNF therapy. A patient who used anti-TNF for the treatment of psoriasis had had a lesion on the right eyebrow since discontinuation of the medication. The diagnostic hypothesis was basal cell carcinoma, but the histopathological examination was compatible with histoplasmosis.

Abstract The actinic comedonal plaque is characterized by papules, cysts and comedones forming a yellowish plaque in areas of chronic sun exposure skin. There are few reports in literature about this entity, considered a rare and ectopic form of Favré-Racouchot Syndrome. We report two cases of lesions located on forearms and thorax. Favré-Racouchot Syndrome is a condition usually restricted to the periorbital area; however, there are reports of similar findings in atypical locations, such as forearms and chest, which are known as actinic comedonal plaque. Ultraviolet radiation exposure is the main factor involved in its pathogenesis. The objective of this study was to provide accurate knowledge of this dermatosis and stimulate dermatologists to provide a correct diagnosis of the condition.

Exacerbation of the immune response against Mycobacterium leprae can lead to neuritis, which is commonly treated via immunosuppression with corticosteroids. Early neurolysis may be performed concurrently, especially in young patients with a risk of functional sequelae. We report the case of a young patient experienced intense pain in the left elbow one year after the treatment of tuberculoid-tuberculoid leprosy. The pain was associated with paresthesias in the ulnar edge and left ulnar claw. After evaluation, the diagnosis was changed to borderline tuberculoid leprosy accompanied with neuritis of the left ulnar nerve. Early neurolysis resulted in rapid reduction of the pain and recovery of motor function.

Os autores propuseram-se a realizar uma revisão sistemática em conceitos atuais sobre a hanseníase neural primária, consultando as seguintes bases bibliográficas on-line: MEDLINE, Lilacs/SciELO e Embase. Os estudos selecionados foram classificados conforme o grau de recomendação e o nível de evidência científica de acordo com o “Oxford Centre for Evidence-based Medicine”. Os seguintes temas foram revisados: investigações clínica e laboratorial cutâneas, ou seja, exame, esfregaço e biópsia de pele e reação de Mitsuda; investigação neurológica (anamnese, eletroneuromiografia e biópsia de nervo); investigação sorológica e testes moleculares, ou seja, testes sorológicos para detecção de um glicolipídio fenólico e reação de cadeia de polimerase (PCR) e tratamento (critérios de classificação para definição de tratamento específico, tratamento com esteroides e critérios de cura).

The authors proposed a systematic review on the current concepts of primary neural leprosy by consulting the following online databases: MEDLINE, Lilacs/SciELO, and Embase. Selected studies were classified based on the degree of recommendation and levels of scientific evidence according to the “Oxford Centre for Evidence-based Medicine”. The following aspects were reviewed: cutaneous clinical and laboratorial investigations, i.e. skin clinical exam, smears, and biopsy, and Mitsuda's reaction; neurological investigation (anamnesis, electromyography and nerve biopsy); serological investigation and molecular testing, i.e. serological testing for the detection of the phenolic glycolipid 1 (PGL-I) and the polymerase chain reaction (PCR); and treatment (classification criteria for the definition of specific treatment, steroid treatment, and cure criteria).

Linfedema crônico se manifesta pelo acúmulo de líquido intersticial por falha da drenagem linfática. A região afetada torna-se imunologicamente vulnerável e predisposta ao desenvolvimento de neoplasias. Carcinoma basocelular é a neoplasia maligna mais comum, entretanto raramente metastatiza. Sarcomas são neoplasias mesenquimais malignas, localmente agressivas e capazes de metastatizar. Apresentamos um caso raro de múltiplos carcinomas basocelulares concomitantes a sarcoma pleomórfico pouco diferenciado, metastáticos para linfonodos, originando-se em área de linfedema crônico.

Chronic lymphedema presents as interstitial fluid retention due to a failure in the lymphatic system drainage. The affected region becomes more vulnerable immunologically and predisposed to the onset of neoplasms. Basal Cell Carcinoma is the most common sort of neoplasm, nevertheless it rarely metastisizes. Sarcomas are malignant mesenchymal neoplasms, locally aggressive, which can spread. Here is reported an infrequent case of multiple basal cell carcinoma, synchronous to a poorly differentiated pleomorphic sarcoma, both spreading to lymph nodes and arising from tissue compromised by chronic lymphedema.

Paracoccidioidomicose é uma micose crônica, subaguda ou raramente aguda, com comprometimento visceral e tegumentar, sendo potencialmente fatal. As crianças representam cerca de 5 a 10% dos casos. A seguir, descreve-se a necessidade da discussão dos diagnósticos diferenciais cabíveis bem como a importância do início precoce do tratamento.

Paracoccidioidomycosis is a chronic, subacute or rarely acute mycosis, with visceral and cutaneous involvement. It is potentially fatal. Children account for about 5-10% of cases. In this study, we describe the relevance of discussing possible differential diagnoses as well as the importance of early treatment.

O presente artigo relata um caso de recidiva, com manifestação neural isolada, em paciente multibacilar previamente tratado com poliquimioterapia para multibacilar 24 doses. O paciente retorna ao serviço, seis anos depois do fim do tratamento, com dores em mãos e pernas. Na investigação, o acompanhamento da sorologia anti-glicolipídeo fenólico 1 demonstrou aumento importante dos níveis séricos, e foi aventada a hipótese de recidiva neural, já que o paciente não apresentava lesões cutâneas novas. Uma nova biópsia, em nervo ulnar direito, demonstrou baciloscopia de 2+, compatível com recidiva. Faz-se revisão da literatura sobre aspectos etiológicos, clínicos, propedêuticos e diagnósticos dessa situação tão pouco compreendida.

This article presents a case of relapse, with isolated neural manifestation, in a multibacillary patient previously treated with multidrug therapy for multibacillary leprosy (24 doses). The patient returned to the service six years after the end of treatment, with pain in hands and legs. He was investigated, and the serological monitoring showed an important increase in anti-phenolic glycolipid serum levels. A neural recurrence was suspected, since the patient had no new skin lesions. A new biopsy in the right ulnar nerve showed a bacilloscopy of 2 +, compatible with relapse. This is a literature review of the etiological, clinical, propedeutical and diagnostic aspects of this situation so poorly understood.

Pleomorphic adenoma (PA), the most common salivary gland tumor, accounts for 54 to 65% of all salivary gland neoplasias and 80% of the benign salivary gland tumors. It most frequently affects the parotid gland, followed by the submandibular and the minor salivary glands. Microscopically, mucous, sebaceous, oncocytic and squamous metaplasia, sometimes with the formation of keratin pearls, may be present, but the latter rarely results in the formation of extensive keratin-flled cysts lined by squamous epithelium. Extensive squamous metaplasia can be mistaken for malignancy, including mucoepidermoid carcinoma and squamous cell carcinoma. Here, we present an unusual case of PA with extensive squamous metaplasia and keratin cyst formations in a minor salivary gland, and discuss its microscopic features, including the immunohistochemical characteristics, and differential diagnosis of this uncommon presentation.

INTRODUÇÃO: Expressiva porcentagem de pacientes com carcinomas de boca e faringe apresentam superexpressão da proteína p53 induzida por tabaco, álcool e radioterapia. OBJETIVO: Descrever a expressão da p53 em áreas de mucosa normal adjacente ao tumor e em carcinomas da boca e faringe. MÉTODO: Estudo prospectivo, com seguimento clínico por um ano, de 24 pacientes com câncer espinocelular de boca e faringe. Foram feitas biópsias na neoplasia e em áreas de mucosa normal adjacente ao tumor, antes e 9 meses após a radioterapia, e realizado estudo imunohistoquímico da expressão da p53. RESULTADOS: Antes da radioterapia, houve alteração da expressão da p53 em 20 das 24 biópsias feitas na neoplasia e em 14 nas de mucosa normal adjacente ao tumor. Onze paciente morreram antes de 1 ano de seguimento clínico. Dos 2 pacientes iniciais com aumento da p53 após a radioterapia continuava aumentada em 7 na área da neoplasia e em 6 nas áreas de mucosa normal. Observou-se associação da p53 com o tabagismo e estádio do tumor (p < 5%) mas não com o grau de diferenciação celular e alcoolismo. CONCLUSÃO: O aumento da expressão da p53 foi observado tanto na área da neoplasia como em mucosa normal na maioria dos pacientes com carcinoma de boca e faringe antes e após a radioterapia. Houve correlação estatisticamente significante da expressão da p53 com o tabagismo e estádio da neoplasia.

INTRODUCTION: Expressive percent of patients with oral and oral pharynx carcinomas presents with overexpression of protein p53 induced by tobacco, alcohol and radiotherapy. OBJECTIVE: To describe the p53 expression in areas of the normal mucosa adjacent to the tumor and in mouth and pharynx carcinomas. METHOD: Prospective study with clinical follow-up of one year of 24 patients with oral and oral pharynx spinocellular carcinoma. We performed biopsies in the neoplasm and areas of the normal mucosa adjacent to the tumor, before and 9 months following radiotherapy and an immunohistochemical study of p53 expression. RESULTS: Before radiotherapy, there was a change to the p53 expression in 20 out of the 24 biopsies made in the neoplasm and in 14 in those of normal mucosa adjacent to the tumor. Eleven patients died 1 year before clinical follow-up. From the 2 initial patients with increase of p53 after radiotherapy it remained increased in 7 in the neoplasm region and in 6 in the normal mucosa regions. We noticed association of p53 with smoking and tumor stage (p < 5%), but not with the degree of cellular differentiation and alcoholism. CONCLUSION: The increase to the p53 expression was viewed both in the neoplasm region and in the normal mucosa in most patients with oral and oral pharynx carcinoma before and after radiotherapy. There was a statistically significant correlation of the p53 expression with smoking and neoplasm stage.