Pediatric lupus nephritis / Nefrite lúpica em pediatria

Abstract Involvement of the kidneys by lupus nephritis (LN) is one of the most severe clinical manifestations seen in individuals with systemic lupus erythematosus (SLE). LN is more frequent and severe in pediatric patients and has been associated with higher morbidity and mortality rates. This narrative review aimed to describe the general aspects of LN and its particularities when affecting children and adolescents, while focusing on the disease's etiopathogenesis, clinical manifestations, renal tissue alterations, and treatment options.

Resumo A nefrite lúpica (NL) é caracterizada pelo acometimento dos rins no contexto das diversas manifestações clínicas do Lupus Eritematoso Sistêmico (LES), e representa uma das manifestações clínicas mais graves da doença. A NL é mais frequente e mais grave nos pacientes pediátricos, em comparação com os adultos, e causa maiores taxas de morbidade e mortalidade. O objetivo desta revisão narrativa foi descrever os aspectos gerais da NL e suas particularidades em crianças e adolescentes, com foco em sua etiopatogênese, nas manifestações clínicas, nas alterações histopatológicas renais e na abordagem terapêutica.

Cryptococcoma mimicking a brain tumor in an immunocompetent patient: case report of an extremely rare presentation

ABSTRACT CONTEXT: Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. Case Report: A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. CONCLUSIONS: Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.

Mammary hibernoma: A case report of a rare disease / Hibernomamamário: relato de caso de uma doença rara

Abstract Mammary hibernomas are extremely rare benign tumors composed of brown fat cells, with only five cases previously reported in the literature. We report the case of a 42- year-old female patient with a painless growing mass in her right breast. A partial mastectomy was performed, and the diagnosis of hibernoma was confirmed by the histological features and the immunohistochemical profile. Although hibernoma is a benign tumor, its main differential diagnoses include aggressive lesions, making the accurate diagnosis essential to provide adequate care to the patient.

Resumo Hibernomas mamários são tumores benignos extremamente raros compostos por gordura marrom, com apenas cinco casos previamente relatados na literatura. Relatamos o caso de uma paciente do sexo feminino, de 42 anos de idade, apresentando- se com uma massa indolor em sua mama direita. Realizou-se uma mastectomia parcial e o diagnóstico de hibernomamamário foi confirmado pelo padrãomorfológico e pelo perfil imuno-histoquímico. Embora hibernomas constituamneoplasias benignas, seus principais diagnósticos diferenciais incluem lesões agressivas, sendo o diagnóstico acurado extremamente importante para o correto manejo clínico do paciente.

Cutaneous leiomyosarcoma on the face

Abstract: Leiomyosarcoma is a rare skin tumor, most common in white men in the fifth to eighth decades of life. Primary tumors are classified in dermal or subcutaneous, that differ by clinical and prognostic features. They may appear on any site of the body, but are rare on the face. A 54-year-old female was admitted with a 5cm exophytic nodular lesion of 8 months duration on the right cheek, site of previous chronic radiodermatitis. Histopathology revealed spindle-shaped cell neoplasia, positive for smooth muscle actin on immunohistochemistry. Cutaneous leiomyosarcomas on the face are rare and may occur in previously irradiated areas. Immunohistochemistry is mandatory for an accurate diagnosis. Its similarity with other tumors may complicate the diagnosis, with delay expansion of the tumor.

Pulmonary placental transmogrification associated with adenocarcinoma of the lung: a case report with a comprehensive review of the literature

Pulmonary placental transmogrification (PT) is a rare entity with less than 40 cases reported in the literature. Most reported cases are associated with either bullous emphysema or with pulmonary fibrochondromatous hamartomas. We present only the second case of PT associated with adenocarcinoma of the lung. A 67-year-old female with multiple chronic medical ailments presented with shortness of breath and was found to have a 6-cm mass in the upper lobe of her right lung. A computed tomography (CT) guided core biopsy was performed that showed a well-differentiated adenocarcinoma. Interestingly the normal lung tissue showed placental villous architecture. A unique feature of our case is that the diagnosis was made on a needle core biopsy, unlike all the other cases in the literature. We also provide a comprehensive review of this rare entity.

Endometriose umbilical primária: excisão e neo-onfaloplastia / Primary umbilical endometriosis: excision and neo-omphaloplasty

Introdução: Endometriose primária de umbigo é uma afecção rara que acomete mulheres em idade fértil. A endometriose umbilical espontânea apresenta-se com nódulo em umbigo, dor cíclica, sangramento local discreto durante o período menstrual, sem história de cirurgia prévia. O tratamento consiste na excisão em bloco da lesão e cordão umbilical, com margens para evitar recorrência e a reconstrução umbilical imediata. Métodos: Apresentamos a técnica cirúrgica para excisão circular do endometrioma umbilical e a neo-onfaloplastia em um só estágio. Conclusão: A possibilidade de endometriose umbilical deve ser considerada quando da presença de nodulações e hemorragias umbilicais, mesmo sem cirurgia prévia. A técnica cirúrgica proporciona remissão total da lesão e uma cicatriz umbilical de aspecto natural.

Introduction: Umbilical primary endometriosis is a rare condition that affects women of childbearing age. Spontaneous umbilical endometriosis presents lump in the navel, cyclic pain, discreet local bleeding during menstruation, with no history of previous surgery. The treatment is block excision of the lesion and umbilical cord with edges margin to avoid recurrence and immediate umbilical reconstruction. Methods: We describe the surgical technique for circle excision of the umbilical endometrioma and neo-omphaloplasty in one stage. Conclusion: The possibility of umbilical endometriosis should be considered when the presence of nodules and umbilical bleeding, even without previous surgery. The surgical technique provides total remission of the lesion and an umbilical natural scar.

Bullous systemic lupus erythematosus in a 10-year-old child

Abstract: Bullous systemic lupus erythematosus (BSLE) is a rare autoimmune subepidermal blistering disease, with few cases described in childhood. It has different clinical-pathological features. We report a case of BSLE in a 10-year-old child with systemic lupus erythematosus, treated with prednisone and hydroxychloroquine. There was complete remission with dapsone, with no recurrence of skin lesions throughout one year of follow-up. We highlight the rarity and early age of occurrence.

Cutaneous myeloid sarcoma associated with chronic myeloid leukemia

Abstract: Myeloid sarcoma is an extramedullary tumor of malignant myeloid cells often associated with acute myeloid leukemia, chronic myeloproliferative disorders and myelodysplastic syndromes. The skin is one of the most commonly affected sites. We report a rare case of cutaneous myeloid sarcoma associated with chronic myeloid leukemia.

Ashy dermatosis with involvement of mucous membranes

Abstract: Ashy dermatosis is a rare condition, of unknown aetiology, in which mucous membranes are typically spared. The authors report the case of a 57-year-old female with a history of asymptomatic gray-bluish macules located on the trunk and oral mucosa. There were no relief changes on examination. Skin biopsies from the oral mucosa and trunk were performed and both were compatible with ashy dermatosis. The patient started treatment with oral clofazimine but due to the absence of clinical improvement the drug was discontinued three months later. This case report illustrates an atypical case of ashy dermatosis owing to the involvement of mucous membranes, which is rarely described in the literature.

Congenital plaque-like glomangioma: report of two cases

Abstract: Glomus tumors are rare hamartomas that originate from the glomus body. These tumors can be divided into solitary and multiple, the latter also known as glomangioma. We report the case of two patients with a rare variety of glomangioma called congenital plaque-like glomangioma. It presents as numerous red to bluish compressible papules, that increase in size in proportion with the weight and height growth of the child. Diagnostic confirmation is with histopathology and the treatment is surgical.

Phacomatosis pigmentovascularis of cesioflammea type

Abstract Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of phakomatosis pigmetovascularis of cesioflammea type, according to Happle's classification. The rare occurrence of this genodermatosis and the clinical exuberance of the skin lesions motivated this case report.

Elastoma: clinical and histopathological aspects of a rare disease

Abstract Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.

Steatocystoma multiplex suppurativa: case report of a rare condition

Abstract Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. This is the first case of steatocystoma multiplex suppurativa reported in the Brazilian literature. Female patient, 23 years old, with papular and nodular cystic lesions that started in the armpits and groin, later spreading to the trunk, lower limbs, anticubital fossa, face and scalp. The presence of papular-nodular lesions associated with disseminated hidradenitis-like lesions in flexural areas and the histopathological diagnosis of steatocystoma defined the diagnosis of steatocystoma multiplex suppurativa.

Carcinoma triquilemal, um tumor incomum: atualização sobre manejo e prognóstico / Trichilemmal carcinoma, an uncommon tumor: update on its management and prognosis

INTRODUÇÃO: O carcinoma triquilemal (CT) é uma neoplasia rara dos anexos cutâneos. Foi descrito pela primeira vez em 1968, como tricoleptocarcinoma, e tem incidência de 0,05% em pacientes submetidos a exame histopatológico após excisão de lesões cutâneas. Parece ser um tumor de baixa agressividade, porém, relatos na literatura colocam em dúvida tal comportamento indolente. OBJETIVOS: Oferecer uma atualização sobre manejo e prognóstico do CT. MÉTODOS: Pesquisa no PubMed e SciELO com os termos MeSH "trichilemmal carcinoma", "tricholemmal carcinoma", "adnexal skin tumor", "carcinoma triquilemal". RESULTADOS: Devido a sua raridade, a maior parte da literatura se baseia em relatos de caso, os quais na sua maioria corroboram a natureza indolente da doença. Excisão cirúrgica é o tratamento preconizado, com baixo risco de recidiva e baixa morbimortalidade. CONCLUSÃO: O comportamento da lesão e as condutas no tratamento do CT baseiam-se em casos isolados ou de pequenas séries de casos. Devido a sua baixa prevalência, uma colaboração multicêntrica agrupando um maior número de casos pode ajudar a definir melhor recomendações de tratamento, fisiopatologia e prognóstico. Excisão cirúrgica continua a ser o padrão-ouro de tratamento, com baixo risco de recidiva.

INTRODUCTION: Trichilemmal carcinoma (TC) is a rare neoplasm of skin appendages. It was first described in 1968 as tricoleptocarcinoma, and has an incidence of 0.05% in patients subjected to histopathological examination after excision of cutaneous lesions. TC has an indolent clinical course ; however, reports in the literature put in doubt this indolent behavior. OBJECTIVES: To provide an update on the management and prognosis of TC. METHODS:A search of the PubMed and SciELO databases by using with the MeSH terms "trichilemmal carcinoma", "tricholemmal carcinoma", "adnexal skin tumor", and "carcinoma triquilemal" was performed. RESULTS: Owing to the rarity of TC, most studies were case reports, which essentially corroborate the indolent nature of the disease. Surgical excision is the recommended treatment, and is associated with a low risk of recurrence and low morbidity and mortality. CONCLUSION: The behavior of the lesion and the procedure of treatment of TC are based on isolated cases or in a small series of cases. Because of its low prevalence, a multicenter collaboration of a greater number of cases can help define the best treatment recommendations, pathophysiology, and prognosis. Surgical excision remains the gold standard of treatment, and is associated with a low risk of recurrence.

Male urethral sarcoma: a case report and literature review / Sarcoma de uretra masculina: relato de caso e revisão de literatura

Urethral tumors are rare and aggressive. They usually affect men (2:1) and occur more commonly in white (85% of cases). Soft tissue sarcomas are a heterogeneous group of tumors that arise from embryonic mesoderm. It represents 1% of all cases of urinary tract malignancies and rarely primary affect the ureter. We report a case of male urethral sarcoma. To date, only two similar cases have been published in literature.

Os tumores de uretra são muito raros e bastante agressivos. Acometem mais frequentemente homens (2:1) e são mais comuns na raça branca (85% dos casos). Os sarcomas de tecidos moles são um grupo heterogêneo de tumores que surgem a partir da mesoderme embrionária e representam 1% de todos os casos de doença maligna urinária, raramente acometendo a uretra primariamente. Relamos aqui um caso extremamente raro de sarcoma uretral masculino com somente dois semelhantes publicados na literatura.

Síndrome de Barraquer-Simons: revisão da literatura e relato de caso / Barraquer-Simons syndrome: literature review and case report

A síndrome de Barraquer-Simons é uma lipodistrofia caracterizada por progressiva atrofia do tecido celular subcutâneo limitada à parte superior do corpo. Seu acometimento costuma ser simétrico e com evolução craniocaudal, podendo atingir até as coxas. Também é conhecida como lipodistrofia céfalo-torácica ou lipodistrofia parcial progressiva. É uma doença rara, de origem obscura, que geralmente se manifesta no começo da segunda década de vida e tem predominância no sexo feminino. O presente trabalho objetiva trazer uma revisão da literatura e relatar um caso desta rara patologia e sua condução terapêutica, comparando-a a outras modalidades de tratamento disponíveis atualmente. Durante o período de um ano e três meses de seguimento, foram realizadas quatro sessões de enxertia de gordura seguindo os princípios da lipoenxertia estruturada. Por meio desta modalidade terapêutica, foi possível obter uma melhora importante do contorno facial com desaparecimento quase completo das depressões e irregularidades características da doença e preservação do resultado durante o tempo de acompanhamento. Diversos tipos de tratamentos foram descritos como efetivos para as lipodistrofias: uso de materiais aloplásticos, enxertos autólogos, retalhos locais e microcirúrgicos. Cada um deles possui suas vantagem e desvantagens e a escolha dependerá da experiência do cirurgião e da disponibilidade de recursos e materiais específicos em cada centro. A lipoenxertia se mostrou uma forma de tratamento eficaz, simples, segura e de baixo custo para tratamento da síndrome de Barraquer-Simons.

Barraquer-Simons syndrome is a type of lipodystrophy characterized by progressive atrophy of the subcutaneous tissue limited to the upper body. Its involvement is usually symmetrical with craniocaudal evolution, reaching down to the thighs. This syndrome is also known as cephalo-thoracic lipodystrophy or progressive partial lipodystrophy. It is a rare disease of unknown origin that usually manifests at the beginning of the second decade of life and has predominance among women. We report a case and literature review of this rare disease, its therapeutic management, and a comparison with other treatment modalities currently available. During one year and three months follow-up, four sessions of facial fat grafting were performed following the principles of structural fat grafting. The use of this therapeutic modality, improved significantly facial contour, and almost complete disappearance of depressions and irregularities, and preservation were achieved during follow-up time. A number of treatments have been described as effective for lipodystrophy, such as: use of alloplastic materials, autologous grafts, local and microsurgical flaps. Each treatment has advantages and disadvantages. Decision depends on the surgeon's experience, availability of resources, specific materials in each center.

Macrodactilia: estudo retrospectivo de quatro casos / Macrodactyly: a retrospective study of four cases

INTRODUÇÃO: A macrodactilia é uma anomalia rara e de etiologia desconhecida. Os primeiros casos foram descritos, em 1821, por Klein. Representa aproximadamente 1% de todas as anomalias congênitas. Surge no nascimento e caracteriza-se pelo crescimento dos dedos das mãos, dos pés ou de todo o membro; entretanto, pode se apresentar mais tardiamente, com os sintomas de compressão de nervo, podendo associar-se à síndrome do túnel do carpo. MÉTODOS: Estudo retrospectivo de quatro casos de macrodactilia atendidos no Hospital da Santa Casa Misericórdia de Campo Grande, MS, nos últimos 10 anos. RESULTADOS: Descrevemos quatro casos de macrodactilia, sendo três em quirodáctilos e um acometendo primeiro pododáctilo. Todos os pacientes tratados com procedimentos cirúrgicos, um dos casos com amputação de falanges e metacarpo. CONCLUSÕES: É recomendada a amputação como opção cirúrgica em alguns casos e o tratamento precoce da síndrome do túnel do carpo quando presente.

INTRODUCTION: Macrodactyly is a rare anomaly of unknown etiology. The first cases were described in 1821 by Klein. It represents approximately 1% of all congenital anomalies. It appears at birth and is characterized by excessive growth of the fingers, toes, or of the entire limb; however, its appearance may be delayed, with symptoms of nerve compression, and may present with carpal tunnel syndrome. METHODS: Retrospective study of four cases of macrodactyly treated at the Hospital da Santa Casa Misericórdia in Campo Grande, MS, in the last 10 years RESULTS: We describe four cases of macrodactyly: three in the fingers and one affecting the first toe. All patients were treated with surgical procedures, one with amputation of phalanges and metacarpals. CONCLUSIONS: Amputation is a surgical option recommended in some cases, as is the early treatment of carpal tunnel syndrome.

Osteosarcoma parostal de bajo grado: Evolución oncológica y clínica / Low grade parosteal osteosaroma. Clinical and oncological outcomes]

El objetivo de este estudio fue analizar una serie de pacientes con osteosarcoma parostal de bajo grado y los resultados de su tratamiento quirúrgico y reconstrucción con un trasplante óseo. Se realizó una búsqueda retrospectiva en nuestra base de datos oncológica entre 1980 y 2010 de todos los pacientes con diagnóstico de osteosarcoma parostal. Se incluyeron para el análisis únicamente los osteosarcomas parostales de bajo grado, tratados quirúrgicamente con cirugía de conservación de miembro y reconstruidos con trasplante óseo cadavérico fresco congelado. Se incluyeron 22 pacientes en el estudio. La edad media de la serie fue de 32 ± 11 años (10-59) y el seguimiento medio de 93 ± 69 meses (8-237). La supervivencia global de los pacientes analizados fue de 91% (IC95%: 79-100) a 10 años. Cuatro pacientes (18%) presentaron una recidiva local de la enfermedad, dos de éstas fueron clasificadas histológicamente como osteosarcoma parostal desdiferenciado. Dos pacientes desarrollaron enfermedad a distancia, siendo el pulmón el único sitio de localización. La tasa de supervivencia de las reconstrucciones de la cirugía de conservación de miembro a 10 años fue de 65% (IC95%: 44-86). La supervivencia a largo plazo de los pacientes con osteosarcoma parostal de bajo grado es superior al 90%. La resección quirúrgica con márgenes amplios debe ser el tratamiento de elección y la reconstrucción biológica es una alternativa válida.

The objective of the study was to analyze a group of patients with low grade parosteal osteosarcoma treated with limb salvage surgery and reconstructed with bone allograft. A retrospective review from our oncologic data base between 1980 and 2010 was done and all patients with diagnosis of low grade parosteal osteosarcoma, treated with limb salvage surgery and reconstructed with allograft were included. Twenty-two patients were included for the analysis. The mean age was 32 ± 11 years (10-59) y the mean follow-up 93 ± 69 months (8-237). Ten year overall survival of the series was 91% (95%CI: 79-100). Four patients developed local recurrence, 2 of them histological classified after the resection dedifferentiated parosteal osteosarcoma. Two patients developed distant recurrence, being the lung the only site of metastasis. Ten year limb salvage reconstruction survival was 65% (95%CI: 44-86). Long term survival rate in low grade parosteal osteosarcoma is over 90%. Surgical resection wide margin should be the elective treatment and biological limb salvage reconstruction is a good alternative.

Jorge Lobo's disease

AbstractJorge Lobo's Disease is a rare, chronic granulomatous cutaneous mycosis, which is typical of tropical and subtropical regions. It is caused by the traumatic implantation of the fungus Lacazia loboi into the skin and subcutaneous tissue. The disease was first described in 1931 by Jorge Lobo, in Recife (PE), Brazil. It is common in Central and South America, and predominates in the Amazon region. We report a case of Jorge Lobo's Disease, which had been initially referred as being paracoccidioidomycosis. We emphasize clinical and diagnostic features of the disease.

Testicular calculus: A rare case

Testicular calculus is an extremely rare case with unknown etiology and pathogenesis. To our knowledge, here we report the third case of testicular calculus. A 31-year-old man was admitted to our clinic with painful solid mass in left testis. After diagnostic work-up for a possible testicular tumour, he underwent inguinal orchiectomy and histopathologic examination showed a testicular calculus.