Sofia Pimenta

Polyarticular lipoma arborescens—a clinical and aesthetical case

Lipoma arborescens is a benign tumor, but it may be a reactive process to other disorders, and its clinical, analytical, radiological and ultrasound presentation may be redundant to any synovial tumor. Despite the characteristic feature on magnetic resonance imaging (MRI), the correct differential diagnosis in atypical presentation, and the need for timely removal of the lesion to prevent joint damage, forces, ultimately, to invasive procedures. The clinical case reported here, fourth described in English language publications on the polyarticular form, also presented other specificities related to one of the swellings, in the knee. Because of its atypical location in the popliteal fossa, recurrent episodes of joint effusion, personal history of knee trauma, pulmonary tuberculosis, and family history of rheumatoid arthritis required particular attention. This process was hampered by the refusal of knee (and ankle) surgery by the patient. He accepted surgical removal of the swellings of the wrists, for aesthetical reasons, with pathologic confirmation of the diagnosis, and clinical success in that location. MRI of the knee showed the typical image of lipoma arborescens, but also other changes that compromise the prognosis.

The Clinical Significance of Autoantibodies in Hepatitis C Patients Submitted to Interferon Treatment

Hepatitis C virus is associated with several immune-mediated phenomena, presented usually as extra-hepatic hepatitis C manifestations. A predisposition to autoimmunity associated with the presence of baseline autoantibodies has been demonstrated in interferon mediated autoimmune diseases. We report a male patient, 34 years old, with genotype 1, chronic hepatitis C (hepatitis C viremia 1.432.463 UI/mL) and family history of psoriasis. He had high levels of transaminases and immunology showed positive antinuclear antibodies (1/320) and anti-smooth-muscle antibodies, with elevated immunoglobulin G (1740 mg/dL). Liver biopsy revealed a F1/2 Metavir score, histologic activity index of 3 and mild piecemeal necrosis. Antiviral treatment was started with peg-interferon α2a 180 mcg plus ribavirin 1200 mg, and the patient had rapid virologic response, normalization of transaminases, negativation of antinuclear antibodies positivity and decrease of immunoglobulin levels. However, at week 22, he developed psoriatic-like eczema and arthritis with functional limitation. Due to suspicion of latent psoriatic arthritis not previously diagnosed, he was started on methotrexate 10 mg/weekly with improvement of psoriatic plaques, arthritis and functional limitation. Patient achieved sustained virologic response, with normal transaminases and no significant changes in immunology. Post-treatment median hepatic elastography was 3.6 kPa. Autoimmunity in hepatitis C infection is not limited to surrogate autoantibody seropositivity, but may embrace the full spectrum of autoimmune disorders.

Sarcoidosis: An unusual presentation

A 35-year-old man presented with a 3-year history of arthralgia and purple coloration of the skin of his fingers and feet. Hand and foot radiography showed cystic bone lesions on phalanges suggestive of sarcoidosis. Lab tests revealed increased liver enzymes. Liver MRI evidenced an enlarged liver and retroperitoneal lymphadenopathy. Histological analysis of the finger skin, lymph nodes and liver demonstrated the presence of granulomas, confirming the diagnosis of sarcoidosis. The patient started prednisolone with rapid improvement of the symptoms. Skin lesions are divided into two groups: specific for sarcoidosis (with granulomas, lupus pernio-like) and nonspecific (without granulomas, erythema nodosum-like). Specific cutaneous lesions usually cause no other symptoms beyond cosmetic changes. Lupus pernio stands out for having distinctive features but, to the best of our knowledge, the simultaneous involvement of both hands and feet has never been reported.

Optic neuritis as presenting manifestation of Behçet's Disease with multisystem involvement

Neurology Department, Centro Hospitalar Vila Nova de Gaia/Espinho, Gaia, Portugal Rheumatology Department, Centro Hospitalar de São João, Porto, Portugal Neurology Department, Centro Hospitar de São João, Porto, Portugal Neurology and Neurosurgery Unit of Clinical Neurosciences and Mental Health Department, Faculty of Medicine, University of Porto, Porto, Portugal MedInUP, Center for Drug Discovery and Innovative Medicines, University of Porto, Porto, Portugal

Caracterização genotípica de uma população de doentes portugueses com síndrome de Marfan

Resumo Introducao O diagnostico da Sindrome de Marfan (SM) depende fundamentalmente de uma avaliacao clinica multidisciplinar. O seu diagnostico molecular, atraves da identificacao de mutacoes no gene FBN1, pode permitir estabelecer um diagnostico definitivo mesmo perante fenotipos atipicos ou «incompletos» e reconhecer precocemente portadores assintomaticos. Objectivos O presente trabalho teve como objectivo principal avaliar a frequencia e o tipo de mutacoes no gene FBN1, numa populacao de doentes com SM, referenciados a um centro hospitalar de cuidados terciarios, com cirurgia toracica. Metodos A nossa amostra incluiu 30 individuos com SM (provenientes de 14 familias), que foram avaliados em consulta de Cardiologia, Reumatologia e Oftalmologia. Em todos os casos foi efectuada a pesquisa de mutacoes no gene FBN1 a partir de ADN obtido de amostras de sangue periferico, utilizando a tecnica de amplificacao por Polymerase Chain Reaction e posterior sequenciacao genica. Resultados Identificamos 12 mutacoes distintas nas 14 familias estudadas. Destas, apenas duas estavam previamente descritas na literatura, sendo as restantes 10, novas mutacoes. Encontramos mutacoes missense em 36% dos casos e mutacoes conduzindo a formacao de codoes de terminacao prematura em 50% dos casos. Conclusoes Este trabalho constitui a primeira descricao de resultados de analise genotipica em doentes portugueses com SM, de que temos conhecimento. Com este trabalho, realcamos a importância de uma avaliacao clinica multidisciplinar e da utilidade da pesquisa de mutacoes no gene FBN1 em casos seleccionados. Ao descrever 10 novas mutacoes, contribuimos ainda para a ampliacao do espectro de variantes do gene da FBN1 associadas a SM.INTRODUCTION The diagnosis of Marfan syndrome (MFS) depends on a multidisciplinary clinical evaluation. Molecular study to identify mutations in the FBN1 gene can establish a definitive diagnosis even with atypical or «incomplete» phenotypes and enable earlier diagnosis in asymptomatic patients. OBJECTIVES The aim of the present work was to evaluate the frequency and type of FBN1 gene mutations in a population of Marfan syndrome patients referred to a tertiary care center with cardiothoracic surgery. METHODS Our sample included 30 individuals with MFS (from 14 families), evaluated in cardiology, rheumatology and ophthalmology consultations. In all patients, DNA was extracted from a peripheral blood sample and mutation screening of the entire coding sequence of the FBN1 gene was then performed, using the polymerase chain reaction. RESULTS We identified 12 different mutations in the 14 families studied. Of these, only two had been previously described in the literature, while the other 10 were found to be new mutations; 36% of patients carried a missense mutation and 50% carried a mutation leading to a premature termination codon. CONCLUSIONS To the best of our knowledge this is the first genotypic description of Portuguese patients with MFS. In this study, we highlight the need for comprehensive clinical evaluation of these patients and the value of FBN1 mutation analysis in selected cases. By describing 10 new mutations, we have also helped broaden the spectrum of known FBN1 mutations associated with MFS.

Hemichorea with antiphospholipid antibodies in a patient with systemic lupus erythematosus.

We present a report of a patient with systemic lupus erythematosus who subsequently developed hemichorea associated with increased anti-phospholipid antibodies values.