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Annular elastolytic giant cell granuloma: a "visible" diagnosis
Get PDFAnnular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin disease of undetermined cause, characterized by annular plaques with raised erythematous borders in sun-exposed skin. The typical histologic features are dermal infiltration by multinucleated giant cells, elastin degeneration, and elastophagocytosis. The authors describe a clinical case of AEGCG, which exhibited an excellent response to hydroxycloroquine.info:eu-repo/semantics/publishedVersio
Behçet's disease - a difficult disease in terms of diagnosis in an adolescent patient
Get PDFIntrodução: A Doença de Behçet (DB) é uma vasculite multissistémica, de diagnóstico apenas clínico, e rara em idade pediátrica.
Caso Clínico: Adolescente de 17 anos com úlceras aftosas orais de repetição desde há quatro anos, sem outros sinais ou sintomas associados. Hipóteses diagnósticas como infecções, hipovitaminoses, alergia alimentar e doença celíaca foram excluídas. O diagnóstico de DB foi também ponderado, tendo realizado teste de patergia, com resultado negativo. Aos 16 anos, a doente apresenta lesões papulopustulares mentonianas, indistinguíveis de acne vulgar, e aos 17 anos, um episódio de úlceras genitais. Foi referenciada a Reumatologia pediátrica e, perante um provável diagnóstico de DB, iniciou colchicina oral, com redução do número e da recorrência das úlceras aftosas orais.
Discussão: A adolescente poderá apresentar critérios suficientes para se diagnosticar DB. Este caso exemplifica a importância do acompanhamento contínuo dos doentes, realça o carácter insidioso de algumas doenças reumáticas e a dificuldade de diagnosticar DB em idade pediátrica.info:eu-repo/semantics/publishedVersio
Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type
Get PDFLattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure. She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja's syndrome at the age of 50, confirmed by the presence of gelsolin mutation. At our observation she had bilateral diminished tear film break-up time and Schirmer test, diffuse keratitis, corneal opacification, and neovascularization in the left eye. She was treated with preservative-free lubricants and topical cyclosporine, associated with nocturnal complete occlusion of both eyes, and underwent placement of lacrimal punctal plugs. Ocular symptoms are the first to appear and our role as ophthalmologists is essential for the diagnosis, treatment, and monitoring of ocular alterations in these patients.info:eu-repo/semantics/publishedVersio
Efficacy and Safety of Direct-Acting Oral Anticoagulants Use in Acute Portal Vein Thrombosis Unrelated to Cirrhosis
Get PDFIn acute portal vein thrombosis (APVT) unrelated to cirrhosis, anticoagulant therapy is classically started with low molecular weight heparin or vitamin K antagonists. New direct-acting oral anticoagulants (DOACs) are used in the treatment of venous thrombosis outside the splanchnic vascular bed, but not in the latter. We report a young female with APVT occurring in a non-cirrhotic liver linked to heterozygosity of factor V-Leiden and prothrombin G20210A gene mutations. Rivaroxaban was started, with total recanalization of the left and partial recanalization of the right portal vein branches, without complications. New DOACs do not need daily subcutaneous injections nor routinely blood coagulation control tests, making its use attractive, eventually increasing patient's compliance. If proved to be safe and effective in the future studies, its use may be extended to PVT treatment. This case shows that rivaroxaban was safe, not only prevented the extension of thrombosis in the portal tract, but also resolved PVT, at least partially.info:eu-repo/semantics/publishedVersio
KÉRION CELSI: A RARE COMPLICATION OF TINEA CAPITIS
No full textA Tinea capitis atinge maioritariamente crianças em idade escolar, sendo a transmissão possível através do contacto com animais infetados, solo, de pessoa para pessoa ou através de objectos contaminhados. A apresentação clínica varia desde uma dermatose descamativa não inflamatória até uma doença inflamatória com lesões eritematosas e descamativas com alopécia, podendo progredir para lesões do tipo Kérion celsi. O Kérion caracteriza-se por uma placa inflamatória, bem delimitada e dolorosa, com pústulas e abcessos com tendência supurativa, e como consequência formam-se cicatrizes que podem condicionar alopécia definitiva.
Apresenta-se o caso clínico da uma criança de dez anos, residente em meio rural, que após traumatismo crânioencefálico, desenvolveu uma lesão do couro cabeludo diagnosticada como Kerion celsi.
Os autores visam chamar a atenção para uma complicação rara de uma patologia frequente, que pode condicionar alopécia permanente.Tinea capitis affects mostly children at school age. The transmission is possible through contact with infected animals, soil, from person to person and from contaminated objects. The clinical presentation ranges from a non-inflammatory lesion to an inflammatory disease with erythematous scaly lesions with alopecia, that may progress to Kerion celsi. Kerion is characterized by an inflammatory well-delimited and painful plaque, with pustules and suppurative abscesses. The resulting scars can cause alopecia. We report the clinical case of a tenyear- old child, residing in a rural area, who developed a scalp lesion after skull trauma, diagnosed as Kerion celsi. The authors want to draw attention to a rare complication of a common condition that may lead to permanent alopecia.info:eu-repo/semantics/publishedVersio
Gravidez cervical: diferentes cenários clínicos que conduzem ao seu diagnóstico
No full textWe report all the cases of cervical pregnancy managed in our institution in the past ten years. One of them was treated with methotrexate. The other one was the result of in vitro fertilization, leading to an early embryo reduction. The last one was misdiagnosed as an uterine abortion and was submitted to dilatation and curettage with profuse bleeding, uterine perforation and need of laparotomy. As it continues to be a rare condition, the most important step in cervical pregnancy continues to be thinking about the possibility of its occurrence, because if it remains unrecognized it may have an end in an unfavorable outcome.Este artigo descreve todos os casos de gravidez cervical que ocorreram na nossa instituição nos últimos dez anos. Um deles foi resolvido com metotrexato. Outro resultou de fertilização in vitro, tendo havido a necessidade de fazer uma redução embrionária precoce. O último foi mal interpretado como sendo um abortamento intrauterino, tendo sido a doente submetida a dilatação e curetagem, que resultou em hemorragia profusa, perfuração uterina e necessidade de laparotomia. Como a gravidez cervical continua a ser uma condição rara, o passo mais importante continua a ser pensar na possibilidade da sua ocorrência, porque uma gravidez cervical não reconhecida pode culminar num mau desfecho.info:eu-repo/semantics/publishedVersio
Hemangioma do Cordão Umbilical com Pseudocisto Associado: Um Achado Raro
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Corino de Andrade disease: mechanisms and impact on reproduction
Get PDFFamilial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references. In this review, we briefly summarize the epidemiology and the mechanisms involved on amyloid deposition; we detailed how to evaluate the mechanisms implicated on the development of the major signs and symptoms associated with reproductive dysfunction; and we discuss the mechanisms involved in secondary sexual dysfunction after psychological treatments. Treatment of the disease is directed towards relieving specific symptoms in association with liver transplant, and molecular and genetic therapeutics. Although the current clinical trials indicate symptoms relief, no data on the reproductive function was reported. Thus, preimplantation genetic diagnosis is presently the only available technique that eradicates the disease as it avoids the birth of new patients.info:eu-repo/semantics/publishedVersio
Are we building too many arteriovenous fistulas? A single-center experience
Get PDFIntroduction: Arteriovenous fistula has been associated with improved morbimortality in hemodialysis patients. This has resulted in the “fistula First, catheter last” initiative. Nonetheless, the survival benefit of arteriovenous fistula has been questioned.
Methods: We conducted a retrospective observational study of all patients with non-end stage renal disease referred for first vascular access building between January 2014 and December 2015 in our hospital center. Our main goal was to evaluate the clinical impact and burden of building fistula in predialysis patients.
Results: During this period, of 178 first arteriovenous accesses placed, 87 patients remained in predialysis and 91 patients started a chronic hemodialysis program. Median follow-up time by a nephrologist was 3.9 (2.5, 9.7) years. The mean age was 65.8±14.7 years, with 50.6% (n=90) of male patients. A higher rate of thrombosis in the predialysis group (26% vs 13%, p=0.037) was observed, but vascular access survival did not differ significantly (55% vs 67%, p=0.12). Mean vascular access placing was higher in the predialysis group (1.4±0.7 vs 1.2±0.4, p=0.006) and less interventions were requested (0.2±0.5 vs 0.3±0.6, p=0.10). Median time from vascular access placement to hemodialysis start was 22 (13, 41) months. At hemodialysis initiation, 10 (10.9%) patients used a central venous catheter; 80 (87.9%) patients an arteriovenous fistula, and one patient a graft. A total of 227 vascular accesses were built; 121 (53.3%) in predialysis vs 106 (46.7%) in incident hemodialysis patients. In a multivariate model, the presence of a functional arteriovenous fistula at hemodialysis start was only associated with a trend to survival benefit (HR 0.38, 95% CI 0.14-1.00, p=0.05).
Conclusions: Our results stress the need for an individual approach and for future tools to assess the risk of death and progression to end-stage renal disease, therefore helping reduce the number of unutilized vascular accesses and rising cost of interventions.info:eu-repo/semantics/publishedVersio
Pinceladas da História, do Presente e do Futuro do Serviço de Medicina Interna do Hospital de Santo António – Centro Hospitalar do Porto
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