DSpace Collection:http://hdl.handle.net/11422/252222026-04-28T13:07:33Z2026-04-28T13:07:33ZHanseníase dimorfa e suas particularidades: uma revisão bibliográficaMesquita, Lara Gonçalveshttp://hdl.handle.net/11422/261212025-06-14T03:00:11Z2024-01-01T00:00:00ZTitle: Hanseníase dimorfa e suas particularidades: uma revisão bibliográfica
Author(s)/Inventor(s): Mesquita, Lara Gonçalves
Advisor: Ramos-e-Silva, Marcia
Abstract: Leprosy is one of the oldest diseases known to humanity, with historical records including references in the Bible. For centuries, leprosy was often confused with various dermatological conditions, which made diagnosis difficult and reinforced its stigmatization. It was only in 1873 that Mycobacterium leprae was identified as the etiological agent, challenging old conceptions and paving the way for a more scientific and evidence-based treatment. The disease presents a wide range of clinical manifestations, which reflect the host's immune response. The borderline form, or dimorphic leprosy, is particularly complex and lies between the tuberculoid and lepromatous poles. It is important to note that this form is unstable and may progress to either milder or more severe forms of the disease. From an immunological perspective, this form shows a mixed response, in which both cellular and humoral immunity are present, though ineffectively. Treatment involves multidrug therapy (MDT) with rifampicin, dapsone, and clofazimine. Multidisciplinary follow-up is essential to improve patients' quality of life, reduce the psychological impact caused by the disease’s stigma, and prevent disabilities.
Publisher: Universidade Federal do Rio de Janeiro
Type: Trabalho de conclusão de especialização2024-01-01T00:00:00ZMastocitoses cutâneas: revisão de literaturaAlmeida, Gabriela Campos dehttp://hdl.handle.net/11422/261202025-06-14T03:00:11Z2024-01-01T00:00:00ZTitle: Mastocitoses cutâneas: revisão de literatura
Author(s)/Inventor(s): Almeida, Gabriela Campos de
Advisor: Barreto, Marselle Codeço
Abstract: Objective: To classify cutaneous mastocytosis to better understand its prognosis and establish appropriate treatment. Method: Literature review using the PubMed platform. Result: Mastocytosis is a rare disease characterized by the proliferation and accumulation of mast cells in the skin or other tissues. The skin is the most commonly affected organ. Approximately 100% of children and 80% of adults with mastocytosis present with cutaneous lesions. According to the classification proposed by the World Health Organization (WHO) in 2016, cutaneous mastocytosis can be subdivided into three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis, and cutaneous mastocytoma. This subdivision is related to the disease’s prognosis and shows that lesions appearing in childhood are usually limited to the skin, whereas those arising in adulthood tend to have a more chronic course and require investigation for systemic mastocytosis. Conclusion: Understanding cutaneous mastocytosis and properly classifying it is crucial not only for the effective treatment of the condition but also for establishing its prognosis.
Publisher: Universidade Federal do Rio de Janeiro
Type: Trabalho de conclusão de especialização2024-01-01T00:00:00ZInvestigação diagnóstica da porfiria hepatoeritropoiética: revisão de literatura com relato de casoAzevedo, Iasmin Damas deAzevedo, Iasmin Damas dehttp://hdl.handle.net/11422/253472025-03-19T03:00:15Z2024-01-01T00:00:00ZTitle: Investigação diagnóstica da porfiria hepatoeritropoiética: revisão de literatura com relato de caso
Author(s)/Inventor(s): Azevedo, Iasmin Damas de; Azevedo, Iasmin Damas de
Advisor: Saintive, Simone
Abstract: Objective: Illustrate the importance of semiology in diagnosing a rare disease. Method: This study consists of a case report and medical record analysis, conducted after obtaining approval from the Research Ethics Committee (CEP) of the Martagão Gesteira Institute of Puericulture and Pediatrics, Federal University of Rio de Janeiro (IPPMG). A subsequent literature review was performed using the PubMed platform. Results: Hepatoerythropoietic porphyria (HEP) is a rare condition characterized by cutaneous and hematological manifestations, with fewer than 100 cases described worldwide as of 2022. HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which is involved in normal heme synthesis, leading to the accumulation of uroporphyrin and other porphyrin
precursors. This enzymatic deficiency results in hepatic porphyrin overload and urinary excretion, contributing to the disease's characteristic cutaneous symptoms. Diagnosis requires measuring serum, urinary, and fecal porphyrins, as well as genetic analysis, which plays a crucial role in identifying pathogenic variants in the UROD gene. Clinically, the disease presents with intense photosensitivity, blister formation, hypertrichosis, scarring, and sometimes milia. In addition to skin symptoms, pink or reddish urine and hemolytic anemia may also be observed. Treatment for HEP is primarily symptomatic, emphasizing the prevention of cutaneous complications through measures such as sun protection and management of hematological manifestations. Conclusion: In each type of porphyria, cutaneous symptoms are associated with different enzymatic deficiencies, guiding diagnostic investigation. Genetic
counseling is essential to inform family members about the risk of transmission and implement appropriate prevention strategies. The disease's peculiar clinical presentation and low prevalence justify the need for an interdisciplinary approach to its management.
Publisher: Universidade Federal do Rio de Janeiro
Type: Trabalho de conclusão de especialização2024-01-01T00:00:00Z