Rare deseases

All Items

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  Spectrum of LRP5-Related Bone Disease Within a Single Family: Osteoporosis-Pseudoglioma Syndrome in Two Siblings and Adult-Onset Osteoporosis in their Mother

  Christine Canizes Paiva, Tiago Jorge Costa, Odete Duarte, Joana Cascais Costa, Hélder Esperto

  15-20
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  Sub-Acute Budd-Chiari Syndrome

  Andréa de Gottardi, Silke Klapdor

  16-19
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  Dendriform Pulmonary Ossification in a Patient with Fibrotic Interstitial Lung Disease

  Nuno Pardal, Patrícia Tinoco Araújo, Luís Pontes dos Santos

  188-190
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  Rare and Challenging Skin Lesions: A Case Report of Pityriasis Lichenoides et Varioliformis Acuta

  Inês Salvado de Carvalho, Maria João Baldo

  186-187
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  Type 1 Neurofibromatosis: Adulthood Diagnosis and New Variant

  Pedro Simões, Micaela Sousa, Ana Teresa Rocha

  182-183
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  Caseous Calcification: An Unexpected Echographic Finding

  Carolina António Santos, Ana Cardoso, Inês Parreira

  72-74
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  Cotrimoxazole Induced Toxic Epidermal Necrolysis: A Clinical Case

  Carolina Veiga, Rita Sevivas, Gabriela Paulo, Ilda Coelho, Carla Lemos Costa

  51-54
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  Uncommon Debut: Orbital Pseudotumor as the Initial Presentation of IgG4-Related Disease Pseudotumor Orbitário como Apresentação Inicial de Doença Relacionada com IgG4

  Ana Carolina Monteiro, Ana Rubim Correia , Tomás Fonseca

  159-60
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  Agenesis of Pulmonary Artery: Isolated Right Pulmonary Artery Agenesis Agenesia de Artéria Pulmonar: Agenesia Isolada da Artéria Pulmonar Direita

  Ana Martins Neves, Sócrates Naranjo, Tiago Rodrigues

  169-70
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  From Postpartum Hemorrhage to Acquired Hypopituitarism: Clinical Case Da Hemorragia Pós-Parto ao Hipopituitarismo Adquirido: Caso Clínico

  Joana Gomes da Cunha, Carolina Anjo, Gabriel Atanásio, Vera Romão, Marta Gonçalves Ferreira

  109-112
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  Spontaneous Dissection of the Celiac Trunk: Case Description and Literature Review

  Rita Pinto Araújo, Alexandra Machado, Gisela Vasconcelos, Teresa Pereira, Andreia Tavares

  49-52
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  DiGeorge Syndrome: The Late Diagnosis That Makes Sense – Clinical Case Report

  Bianca Cristea, Tiago Ferreira, Jorge Ferreira, Sandra D. Rebelo, Ana Tornada, Paula Alcântara

  58-62
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  Contact Dermatitis by Bleach Exposure

  Rita Sevivas, Catarina Pinto Silva, Carolina Veiga

  91-92

• A Rare Case of Septic Pulmonary Embolism Caused by Urosepsis Caused by Escherichia coli

  Diana Isabel Rocha, Isabel Fonseca Silva, Helena Isabel Carvalho, Álvaro Ferreira

  27-31
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  A Rare Case of Herpes Zoster with Simultaneous Involvement of the First and Second Divisions of The Trigeminal Nerve

  João Manuel Silva, Joana Gomes, Cátia Santos

  68-69
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  Retrorectal Hamartoma: Magnetic Resonance Imaging Diagnosis of a Congenital Abnormality

  Natã Nascimento de Jesus Graça , Marcelo de Queiroz Pereira da Silva2, Márcio Luís Duarte

  85-86
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  Mycoplasma Pneumoniae-Induced Rash and Mucositis: A Case Report and Literatura Review

  Bárbara Oliveira, Sara Costa, Juliana Sá, Guilherme Castro Gomes

  4-7

• Pseudoappendicitis due to Yersinia pseudotuberculosis: A Case Report with a Fatal Outcome

  Cláudia Antunes, Daniela Antunes, Cátia Santos, Ana Araújo, Luís Pereira

  13-15

• Familial Amyloid Polyneuropathy: A Hereditary Disease, Not Always with Known Family History

  Ana F. Batista, Ana F. Costa, Sara Fontaínhas, Catarina Camarneiro, Sónia C. Pereira

  192-196
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  Erythema Ab Igne

  Fábio Caleça Emídio, Teresa Abegão, Pedro Gomes Santos, Sofia Amálio

  205-206
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  Solitary Fibrous Tumor of The Pleura: Revealed by the Flu

  Susana Conceição, António Trigo, Beatriz R. Sousa, José Ribeiro

  201-202

• Toxic Epidermal Necrolysis: A Rare Entity to Be Considered

  Mariana Quelhas, Daniela Nascimento Silva, Ana Catarina Rodrigues, Lucia Cristina Carrera Bolaños, Aida Cordero Botejara, Maria del Mar Barba Dominguez

  175-178
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  Moyamoya Disease: An Unexpected Diagnosis

  Susana Conceição, Russo Esteves, Rita Prayce, Adriana Watts Soares

  155-156
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  Kikuchi Disease: A Case Report

  Margarida L. Nascimento, Filipa Malheiro, Alexandra Bayão Horta

  111-112
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  Extensive Urticarial Vasculitis Lesions in a Post-COVID Patient: A Clinical Image Report

  João Lázaro Mendes, Paula Manuel, Edite Nascimento

  104-106