Rare Diseases

All Items

• DOI: 10.12890/2025_005229

  Monoclonal gammopathy of undetermined significance with associated necrotizing myopathy: a case report and review of the literature

  Anna Bode, Oscar F. Borja Montes, Karen SantaCruz, Abu Baker Sheikh

• DOI: 10.12890/2025_005285

  From routine to ruin: an astonishing computed tomography scan reveals catastrophic Ludwig’s angina and necrotizing mediastinitis after a simple dental procedure

  Amer Abu-Shanab, Anoohya Vangala, Zain Albdour, Hamzeh Nasr, Malay Rathod, Doantrang Du

• DOI: 10.12890/2025_005277

  An XY female

  Marwa Al-Qudheeby, Dhari Alharbi, Layal Alqaysi, Fatemah Alshaer, Lulwa Al-Enezi

• DOI: 10.12890/2025_005153

  Budd-Chiari syndrome as the presenting feature of systemic immunoglobulin light chain amyloidosis

  João Luís Miranda, Catarina Salvado, Francisca Carmo, Adriana Guedes, Albina Moreira, Tiago Guimarães Costa, Leonor Silva

• DOI: 10.12890/2025_005197

  Epstein-Barr virus induced myositis in a patient with mitochondrial diabetes

  Anna Kyriakidou, Anastasia Papapostolou, Michalis Picolos

• DOI: 10.12890/2025_005198

  Hepatoerythropoietic porphyria with coexisting BTD and CNGB1 genetic mutations: a first case report

  Çağdaş Kaya, Ayli Heydari, Oğuz Kızılay , Ozan Kızılay, Gülbüz Sezgin

• DOI: 10.12890/2025_005184

  Aggressively quick: a case of negative radiographic evidence progressing to a large lobulated lung mass in six months

  Nizar Alyassin, Karam Zakharia, Mubarak Yusuf, Laxminarayan Prabhakar, Medhat Ismail

• DOI: 10.12890/2025_005185

  Pott’s puffy tumor associated with subperiosteal empyema and osteomyelitis in a pediatric patient

  Hassan Akhtar, Fiona Sweeney, Wojciech Wawrzynek

• DOI: 10.12890/2025_005127

  An association between MEFV mutation and ANCA-associated vasculitis involving the central nervous system and lungs: causality under scrutiny

  Marcus Villander Barros de Oliveira Sá, Amanda Brito , Miriam Baié, Flavio Pacheco , Luydson Vasconcelos

• DOI: 10.12890/2024_005056

  Upper arm deep vein thrombosis in a patient with active lupus

  Mahmoud Farouk Kamel Hassanein, Alaa Ebrahim, Stephanie Alcine Joseph, Teresa Jack, Ramprasath Anbazhagan, Miguel Fernández Olivares, Olena Kovalska