Rare Diseases

All Items

• DOI: 10.12890/2026_006206

  An unusual syndromic presentation in diabetes: histiocytosis-lymphadenopathy plus syndrome

  Hanae Rachedi, Khawla Rhouzali, Yousra Laalaoua, Nisrine Bouichrat, Siham Rouf, Hanane Latrech

• DOI: 10.12890/2026_006604

  Severe hypocalcaemia with elevated PTH and normal vitamin D: a diagnostic pitfall due to chronic negative calcium balance in a vegan patient

  Manuel Serrano Quero

• DOI: 10.12890/2026_006099

  Cardiac involvement as first manifestation of peripheral T-cell not otherwise specified lymphoma

  Paula Awamleh García, Manuel Emilio Monguió Santín, Carla López Martínez, Susana Hernández Muñiz, Miguel de la Serna Real de Asúa, Rosalía Alonso Trillo, María Isabel Delgado Trillo

• DOI: 10.12890/2026_006571

  Postpartum Parsonage-Turner syndrome with hourglass constrictions and spontaneous recovery without surgical intervention

  Joanna Choi-Klier

• DOI: 10.12890/2026_006584

  Acute intermittent porphyria mimicking severe coprostasis in a patient on opioid maintenance therapy

  Carolin Glatzle, Felix Gerstendörfer, Armon Arpagaus, Flavio Gössi

• DOI: 10.12890/2026_006261

  Coexisting Waldenström macroglobulinaemia and alveolar echinococcosis presenting with chylothorax that resolved on treatment: a diagnostic and therapeutic challenge

  François Perramond, Serge Bugnon, Jérôme Voegeli, Annalisa Berzigotti

• DOI: 10.12890/2026_006560

  Unmasking VEXAS syndrome: a rare case with crescentic glomerulonephritis

  Tattvam Shah

• DOI: 10.12890/2026_006241

  Management of rapidly progressive symptomatic splenomegaly with associated pancytopenia: a rare case of splenic hamartoma

  Dimitra Taprantzi, Irene Terzi, Dimitrios Velissaris, Evgenia Verigou, Nikolaos Mpenetatos, Charalampos Potsios

• DOI: 10.12890/2026_006217

  When Erdheim-Chester disease reaches the pectoral muscle

  Nele Carton, Nilüfer Aylin Acet Öztürk, Mine Özşen, Özge Aydın-Güçlü, Ahmet Ursavaş

• DOI: 10.12890/2026_006244

  When allergy strikes the heart: Kounis syndrome and cardiac arrest

  Marta Chiara Sircana, Roberto Manetti, Gavino Casu, Alfredo Caturano