Rare Diseases

All Items

• DOI: 10.12890/2026_006231

  Adult-onset Still’s disease presenting with progressive motor neuropathy

  Ana Rita Freire, Nádia Santos, Patrícia Fernandes, Diana Moura, Adriana Santos Silva

• DOI: 10.12890/2026_006200

  Looking beyond severe hypertriglyceridemia when diagnosing adult-onset citrullinemia type II

  Thanh-Huong Truong, Ngoc-Thanh Kim, Doan-Loi Do, Minh-Phuong Vu, Mai-Ngoc Thi Nguyen, Hong-An Le, Thanh-Tung Le

• DOI: 10.12890/2026_006166

  Concurrent idiopathic multicentric Castleman disease with TAFRO and Sjögren’s syndrome in a young patient: a challenging diagnostic overlap

  Maria Carolina Carvalho, Matilde Coimbra, João Fernandes Serodio, José Delgado Alves

• DOI: 10.12890/2026_006063

  Clarifying the diagnosis of Epstein-Barr virus related myositis in a genetically confirmed mitochondrial diabetes patient

  Michalis Picolos, Anna Kyriakidou, Anastasia Papapostolou, Georgios S. Papaetis

• DOI: 10.12890/2025_006016

  A case of Foix-Chavany-Marie syndrome with history of glioblastoma showing partial recovery

  Deeksha Seth, Musab Eltahir, Gita Gramizadeh-Naeini

• DOI: 10.12890/2025_005837

  Challenges in the management of patients with vascular Ehlers-Danlos syndrome: lessons from three clinical cases

  Lara Alayasa, Razan Fiala, Adriana Skafi, Tala Sulaiman, Matteo Lemoli, Giacomo Buso, Maria Lorenza Muiesan

• DOI: 10.12890/2025_006004

  The umbilical clue: recognizing Sister Mary Joseph’s nodule

  João Lança Pereira, Elisa Veigas, Catarina Rodrigues da Silva, Nídia Oliveira, Vitor Oliveira, Eurico Oliveira

• DOI: 10.12890/2025_005874

  Carbon monoxide poisoning-induced myositis

  Cyrine Abid, Zouhour Gassara, Afef Feki, Samar Benjemaa, Mohamed Hedi Kallel, Sofien Baklouti, Hela Fourati

• DOI: 10.12890/2025_005930

  Rosai Dorfman disease: a myriad of presentations-multisystem involvement including bone marrow

  Divya Joyce Susai Manickam, Viswanathan Pandurangan, Manisha Arthur, Devasena Srinivasan

• DOI: 10.12890/2025_005770

  Sudden tetraplegia from hypokalemic periodic paralysis due to cacna1s mutation: should genetic testing be performed more often?

  Simon Bedenbender, Jonas Einloft, Philipp Russ, Hendrik Leif Meyer, Jürgen R. Schäfer, Joachim Hoyer, Ivica Grgic