Rare Diseases

All Items

• DOI: 10.12890/2026_007500

  Pulmonary sclerosing pneumocytoma may be an under-recognized pulmonary manifestation of the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumour syndrome

  Arwa Alghamdi, Amani Alotaibi, Ajwan Aljohani, Adel Almaymuni, Wajd Althakfi, Waseem M. Hajjar

• DOI: 10.12890/2026_007169

  Triple-positive antiphospholipid syndrome with splenic infarction triggered by tocilizumab withdrawal in a high-titer ACPA-positive rheumatoid arthritis patient: an unmasking storm of polyautoimmunity

  Francesco Elios Coviello, Cinzia Rotondo, Francesca D’Onofrio, Raffaele Barile, Francesco Paolo Cantatore, Addolorata Corrado

• DOI: 10.12890/2026_007315

  Shrinking lung syndrome with favourable response to belimumab and corticosteroids alone

  Rémy Père, Anouk Le Goueff, Marina Nguenang

• DOI: 10.12890/2026_007288

  Scleroedema preceding monoclonal gammopathy by 30 years

  Ami Schattner

• DOI: 10.12890/2026_007405

  Pyoderma gangrenosum and haematochezia in a patient with previous cocaine abuse

  Myrianthi Hadjicharalambous, Sofia Symeonidou, George Georgiou, Chara Azina, Antreas Ioannou

• DOI: 10.12890/2026_006857

  Behçet’s disease in non-endemic areas: a delayed diagnosis in a young male with recurrent bipolar aphthosis

  Mauricio Daniel Cisneros Chávez, Diego Antonio Mendoza Revilla, Victor Gabriel Jimenez Madrigal

• DOI: 10.12890/2026_007411

  Intravascular large B-cell lymphoma presenting with rhabdomyolysis and inflammatory myositis: a diagnostic challenge

  Queen Okereke, John Wood, Alana Gedrose

• DOI: 10.12890/2026_007386

  Acute hemiparesis as the initial manifestation of Chiari I-associated syringomyelia: a stroke mimic

  Suhasini Rallabandi, Robin Mcfarlane, Ruoyan Zhu, Ipsita Chauhan, Mansi Sharma, Amrut Savadkar, Vimala S. Vajjala

• DOI: 10.12890/2026_007371

  Celiac Disease as a Gastrointestinal Manifestation in a Patient with CARMIL2 Deficiency: A Case Report and Review of Current Literature

  Ahmed T. AlHawamedeh, Nasser F. AlSunbul, Muhammad F. Mubarak

• DOI: 10.12890/2026_007360

  Primary pleural epithelioid angiosarcoma presenting with recurrent haemorrhagic pleural effusions

  Eleanor Dorman, Shubhada Bansode, Rizwan Kaiser