Rare Diseases

All Items

• DOI: 10.12890/2024_004511

  Autoimmune myelofibrosis revealing a systemic lupus erythematosus

  Fatimaezzahra Bensalek, Hajar Joulal, Jaouad Yousfi, Mouna Zahlane, Leila Benjilali, Lamiaa Essaadouni

• DOI: 10.12890/2024_004530

  Navigating a complex case of Mycobacterium xenopi in a patient with blue rubber bleb nevus syndrome

  Muhammad Umer Riaz Gondal, Luke Rovenstine, Fawwad Ansari, Zainab Kiyani, Devi Parvathy Jyothi Ramachandran Nair, Toqeer Khan, Anthony Donato

• DOI: 10.12890/2024_004415

  Disseminated melioidosis presenting as sepsis, neurological melioidosis, liver and prostate abscess in United Arab Emirates

  Maria Hasani, Sadia Rounak Shriya, Mariyam Thahira, Saima Haque, Saima Liyakat Khan, Azza Shaloob, Sara Osman

• DOI: 10.12890/2024_004278

  Annular leukocytoclastic vasculitis: a new feature of IgA vasculitis

  Nabil Belfeki, Nouha Ghriss, Sonia Kammoun, Souheil Zayet, Cyrus Moini, Benjamin Terrier

• DOI: 10.12890/2024_004421

  Lung underdevelopment: case reports and a literature review

  Ali Al-Tarbsheh, Ramez Halaseh, Veronica Williams, Kaila Schultz, Nydia Martinez

• DOI: 10.12890/2024_004450

  A rare case of IgG4-related disease causing inflammatory breast mass successfully treated with anti-CD20 biological therapy: a discussion of clinical case with literature review

  Sufian Rifaei, Shahd Etoom, Mahmoud Al-Balas

• DOI: 10.12890/2024_004370

  Haemophagocytic lymphohistiocytosis following the anti-PD-1 nivolumab in a patient with gastric cancer and ankylosing spondylitis

  Clara Long, Abdulrahman Al-Abdulmalek, Jonathan Lai, David G. Haegert, Stephane Isnard, Denis Cournoyer, Jean-Pierre Routy

• DOI: 10.12890/2024_004379

  Hyperargininemia: a rare diagnosis in adulthood

  Carolina Freitas Henriques, Rui Fernandes, Francisco Barreto, Rubina Miranda, Teresa Carolina Aguiar

• DOI: 10.12890/2024_004432

  Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma

  Mohamed A. Gharbi, Faten Limaiem, Khaled B. Romdhane, Anis Tebourbi, Ramzi Bouzidi, Mouadh Nefiss

• DOI: 10.12890/2024_004345

  Sudden visual loss due to arteritic anterior ischaemic optic neuropathy: A rare manifestation of eosinophilic granulomatosis with polyangiitis

  Antonio Faraone, Alberto Fortini, Vanni Borgioli, Chiara Cappugi, Aldo Lo Forte, Valeria Maria Bottaro, Augusto Vaglio