نتایج جستجو برای: poikiloderma with neutropenia syndrome

تعداد نتایج: 9376087  

2010
Élie Azoulay Michael Darmon

Acute respiratory failure is a life-threatening complication in cancer patients. During neutropenia, patients are at high risk for bacterial pneumonia or invasive fungal infections, when neutropenia is prolonged. A high proportion of patients in whom neutropenia had been complicated by pneumonia will present with substantial respiratory deterioration during neutropenia recovery. Patients with f...

Journal: :Cureus 2023

Felty syndrome is characterized by a triad of rheumatoid arthritis, neutropenia, and splenomegaly that typically occurs in patients with seropositive arthritis. We report case an 81-year-old man 22-year history arthritis who developed pancytopenia neutropenia for one month. An abdominal ultrasound revealed splenomegaly. A bone marrow biopsy increased CD8+ cells, consistent Felty’s syndrome. He ...

Journal: :The Netherlands journal of medicine 2015
T Jain C Mittal R Sengupta B Rubin

Felty's syndrome is a triad of rheumatoid arthritis, neutropenia, and splenomegaly. We hereby report an unusual case of non-articular Felty's syndrome and its management along with discussing the importance of appropriately ruling out alternate causes of neutropenia with splenomegaly.

Journal: :Postgraduate medical journal 1975
R S Chapman C J Paul

AN important location of reticulo-endothelial tissue is the dermis of the skin (Robb-Smith, 1944). As in other sites, this tissue can undergo proliferation, ultimately to give a lymphoma, the clinical presentation being termed mycosis fungoides by dermatologists. Evolution is slow, 20 years or more usually elapsing before frank malignancy occurs. At this stage the fungating skin tumours which A...

Journal: :Proceedings of the Royal Society of Medicine 1944

Journal: :Cermin Dunia Kedokteran 2022

Sindrom Felty merupakan kondisi medis dengan karakteristik trias yaitu artritis reumatoid, neutropenia, dan splenomegali; terjadi pada beberapa kasus reumatoid erosif yang sudah berlangsung lama. Hanya 1 – 3% pasien akan berkembang menjadi Felty. Genetik (HLA-DR4) faktor lingkungan berperan dalam terjadinya ini. Neutropenia persisten hitung neutrofil absolut umumnya kurang dari 1500/mm3 ciri kh...

2012
Elisa A Colombo J Fernando Bazan Gloria Negri Cristina Gervasini Nursel H Elcioglu Deniz Yucelten Ilknur Altunay Umram Cetincelik Anna Teti Andrea Del Fattore Matteo Luciani Spencer K Sullivan Albert C Yan Ludovica Volpi Lidia Larizza

BACKGROUND Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients. RESULTS We characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoire of the gene. We detect the two novel C16orf57 mutations, c.232C>T and c.265+2T>G, as well as t...

2010
Lien De Somer Carine Wouters Marie-Anne Morren Rita De Vos Joost Van Den Oord Koenraad Devriendt Isabelle Meyts

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions compl...

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