Autoinflammatory syndromes and diseases are a group of disorders of innate immunity. This group has grown rapidly in recent years as a result of research advancements in molecular biology and genetics. These diseases often present with skin manifestations and the dermatologist may not recognize the constellation of symptoms and medical history as a systemic inflammatory disease. Dermatologists would benefit from a deeper understanding of these diseases and the new treatments available for them.
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| http://dx.doi.org/10.1016/j.det.2013.04.010 | DOI Listing |
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Background: Anakinra is an interleukin-1 receptor antagonist (IL-1Ra). Since IL-1 has been shown to play a key role in the etiology of different autoinflammatory diseases, blocking its pathway has become an important therapeutic target, even in neonates.
Aims: We aimed to report our experience in using anakinra to treat specific neonatal inflammatory conditions.
VEXAS Syndrome: An Unusual Dermatological Presentation With Histiocytic Infiltration.
Int J Dermatol
January 2025
Department of Dermatology and Venereology, ULS São João, Porto, Portugal.
Hydroxychloroquine-induced Sweet's Syndrome: A Case Report and Literature Review.
Acta Derm Venereol
January 2025
Dermatology Department, Unidade Local de Saúde Santa Maria, Lisbon, Portugal; Dermatology University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; Dermatology Research Unit, Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal.
Sweet's syndrome (or acute febrile dermatosis) is a neutrophilic dermatosis with a characteristic presentation encompassing specific clinical (fever and erythemato-violaceous oedematous papules, plaques and nodules), laboratory (neutrophilia and increased inflammatory markers), and histological (dermal neutrophilic infiltrate without vasculitis) features. Its pathophysiology is poorly understood but there seems to be an auto-inflammatory component related to mutations in inflammasome genes. It has been subdivided into its classic form, malignancy-associated, and drug-induced, according to its aetiology.
View Article and Find Full Text PDFA novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome.
Hum Genome Var
January 2025
Division of Molecular Genetics, Center for Medical Science, Fujita Health University Hospital, Toyoake, Aichi, Japan.
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms.
View Article and Find Full Text PDFAutoinflammatory Bone Diseases.
Balkan Med J
January 2025
Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye.
Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not exhibit discernible microorganisms on histopathological examination.
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