Chilblain is a frostbite, it belongs to the vascular acrosyndromes by the mere fact of symmetrical lesions and to the dystrophic group by its organic obstructive and thrombotic microangiopathy, especially of venules. Chilblain is conditional on a dysesthesia for cold, diagnosis is easy if in the know, prognosis as usual good and treatment must be more preventive than curative.
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Biomedica
December 2024
Grupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., Colombia; Reumatología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Grupo de Inmunología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Departamento de Reumatología e Inmunología, Hospital Militar Central, Bogotá, D. C., Colombia.
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review.
View Article and Find Full Text PDFJ Transl Autoimmun
June 2025
Department of Dermatology, University Medical Center Regensburg, 93042, Regensburg, Germany.
Cutaneous (CLE) and systemic lupus erythematosus (SLE) are autoimmune diseases with a multifactorial pathogenesis. Ultraviolet radiation (UVR) is the most important trigger of CLE; however, the degree of photosensitivity varies between the clinical subtypes. The expression of matrix metalloproteinases (MMPs)-important enzymes involved in skin turnover and homeostasis-is modulated by UVR.
View Article and Find Full Text PDFExpert Opin Emerg Drugs
December 2024
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Introduction: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous monogenic autoinflammatory disorder classified as an 'interferonopathy'. Nine genes have been implicated in AGS, encoding proteins involved in nucleic acid clearance, repair, sensing, or histone pre-mRNA processing. Dysregulation in these pathways leads to excessive type I interferon production, the primary driver of the disease.
View Article and Find Full Text PDFJAAD Case Rep
December 2024
Department of Dermatology, Veterans Affairs Greater Los Angeles Healthcare System, Los Angeles, California.
J Am Acad Dermatol
November 2024
Department of Dermatology, University of California Irvine, Irvine, California. Electronic address:
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