Tumid lupus is an uncommon variant of lupus erythematosus. Patients present with subcutaneous lesions. Ophthalmic literature reports disease manifestation as orbital inflammation. Autoimmune serology is often negative. Without a high index of suspicion, the diagnosis is easily overlooked delaying treatment. Tumid lupus is not significantly discussed in the Otolaryngologic literature. Here we present a Case Report of a male who initially presented to Ophthalmology with unilateral orbital complaint of eyelid puffiness. Orbital biopsy and subsequent biopsy of his submental skin lesions ultimately led to this unexpected diagnosis. We discuss the method to diagnose tumid lupus including representative histopathologic findings.
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http://dx.doi.org/10.1016/j.amjoto.2017.01.003 | DOI Listing |
J Exp Med
August 2024
Division of Immunology and Molecular Medicine, Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
Nucleic acid-sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease or virus-associated immunopathology. Here, we report a systematic scanning-alanine mutagenesis screen of all cytosolic and luminal residues of the TLR chaperone protein UNC93B1, which identified both negative and positive regulatory regions affecting TLR3, TLR7, and TLR9 responses. We subsequently identified two families harboring heterozygous coding mutations in UNC93B1, UNC93B1+/T93I and UNC93B1+/R336C, both in key negative regulatory regions identified in our screen.
View Article and Find Full Text PDFJ R Coll Physicians Edinb
June 2024
Castle Hill Hospital, Hull University Teaching Hospitals NHS Trust, Cottingham, UK.
A case of a 28-year-old woman with known C1-inhibitor deficiency (functional, Type II) with persistent bilateral non-pruritic, mildly photosensitive facial rash for 10 months following delivery of her second child is presented. Histology of the skin was suggestive of tumid lupus erythematosus (LE), but no other features of systemic LE (ANA, dsDNA negative) were evident. She had stopped danazol which was controlling the underlying disease, and once this was restarted and treatment for tumid lupus was started, she improved.
View Article and Find Full Text PDFDiagnostics (Basel)
April 2024
Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy.
Tumid lupus erythematosus (TLE) has been the subject of heated debate regarding its correct nosographic classification. The definition of TLE has changed over time, varying according to the different studies performed. In this review, we address the initial definition of TLE, the changes that have taken place in the understanding of TLE, and its placement within the classification of cutaneous lupus erythematosus (CLE), with a focus on clinical, histopathological, immunophenotypical, and differential diagnosis aspects.
View Article and Find Full Text PDFJ Osteopath Med
June 2024
Sun State Dermatology, Orlando, FL, USA.
Lupus Sci Med
December 2023
Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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