Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a patient with subacute cutaneous lupus (SCLE)

BMJ Case Reports, Год журнала: 2025, Номер 18(1), С. e261174 - e261174

Опубликована: Янв. 1, 2025

A man in his 60s suffered from refractory, biopsy-proven subacute cutaneous lupus erythematosus that required chronic, moderate dose steroids to manage. His rash was accompanied by arthralgias and negative autoantibody testing. (SCLE) responsive tofacitinib, but thrombotic complications limited the use of this medication. He continued prednisone 20 mg daily manage symptoms until treatment with anifrolumab completely cleared skin. During a subsequent taper, he developed macrocytic anaemia elevated liver function tests progress. Ultimately, bone marrow biopsy myeloid next-generation sequencing revealed cellular vacuoles UBA1 gene mutation, respectively, consistent diagnosis VEXAS ( v acuoles, E 1 enzyme, X -linked, utoinflammatory, s omatic) syndrome. We believe chronic steroid control SCLE masked underlying for many years.

Язык: Английский

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Case Report: Subacute cutaneous lupus erythematosus induced by the anti-PD-1 antibody camrelizumab combined with chemotherapy

Frontiers in Immunology, Год журнала: 2025, Номер 16

Опубликована: Март 28, 2025

The use of immune checkpoint inhibitors (ICI) can lead to immune-related adverse events (irAE), which skin irAE is common, affecting up 50% ICI-treated patients. Although only a few cases subacute cutaneous lupus erythematosus (SCLE) have been reported in patients receiving anti-programmed death-1(anti-PD-1) immunotherapy, it important identify ICI-induced SCLE because may cause delayed and/or prolonged reactions even after treatment discontinuation. To date, no associated with Camrelizumab reported. We report case patient advanced non-small cell lung cancer (NSCLC) who gradually developed erythematous rashes on sun-exposed pruritus one course anti-PD-1 antibody combined chemotherapy. were initially considered as eczema, but did not improve symptomatic treatment. continued worsen the third treatment, and was unbearable. After testing, found positive anti-SS-A/Ro antibody, histological changes consistent erythematosus. controlled local systemic glucocorticoids, hydroxychloroquine, discontinuation therapy. be appearance regions, rapidly relieved by glucocorticoids hydroxychloroquine. It recommended perform early testing biopsy for diagnosis Unlike classic drug-related SCLE, develop multiple autoimmune diseases, caution should taken when using subsequent

Язык: Английский

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Fluorescent probes in autoimmune disease research: current status and future prospects

Journal of Translational Medicine, Год журнала: 2025, Номер 23(1)

Опубликована: Апрель 9, 2025

Autoimmune diseases (AD) present substantial challenges for early diagnosis and precise treatment due to their intricate pathogenesis varied clinical manifestations. While existing diagnostic methods strategies have advanced, sensitivity, specificity, real-time applicability in settings continue exhibit significant limitations. In recent years, fluorescent probes emerged as highly sensitive specific biological imaging tools, demonstrating potential AD research.This review examines the response mechanisms historical evolution of various types probes, systematically summarizing latest research advancements application autoimmune diseases. It highlights key applications biomarker detection, dynamic monitoring immune cell functions, assessment drug efficacy. Furthermore, this article analyzes technical currently encountered probe development proposes directions future research. With ongoing materials science, nanotechnology, bioengineering, are anticipated achieve higher sensitivity enhanced functional integration, thereby facilitating monitoring, innovative Overall, possess scientific significance value both related diseases, signaling a new era personalized precision medicine.

Язык: Английский

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The Spectrum of Cutaneous Manifestations in Lupus Erythematosus: A Comprehensive Review

Journal of Clinical Medicine, Год журнала: 2024, Номер 13(8), С. 2419 - 2419

Опубликована: Апрель 21, 2024

Lupus erythematosus (LE) is an autoimmune inflammatory disease with complex etiology. LE may present as a systemic disorder affecting multiple organs or be limited solely to the skin. Cutaneous (CLE) manifests wide range of skin lesions divided into acute, subacute and chronic subtypes. Despite classic forms CLE, such malar rash discoid LE, little-known variants occur, for instance hypertrophic chilblain lupus panniculitis. There are also numerous non-specific manifestations including vascular abnormalities, alopecia, pigmentation nail abnormalities rheumatoid nodules. Particular cutaneous correlate activity thus have great diagnostic value. However, diversity clinical picture resemblance certain entities delay making accurate diagnosis The aim this review discuss variety indicate features particular CLE types which facilitate differential other dermatoses. Although in diagnostically difficult cases histopathological examination plays key role quick ensures adequate therapy implementation high quality life patients. Cooperation between physicians various specialties therefore crucial management patients uncommon photosensitive lesions.

Язык: Английский

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Tumor Necrosis Factor-Alpha: Ally and Enemy in Protean Cutaneous Sceneries

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(14), С. 7762 - 7762

Опубликована: Июль 16, 2024

Skin is the forestage for a series of many-sided functions tumor necrosis factor-alpha (TNF-α), proinflammatory cytokine with staggering versatility and sizable implications tissue homeostasis, immune responses, angiogenesis, apoptosis, local systemic inflammation. An aberrant TNF-α-mediated crosstalk has been linked to pathogenesis acute chronic skin inflammatory diseases, indeed, TNF-α dysregulation can contribute development progression psoriasis, vitiligo, damage following exposition ultraviolet light radiations, cutaneous lupus erythematosus, acne vulgaris. Therapies that target are conspicuously used in treatment different disorders, aiming modulate vivo triggered by many cells, including keratinocytes, mast or Langerhans reduce inflammation taking place within skin. Herein, we focus on key relationships between distinct non-neoplastic physiologic conditions, showing natural induction may have protective significance but overproduction be harmful even lethal. Many questions remain unraveled therapeutic practice, caution should exercised due eventual backlashes exerted maintaining health provoking disease.

Язык: Английский

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The Steroid Veil: Complications in Identifying Lupus

Cureus, Год журнала: 2025, Номер unknown

Опубликована: Янв. 3, 2025

While topical steroids are an invaluable tool used for the treatment of pruritic rashes, they can also complicate attempts at a definitive diagnosis. The temporal association between steroid use and biopsy must be taken into account when investigating underlying etiology such rashes. In patients with history dermatologic disease onset new rash, management should include biopsy, if deemed necessary diagnosis, followed by prescription symptomatic treatment. A 63-year-old male psoriasis presented new-onset pruritic, erythematous-to-violaceous rash on sun-exposed areas. final diagnosis subacute cutaneous lupus erythematosus (SCLE) was delayed due to eruptions before presentation in clinic biopsy. Diagnosis SCLE difficult, especially primary care providers who do not see initial regularly, as findings variable presentation. However, recurrent similar photo-distributed locations alert potential prompt referral evaluation suggested. Thorough personal family photographs documented patient's chart future reference. Ultimately, is gold standard diagnostic method evaluating rash. When there suspicion beyond idiopathic contact or irritant dermatitis, considered next best step management.

Язык: Английский

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Solitary verrucous plaque on the chin: hypertrophic discoid lupus erythematosus⋆

Anais Brasileiros de Dermatologia, Год журнала: 2025, Номер unknown

Опубликована: Янв. 1, 2025

Язык: Английский

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Cutaneous lupus erythematosus presenting as a nonhealing ulcer in an African American woman: A case report

American Journal of Clinical Pathology, Год журнала: 2025, Номер unknown

Опубликована: Март 12, 2025

Abstract Objective Cutaneous lupus erythematosus (CLE) is a chronic autoimmune disorder of the skin. Methods In this report, we describe case an African American woman with CLE who had ulcer on her posterior thigh. Despite this, initial biopsy specimen lesion revealed no evidence until repeat 5 months later. Conclusions This underscores importance considering in patients ulcers resistant to therapy and demonstrates value performing re-biopsy when results do not explain clinical presentation.

Язык: Английский

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Skin and beyond: Demographics, clinical features and systemic involvement of cutaneous lupus erythematosus in Pakistani population

Lupus, Год журнала: 2025, Номер unknown

Опубликована: Март 28, 2025

Background Lupus erythematosus (LE) is an autoimmune disease with skin being the most important organ involved and presents as LE specific nonspecific lesions. Objective To determine clinical demographics, systemic involvement impact on daily lives of patients cutaneous lupus (CLE). Methodology A cross sectional study a total 135 who presented symptoms were enrolled. Informed consent was taken. Detailed History, examination, features, laboratory radiograph investigations conducted to assess internal organs. Results Of patients, 73.3% female 26.7% male. Mean age 28.1 years duration CLE 8.4 months. 56.3% belonged rural area. Isolated Chronic (CCLE) observed in 35.5%, CCLE overlap Acute (ACLE) 30.3% ACLE 33.3%. Only two had Sub acute (SCLE). In lesions, limited generalized discoid rash noted 33.3% 17.7% respectively. 46.6% Malar rash. Oral nasal ulcers 51.1 %. Non scarring alopecia seen 53.3% patients. Scarring 35.5%. 34% Raynaud’s phenomenon, 23.7% Periungual telangiectasia, 14.8% Vasculitis. involvement, joint 49 (36.3%), renal 48 (35.6%), haematological 42 (31.1%), serositis, 23 (17%) neurological 14 (10.4%). No difference sexes observed. ANA positivity 61 (45.1%), whom females. (56.5%) Anti DSDNA positive (31.1%) which 40 women. DLQI 11.01 ± 8.2. 45 no or slight effect their lives. 22.9%, 27.4% 16.3% moderate, large very effects lifestyle. Conclusion The characteristics similar other studies, but higher this study, while Serositis less prevalent. Localized did not show extra showed significant life.

Язык: Английский

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HISTOPATHOLOGYC AND DERMOSCOPIC FINDINGS OF SUBACUTE CUTANEOUS LUPUS ERYTHEMATOSUS

BULLETIN OF STOMATOLOGY AND MAXILLOFACIAL SURGERY, Год журнала: 2025, Номер unknown, С. 313 - 318

Опубликована: Март 20, 2025

The relevance, pathogenesis, classification, and clinical characteristics of a rare disease-subacute cutaneous lupus erythematosus-are presented. A case in 60-year-old woman without signs organ pathology is also described. dermatoscopic examination was performed. In the affected areas on facial skin, twisted, short linear, occasionally branching, unfocused vessels, predominantly bright red color, forming incomplete polygonal structures, were identified. skin extremities, irregularly arranged dotted-granular twisted linear vessels dull color visualized, along with structureless zones varying degrees discoloration, exhibiting whitish-orange shades. Pathomorphologically, process characterized by mild focal hyperkeratosis, vacuolar degeneration basal layer epidermis, mildly expressed perivascular lymphohistiocytic inflammatory infiltrate, as well moderately periadnexal (perieccrine) infiltrate.Based medical history, presentation, results dermoscopic histological examinations, diagnosis psoriasiform subacute erythematosus established.

Язык: Английский

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