Birt-Hogg-Dubé syndrome, an extremely rare genetic disorder, is characterized by the development of fibrofolliculomas, lung cysts and subsequent recurrent pneumothorax, and kidney neoplasia. This report highlights the case of a 56-year-old female with a history of right vestibular schwannoma status post stereotactic radiotherapy and vulva bartholin\'s gland carcinoma who was initially evaluated by primary care for a 6-month history of intermittent, red, raised, widespread rash accompanied by fever, chills, and body aches. A punch biopsy of the rash was performed, which was notable for an urticarial tissue reaction with focal changes of leukocytoclasia and negative direct immunofluorescence. Laboratory tests, which included an autoimmune genetic and periodic fever panel, were unremarkable. Whole genome sequencing returned positive for a pathogenic variant in folliculin gene, consistent with a diagnosis of Birt-Hogg-Dubé syndrome.

Urticarial vasculitis (UV) is a type of small-vessel vasculitis, which is rarely associated with anti-tumor necrosis factor (TNF)-alpha medication. We describe a 72-year-old woman with multiple comorbidities on several medications, including an adalimumab biosimilar for Hurley stage II recalcitrant hidradenitis suppurativa (HS), who presented with new-onset severe angioedema and a rash with urticarial wheals that covered most of her body surface area. The diagnosis of drug-induced UV is supported by both the history of adalimumab biosimilar use and the histopathology result. The patient responded successfully to a course of doxycycline administered for three months, which was preceded by corticosteroid dosages, both orally and intravenously, to reduce inflammation. The given case highlights the correlation between a distinct dermatologic autoimmune manifestation and TNF-targeted therapy, demonstrating the importance for dermatologists to be aware of the potential side effects of adalimumab biosimilars in order to manage them effectively.

暂无摘要。

BACKGROUND: Urticarial vasculitis (UV) should be differentiated from chronic spontaneous urticaria (CSU) in patients initially presenting with recurrent wheals, although criteria for differential diagnosis remain ill-defined.
OBJECTIVE: To set the goals, define criteria and unmet needs in UV diagnosis and differential diagnosis with CSU, and explore the possibility of coexistence of both diseases.
METHODS: Thirteen experts experienced in UV research participated in a Delphi survey of European Academy of Allergy and Clinical Immunology taskforce. This Delphi survey involved three rounds of anonymous responses to n = 32 questions with the aim to aggregate the experts\' opinions and to achieve consensus. Urticaria specialists (n = 130, most from Urticaria Centers of Reference and Excellence) evaluated the consensus statements and recommendations in the fourth and final round.
RESULTS: The panel agreed that essential criteria to guide a skin biopsy in patients with recurrent wheals should include at least one of the following features: wheal duration >24 h, bruising/postinflammatory hyperpigmentation, and systemic symptoms. Leukocytoclasia and fibrin deposits were identified as a minimum set of UV histological criteria. As agreed by the panel members, CSU and normocomplementemic UV (NUV) may coexist in some patients.
CONCLUSIONS: The use of established criteria for the diagnosis and differential diagnosis of UV in patients with recurrent wheals can help guide the diagnostic approach and prompt earlier treatment. Further studies should investigate whether CSU and NUV are different entities or part of a disease spectrum.

暂无摘要。

UNASSIGNED: Hypocomplementemic urticarial vasculitis syndrome (HUVS) is an infrequent immune complex-mediated condition characterized by nonpruritic urticarial lesions, low serum complement levels, and autoantibodies, associated with systemic manifestations like arthralgia/arthritis, angioedema, ocular inflammation with conjunctivitis, episcleritis, uveitis, renal, gastrointestinal, and pulmonary involvement. HUVS and systemic lupus erythematosus (SLE) overlap and the criteria for identifying HUVS as an entity distinct from SLE are lacking. Despite the diagnostic criteria established by Schwartz et al. [Curr Opin Rheumatol. 2014;26(5):502-9], differentiation from SLE is sometimes difficult as patients often also fulfill the classification criteria of the American College of Rheumatology (ACR). The prognosis of HUVS depends on the organ system involved. Lung disease results in significant morbidity and mortality and is made worse by smoking. Kidney involvement with glomerulonephritis may ultimately result in end-stage renal disease with the need for kidney transplant. Death may also occur due to acute laryngeal edema.
UNASSIGNED: We pre-sent a case of a 40-year-old female who had a diagnosis of SLE, presented with severe odynophagia, was found to have an erythematous macular rash, and had acute kidney injury attributed to contrast-related injury and cardiorenal syndrome. After the resolution of the AKI, she continued to have hematuria and low-grade proteinuria that led to a kidney biopsy that aided in the diagnosis of HUVS.
UNASSIGNED: Given the rarity of this disease and the difficulty in differentiating HUVS from other rheumatological diseases such as SLE, further accumulation of cases is necessary to understand the best diagnostic modality for this entity.

Chronic urticarial rash, mostly due to chronic spontaneous urticaria (CSU), is seen in up to 1 - 4% of the general population. Urticarial vasculitis (UV) and autoinflammatory syndromes, i.e., cryopyrin-associated periodic syndromes (CAPS) and Schnitzler syndrome (SchS), can mimic CSU-like rash but represent rare disorders with systemic symptoms including fever, headache, conjunctivitis, and arthralgia. Clinical and laboratory features can point to the presence of any of these diseases in patients initially presenting with chronic urticarial rash. These include long-lasting wheals (> 24 hours), lesional burning, systemic symptoms, and/or increase in inflammatory markers (e.g., C-reactive protein, serum amyloid A, and/or S100A8/9). Lesional skin biopsy usually demonstrates leukocytoclastic vasculitis (UV) or neutrophil-rich infiltrate (CAPS and SchS). In contrast to CSU, where second-generation H1 antihistamines and omalizumab allow to control symptoms in most patients, systemic immunosuppression and anti-interleukin (IL)-1 therapies are needed in case of UV and autoinflammatory diseases, respectively. The rarity and low awareness of CSU differential diagnoses may be related to the longer delays in diagnosis and therapy in those affected with UV, CAPS, and SchS. Knowledge of the differential diagnoses of CSU is important because only correct diagnosis allows adequate therapy. Complications such as the development of lymphoproliferative disease in SchS and amyloidosis in CAPS, and the presence of comorbid diseases, such as systemic lupus erythematosus in UV, must be considered and monitored.

Cutaneous vasculitis (CV) is an inflammatory skin-limited vascular disease affecting the dermal and/or hypodermal vessel wall. From the pathogenetic point of view, idiopathic forms are described as well as the induction from various triggers, such as drugs, infections, and vaccines. Following SARS-CoV-2 pandemic outbreak, cases of CV induced by both COVID-19 and COVID-19 vaccinations have been reported in literature. The aim of our work was to collect multiple cases available in the literature and analyze the frequency of the different forms of induced vasculitis, as well as their histological and immunopathological features. Although rare, CV induced by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) and vaccines may provide interesting insights into the pathogenesis of these inflammatory processes that may in the future be useful to understand the mechanisms underlying cutaneous and systemic vasculitis.

暂无摘要。

Urticarial vasculitis (UV) is a small-vessel leukocytoclastic vasculitis characterized by different clinical manifestations ranging from long-lasting urticarial lesions to severe and potentially life-threatening multi-organ involvement. Omalizumab (OMA), anti-IgE recombinant humanized IgG1 monoclonal antibody, has been successfully used to treat few cases of severe and/or refractory UV. In this study we report our experience on 6 patients with refractory normocomplementemic UV successfully treated with anti-IgE therapy (OMA), suggesting that this biological therapy may be a safe and effective therapeutic option in UV.