Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.

Background: Cryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). MWS is caused by dominantly inherited or de novo gain-of-function mutations in the NOD-like receptor 3 (NLRP3) gene. At present, there is no report about the variation of R262W in China.

Successful Treatment of Minocycline-Induced Facial Hyperpigmentation with a Combination of Chemical Peels and Intense Pulsed Light.

Minocycline is a tetracycline derivative antibiotic commonly used to treat acne, rosacea, and other inflammatory skin conditions. Taking minocycline risks inducing skin pigmentation. If minocycline-induced hyperpigmentation is not treated, it may take months to years for the symptoms to subside after discontinuation of the drug, or the hyperpigmentation may never disappear completely, which can lead to cosmetic anxiety and affect people's quality of life.

Spectrum of auto-inflammatory diseases in Morocco: a monocentric experience.

Objective: Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs.

Methods: Patient data were collected retrospectively and analysed over a 13-year period.

Lower leg blood pressure decreases while calf external pressure increases with the angulation of the Trendelenburg position in the lithotomy position with calf- and foot-supported leg holders.

Patients who underwent lower abdominopelvic surgeries in the lithotomy position (LP) and the Trendelenburg position (TP) with the leg holder are at risk of developing well leg compartment syndrome (WLCS). However, contributing factors related to the LP with TP associated with WLCS are unknown. This study aimed to investigate the associations between external pressure at the calf in the LPs at different angulations of the TP and physiological characteristics.

Wells' syndrome possibly caused by hematologic malignancy, influenza vaccination or ibrutinib: A case report.

Background: Wells' syndrome (eosinophilic cellulitis) is an uncommon eosinophilic dermatosis of uncertain pathogenesis, characterized by clinical polymorphism and suggestive but nonspecific histopathologic traits. Its course is recurrent, and response to therapy is unpredictable. In a case in which the patient has a number of potential triggers for the manifestation of Wells' syndrome skin rash, the treating physician must decide or must make an assumption in order to establish the most likely clinical scenario.

In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation.

Objective: To report our five-years experience on the use of NLRP3 inflammasome functional assays in the differential diagnosis of Brazilian patients with a clinical suspicion of CAPS.

Patients And Methods: The study included 9 patients belonging to 2 families (I, II) and 7 unrelated patients with a clinical suspicion of AID according to Eurofever/PRINTO classification, recruited between 2017 and 2022. The control group for the NLRP3 functional assay consisted of 10 healthy donors and for the CBA cytokines measurement of 19 healthy controls.

Equally potent: Nlrp3 mutation in macrophages or neutrophils is sufficient to drive autoinflammation.

Gain-of-function mutation in NLRP3 is associated with a spectrum of autoinflammatory disorders including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal onset multisystem inflammatory disease, collectively known as cryopyrin-associated periodic syndrome (CAPS). However, the cell types mediating the pathogenesis of CAPS are not completely understood. Two studies in EMBO Reports now demonstrate that gain-of-function Nlrp3 mutation in either macrophages or neutrophils alone is sufficient to trigger systemic autoinflammation and lethality in mice.

Reactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.

Background: Patients with inborn errors of immunity (IEI) are at increased risk for severe courses of SARS-CoV-2 infection. COVID-19 vaccination provides effective protection in healthy individuals. However, it remains unclear whether vaccination is efficient and safe in patients with constitutional dysfunctions of the immune system.

Real-world safety and effectiveness of canakinumab in patients with cryopyrin-associated periodic fever syndrome: a long-term observational study in Japan.

Objectives: A post-marketing all-patient surveillance program was conducted to evaluate the safety and effectiveness of canakinumab, a monoclonal anti-interleukin-1β antibody, in patients in Japan with cryopyrin-associated periodic fever syndrome (CAPS), including familial cold auto-inflammatory syndrome, Muckle-Wells syndrome, and neonatal onset multisystem inflammatory disease.

Methods: All patients with CAPS who received canakinumab treatment after drug approval in Japan were registered in this non-interventional, observational study. The observation period per patient was two years.

Systemic autoinflammatory diseases in pediatric population.

Background: Systemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.

Objective: We aimed to characterize the clinical features of patients with SAID.

Methods: This study was a retrospective chart review on the clinical and genetic features of the pediatric population with SAID observed from 1998 to 2020 in our center.

Protracted febrile myalgia as a first and challenging manifestation of familial Mediterranean fever.

Objectives: Familial Mediterranean fever (FMF) is an auto-inflammatory disease that causes recurrent episodes of fever, abdominal pain, chest pain, and arthritis. Although FMF is well known, protracted febrile myalgia syndrome (PFMS) is a clinical condition that is rare and difficult to diagnose than other symptoms of FMF. PFMS causes fever, myalgia, and acute phase reactant elevation that lasts 2-4 weeks if corticosteroid treatment is not given.

An orange peel-like nodule on the back: A case of Wells syndrome.

Wells syndrome is a rare eosinophilic syndrome, associating inflammatory lesions, suggestive histological images and frequent eosinophilia. Wells syndrome is characterized by multiplicity of anatomoclinical forms. Clinically, lesions may be urticarial, annular, papulonodular, papulovesicular or bullous.

Wells Syndrome Presenting as Atypical Periorbital Cellulitis.

A 62-year-old man presented with diffuse, painless, left-sided preseptal edema, erythema, and woody induration extending to the left temple. The induration generated an orbital compartment syndrome with markedly elevated intraocular pressure necessitating lateral canthotomy and cantholysis. Although atypical for an infectious etiology, empiric broad-spectrum intravenous antibiotics were initiated with no improvement.

Unusual manifestations of adrenal insufficiency: A case report of hypopituitarism and Well's syndrome after apoplexy of a silent pituitary gonadotropic adenoma.

Rationale: Pituitary apoplexy occurs in about 8% of those with nonfunctioning pituitary adenoma. Subsequent hormone deficiency, especially corticotropic deficiency, is the most common finding. We describe the unusual manifestations of adrenal insufficiency that are usually overlooked in such cases, with the aim of raising awareness of this disease.

Eosinophilic cellulitis in response to BNT162b2 COVID-19 vaccination.

A 12-year-old boy presented with a 2-week history of persistent pruritic edematous plaques one day after he received the first dose of the BNT162b2 COVID-19 mRNA vaccine. A skin biopsy showed urticarial dermatitis with tissue eosinophilia consistent with a diagnosis of vaccine-associated eosinophilic cellulitis, with polyethylene glycol as a potential trigger.

A Case of Well Leg Compartment Syndrome After Robot-assisted Laparoscopic Prostatectomy:With Review.

Robot-assisted laparoscopic prostatectomy (RALP) for prostate cancer was introduced in 2000 and rapidly gained popularity. The Da Vinci Surgical System? can ensure improved local control of cancer and fewer perioperative complications. However, RALP is performed in the steep-Trendelenburg position (a combination of lithotomy and head-down tilt position/Lloyd-Davies position) to obtain a good surgical view, and as a result, well leg compartment syndrome (WLCS) can become a serious complication of RALP.

Urticarial vasculitis: Clinical and laboratory findings with a particular emphasis on differential diagnosis.

Urticarial vasculitis (UV) is a rare cutaneous vasculitis of small vessels characterized by recurrent episodes of wheal-like lesions that tend to last more than 24 hours, healing with a residual ecchymotic postinflammatory hyperpigmentation. The histopathologic pattern of UV is that of leukocytoclastic vasculitis, consisting of fibrinoid necrosis of dermal vessels' walls and neutrophil-rich perivascular inflammatory infiltrates. Although its etiopahogenesis remains still undefined, UV is now regarded as an immune complex-driven disease with activation of the complement cascade, leading to exaggerated production of anaphylatoxins that are responsible for neutrophil recruitment and activation.

Eosinophilic Annular Erythema: A New Entity of Eosinophilic Dermatosis.

Eosinophilic annular erythema (EAE) is a rare dermatosis. Its relationship with Wells syndrome (WS) is debated. We report a case treated with hydroxychloroquine.

Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation.

There have been hundreds of reports on mutations in the NLRP3 gene related to NLRP3-associated autoinflammatory disease, but few of these mutations have occurred as both germline and somatic mosaic mutations. In this case-based review, we report a 68-year-old man with an NLRP3-associated autoinflammatory disease. He developed secondary amyloidosis, including a renal and colorectal presentation in his 50 s.