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    Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.
    J Craniofac Surg 2017 Feb 22. Epub 2017 Feb 22.
    *Department of Oral and Maxillofacial Plastic and Traumatic Surgery, School of Stomatology, Capital Medical University †China Zhongyuan Engineering Corp, Beijing, China.
    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is an autosomal genetic disease with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate. The authors report a patient with 17 months old girl with AEC syndrome having ankyloblepharon, cleft and palate, and ectrodactyly with some associated features. Etiology, clinical features, differential diagnosis, and treatment have been elaborated in this clinical report. Read More

    A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.
    Chin Med J (Engl) 2017 5th Mar;130(5):586-593
    Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.
    Background: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3. Read More

    Human NLRP3 inflammasome activity is regulated by and potentially targetable via BTK.
    J Allergy Clin Immunol 2017 Feb 16. Epub 2017 Feb 16.
    Interfaculty Institute for Cell Biology, Department of Immunology, University of Tübingen, Auf der Morgenstelle 15, 72076 Tübingen, Germany. Electronic address:
    Background: The Nod-like receptor, NACHT, LRR and PYD domains-containing protein 3 (NLRP3), and Bruton's tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively: NLRP3 senses exogenous and endogenous insults leading to inflammasome activation, which occurs spontaneously in Muckle-Wells Syndrome (MWS); BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified and clinically promising pharmacological targeting strategies remain elusive.

    Objective: We therefore sought to identify novel regulators of the NLRP3 inflammasome in human cells with a view to exploring interference with inflammasome activity at the level of such regulators. Read More

    [Genetics of cryopyrin-associated periodic syndrome].
    Z Rheumatol 2017 Feb 14. Epub 2017 Feb 14.
    , Hohentwielstr. 32, 78250, Tengen, Deutschland.
    Familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurological, cutaneous and articular syndrome/neonatal onset multisystem inflammatory disease (CINCA/NOMID) were originally described as three distinct diseases. After the identification of their common genetic origin in 2001 and 2002, they are now perceived as a continuum of one disease entity and labelled cryopyrin-associated periodic syndromes (CAPS). Mutations in the NLRP3 gene on chromosome 1q44 can be detected in many affected patients. Read More

    Disorders characterized by predominant or exclusive dermal inflammation.
    Semin Diagn Pathol 2016 Dec 14. Epub 2016 Dec 14.
    Section of Dermatopathology, Division of Surgical Pathology & Cytopathology, University of Virginia Medical Center, Room 3020 University of Virginia Hospital, 1215 Lee Street, Charlottesville, VA 22908-0214, USA. Electronic address:
    Some cutaneous inflammatory disorders are typified by a predominant or exclusive localization in the dermis. They can be further subdivided by the principal cell types into lymphocytic, neutrophilic, and eosinophilic infiltrates, and mixtures of them are also seen in a proportion of cases. This review considers such conditions. Read More

    Muckle-Wells syndrome in Chinese patients: a single center case series.
    Clin Rheumatol 2016 Dec 27. Epub 2016 Dec 27.
    Peking Union Medical College Hospital, Beijing, 100730, China.
    Muckle-Wells syndrome (MWS) is a rare autoinflammatory disease. This study aimed to report the clinical features and gene variations of the first case series of MWS patients in Chinese population. Four Han Chinese patients were diagnosed with MWS and followed up at our adult clinic for autoinflammatory diseases. Read More

    An NLRP3 Mutation Causes Arthropathy and Osteoporosis in Humanized Mice.
    Cell Rep 2016 Dec;17(11):3077-3088
    Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address:
    The NLRP3 inflammasome plays a critical role in host defense by facilitating caspase I activation and maturation of IL-1β and IL-18, whereas dysregulation of inflammasome activity results in autoinflammatory disease. Factors regulating human NLRP3 activity that contribute to the phenotypic heterogeneity of NLRP3-related diseases have largely been inferred from the study of Nlrp3 mutant mice. By generating a mouse line in which the NLRP3 locus is humanized by syntenic replacement, we show the functioning of the human NLRP3 proteins in vivo, demonstrating the ability of the human inflammasome to orchestrate immune reactions in response to innate stimuli. Read More

    NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.
    Neural Plast 2016 14;2016:3018132. Epub 2016 Nov 14.
    Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China; Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
    Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. In this study, we performed comprehensive genetic screening in a dominant family in which the proband was initially diagnosed with nonsyndromic deafness. Read More

    [Wells syndrome mimicking facial cellulitis: Three cases].
    Ann Dermatol Venereol 2016 Nov 10. Epub 2016 Nov 10.
    Service de dermatologie, centre hospitalier de Saint-Brieuc, 10, rue Marcel-Proust, 22000 Saint-Brieuc, France. Electronic address:
    Background: Wells syndrome, or eosinophilic cellulitis, is an uncommon inflammatory dermatosis of unknown etiology that is characterized by clinical features of pruritic cellulitis-like plaques on the extremities and a histological picture of eosinophilic infiltrate of the dermis with "flame figures".

    Patients And Methods: Herein, we report three cases of idiopathic Wells syndrome masquerading as bacterial facial cellulitis. Under treatment with oral prednisone and/or combined therapy with levocetirizine and hydroxyzine, all patients showed a dramatic improvement of their skin lesions. Read More

    Wells syndrome.
    J Dtsch Dermatol Ges 2016 Oct;14(10):989-993
    Department of Dermatology and Allergology, University Hospital Ulm, Ulm, Germany.
    A rare eosinophilic dermatosis, Wells syndrome, also referred to as eosinophilic cellulitis, is characterized by great clinical variability. Typical findings include infiltrated erythematous plaques arising on the extremities. Lesions initially resemble erysipelas/cellulitis, however, they do not improve with antibiotic treatment. Read More

    Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.
    J Paediatr Child Health 2016 Sep;52(9):889-95
    School of Maternal and Child Health, The University of New South Wales, Sydney, New South Wales, Australia.
    Aim: Cryopyrin-associated periodic syndromes (CAPS) encapsulate three auto-inflammatory conditions, ranging in severity from mild (familial cold auto-inflammatory syndrome: FCAS), moderate (Muckle-Wells syndrome: MWS) and severe (neonatal onset multi-inflammatory disorder: NOMID). We aimed to describe the epidemiology, clinical features and outcomes of Australian children and adults with CAPS.

    Methods: Patients were identified and clinical data collected through a questionnaire sent during 2012-2013 to clinicians reporting to the Australian Paediatric Surveillance Unit and subscribing to the Australasian Societies for Allergy/Immunology, Rheumatology and Dermatology. Read More

    Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.
    Pediatr Dermatol 2016 Sep 19;33(5):e311-4. Epub 2016 Jul 19.
    Department of Dermatology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
    Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. MWS is characterized by a moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, and potentially life-threatening amyloidosis. Read More

    Treatment of eosinophilic cellulitis (Wells syndrome) - a systematic review.
    J Eur Acad Dermatol Venereol 2016 Sep 29;30(9):1465-79. Epub 2016 Jun 29.
    Klinik für Hautkrankheiten, Universitätsklinikum, Jena, Deutschland.
    Eosinophilic cellulitis (Wells syndrome) is a rare inflammatory skin disease defined by erythematous, tender, sometimes urticarial plaques, possibly with vesicles and bullae, and granulomatous eosinophilic infiltrates in the dermis. Usually the disease has a benign course with spontaneous remission within a few weeks. Nevertheless, recurrences are quite frequent and may occur for several years. Read More

    Guidelines for the management and treatment of periodic fever syndromes: Cryopyrin-associated periodic syndromes (cryopyrinopathies - CAPS).
    Rev Bras Reumatol Engl Ed 2016 Jan-Feb;56(1):44-51. Epub 2015 Oct 20.
    Pediatric Rheumatology Unit, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista (Unesp), Botucatu, SP, Brazil.
    Objective: To establish guidelines based on cientific evidences for the management of cryopyrin associated periodic syndromes.

    Description Of The Evidence Collection Method: The Guideline was prepared from 4 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. Read More

    Clinical categories of exaggerated skin reactions to mosquito bites and their pathophysiology.
    J Dermatol Sci 2016 Jun 30;82(3):145-52. Epub 2016 Apr 30.
    Department of Dermatology, Hamamatsu University School of Medicine, 1-20-1Handayama, Higashi-ku, Hamamatsu 431-3192, Japan.
    Mosquito bites are skin irritating reactions, which usually resolve spontaneously without intensive medical care. However, in certain situations, mosquito bites may form a more vicious reaction, sometimes accompanying fever and systemic symptoms. In such cases, the presence of rare hematological disorders, abnormalities in eosinophils and/or association with Epstein-Barr virus (EBV) may underlie. Read More

    A rare variant of ankyloblepharon filiforme adnatum associated with skin hypopigmentation: A case report from South India.
    Indian J Ophthalmol 2016 Mar;64(3):241-3
    Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia.
    We report ankyloblepharon filiforme adnatum (AFA) along with associated skin lesions in a 7-day-old child from South India. It could be a variant of the well described ankyloblepharon-ectodermal defects-cleft lip and palate syndrome also called Hay-Wells syndrome wherein AFA, skin lesions, and clefting are characteristic. The ocular features, genetic inheritance, and possible systemic associations, along with the options for management, are discussed. Read More

    NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.
    J Rheumatol 2016 Jun 1;43(6):1101-6. Epub 2016 May 1.
    From the Center for Ophthalmology, and the Division of Pediatric Rheumatology, Department of Pediatrics, Eberhard-Karls University Tuebingen, Tuebingen, Germany.B. Sobolewska, MD, Center for Ophthalmology, Eberhard-Karls University Tuebingen; E. Angermair, MD, Center for Ophthalmology, Eberhard-Karls University Tuebingen; C. Deuter, MD, Center for Ophthalmology, Eberhard-Karls University Tuebingen; D. Doycheva, MD, Center for Ophthalmology, Eberhard-Karls University Tuebingen; J. Kuemmerle-Deschner, MD, Division of Pediatric Rheumatology, Department of Pediatrics, Eberhard-Karls University Tuebingen; M. Zierhut, MD, PhD, Center for Ophthalmology, Eberhard-Karls University Tuebingen. Dr. Kuemmerle-Deschner and Dr. Zierhut contributed equally to this report and should be considered as co-senior authors.
    Objective: Cryopyrin-associated periodic syndrome (CAPS) is a group of inherited autoinflammatory disorders caused by mutations in the NLRP3 gene resulting in the overproduction of interleukin 1β. NLRP3 mutations cause a broad clinical phenotype of CAPS. The aims of the study were to evaluate clinical, laboratory, and genetic features of a 5-generation family with CAPS focusing in detail on ocular symptoms. Read More

    Wells' syndrome with a clinicopathological correlation associated with mantle-cell lymphoma.
    Leuk Lymphoma 2016 Nov 21;57(11):2702-4. Epub 2016 Mar 21.
    a Second Department of Internal Medicine, 'ATTIKON' General University Hospital, Medical School , University of Athens , Greece ;

    [Hay-Wells syndrome: A case report].
    Arch Pediatr 2016 Feb 24;23(2):163-6. Epub 2015 Dec 24.
    Service de stomatologie et chirurgie maxillo-faciale, hôpital militaire d'instruction Mohammed-V, 10100 Rabat, Maroc.
    Hay-Wells syndrome is a rare form of ectodermal dysplasia. We report a case of a 5-year-old girl, the daughter of non-consanguineous parents. She had the characteristic of facial dysmorphia of Hay-Wells syndrome. Read More

    Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome.
    Rheumatology (Oxford) 2016 Apr 14;55(4):689-96. Epub 2015 Dec 14.
    Division of Pediatric Rheumatology, Department of Pediatrics, University Children's Hospital Tuebingen, and Rheumatology, Alberta Children's Hospital, University of Calgary, Alberta, Canada.
    Objective: Cryopyrin-associated periodic syndrome (CAPS) is a heterogeneous group of diseases characterized by excessive IL-1β release resulting in severe systemic and organ inflammation. Canakinumab targets IL-1β and is approved at standard dose for children and adults with all CAPS phenotypes. Limited data are available for the real-life effectiveness of canakinumab in patients living with CAPS. Read More

    [Eosinophilic cellulitis: About a new pediatric case].
    Ann Pathol 2015 Dec 14;35(6):486-8. Epub 2015 Nov 14.
    Laboratoire d'anatomie et de cytologie pathologiques, hôpital universitaire Habib Bourguiba, 3029 Sfax, Tunisie.
    Wells' syndrome or "eosinophilic cellulitis" is characterized by clinical features of cellulitis and histological pictures of eosinophils infiltrate of the dermis with some « flame » figures. This is a very rare disease in the pediatric age. We report the case of a 14-month-old boy, presented with two farms painful nodular brownish lesions in the thigh and back of the foot as well as multiple erythematous papular and vesicular lesions on the forehead, cheeks, limbs and trunk. Read More

    Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
    Pediatr Rheumatol Online J 2015 Nov 4;13(1):43. Epub 2015 Nov 4.
    Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Hoppe-Seyler-Str. 1, D-72076, Tuebingen, Germany.
    Background: Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. Read More

    Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.
    Fetal Pediatr Pathol 2015 16;34(6):400-6. Epub 2015 Oct 16.
    c Sackler Faculty of Medicine, Tel-Aviv University , Tel-Aviv , Israel.
    Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish descent, in which the index patient presented with a persistent scalp skin lesion, dystrophic nails and light thin hair. Further evaluation revealed over 10 affected individuals in the kindred, over four generations, exhibiting varying degrees of ectodermal involvement. Read More

    Wells syndrome associated with chronic lymphocytic leukemia.
    An Bras Dermatol 2015 Jul-Aug;90(4):571-4
    Universidade Federal de Minas Gerais, Belo Horizonte, MG, BR.
    Eosinophilic cellulitis or Wells syndrome is an uncommon skin condition of unknown etiology that can occur alone or associated with other conditions. Typically, it presents with recurrent pruritic, erythematous and edematous plaques, but it can also show clinical polymorphism. Besides the cutaneous lesions, patients can experience systemic manifestations like fever, malaise, arthralgia and peripheral blood eosinophilia. Read More

    Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome.
    Expert Rev Clin Immunol 2015 27;11(10):1083-92. Epub 2015 Aug 27.
    a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre Cedex, France.
    Cryopyrin-associated periodic syndrome (CAPS) encompasses a spectrum of three phenotypes of increasing severity. The syndrome is due to dominant mutations in NLRP3, which encodes a key component of the innate immunity that regulates the secretion of IL-1β. CAPS manifests as systemic inflammation, which compromises quality of life and leads to serious complications and handicap. Read More

    Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
    Autoimmun Rev 2016 Jan 21;15(1):9-15. Epub 2015 Aug 21.
    Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Working Group of Adult Rare Diseases, Hospital Clínic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain.
    Introduction: Autoinflammatory diseases (AID) are usually diagnosed during the pediatric age. However, adult-onset disease or diagnosis during adulthood has been occasionally described.

    Objectives: To assess the clinical and genetic characteristics of adult patients diagnosed with an AID in an adult referral center for AID. Read More

    Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.
    Arthritis Rheumatol 2015 Nov;67(11):3027-36
    La Cavale Blanche University Hospital, Brest and EA2216 Brittany University (UBO), Brest, France.
    Objective: To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS).

    Methods: We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test. Read More

    Impact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes.
    Mod Rheumatol 2016 3;26(1):3-8. Epub 2015 Aug 3.
    b Rheumatology Division, New York Methodist Hospital, Associate Professor of Clinical Medicine and Rheumatology, Weill Cornell Medical College , New York , NY , USA.
    Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome or FCAS, Muckle-wells syndrome or MWS, and neonatal-onset multisystem inflammatory disease or NOMID. CAPS is caused by a mutation in the NOD-like receptor family, pyrin domain containing 3 (NLRP3) gene. This ultimately leads to increased production of interleukin (IL)-1β. Read More

    Wells' Syndrome Mimicking Facial Cellulitis: A Report of Two Cases.
    Case Rep Dermatol 2015 May-Aug;7(2):117-22. Epub 2015 Jun 9.
    Department of Dermatology, Centre Hospitalier de Saint-Brieuc, Saint-Brieuc, Armor Pathology Laboratory, Plérin, France.
    Wells' syndrome (WS), or eosinophilic cellulitis, is an uncommon inflammatory dermatosis of unknown etiology that typically presents with pruritic cellulitis-like plaques on the extremities. Therefore, WS is often misdiagnosed as bacterial cellulitis due to its similarity in presentation. Here, we report two cases of WS that masqueraded as bacterial facial cellulitis. Read More

    Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
    Expert Rev Clin Immunol 2015 15;11(7):827-35. Epub 2015 May 15.
    Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU, Montpellier, France.
    Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Read More

    CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.
    Semin Immunopathol 2015 Jul 12;37(4):377-85. Epub 2015 May 12.
    Division of Pediatric Rheumatology, Department of Pediatrics, University Children's Hospital Tuebingen, Hoppe-Seyler-Strasse 1, 72076, Tuebingen, Germany,
    The cryopyrin-associated periodic syndrome (CAPS) is a severity spectrum of rare diseases. CAPS comprises the three conditions previously described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic, cutaneous, and articular (CINCA) syndrome. The clinical phenotype of CAPS is characterized by systemic inflammation. Read More

    Influenza Vaccination as a Novel Trigger of Wells Syndrome in a Child.
    Pediatr Dermatol 2015 Jul-Aug;32(4):e171-2. Epub 2015 Apr 20.
    Department of Dermatology, Chelsea and Westminster Hospital, London, UK.
    Wells syndrome is a rare disorder of unknown etiology. Precipitants include insect bites, infections, medications, malignancies, and vaccinations. Possible mechanisms include hypersensitivity reactions to antigens. Read More

    Eosinophilic Skin Diseases: A Comprehensive Review.
    Clin Rev Allergy Immunol 2016 Apr;50(2):189-213
    Department of Dermatology, The Second Xiangya Hospital, Central South University, 139 Middle Renmin Road, Changsha, Hunan, 410011, China.
    Eosinophilic skin diseases, commonly termed as eosinophilic dermatoses, refer to a broad spectrum of skin diseases characterized by eosinophil infiltration and/or degranulation in skin lesions, with or without blood eosinophilia. The majority of eosinophilic dermatoses lie in the allergy-related group, including allergic drug eruption, urticaria, allergic contact dermatitis, atopic dermatitis, and eczema. Parasitic infestations, arthropod bites, and autoimmune blistering skin diseases such as bullous pemphigoid, are also common. Read More

    [Wells Syndrome in children and atopy: Retrospective study of 11 cases and review of the literature].
    Ann Dermatol Venereol 2015 May 3;142(5):320-31. Epub 2015 Apr 3.
    Dermatologie, hôpital l'Archet 2, CHU de Nice, BP 3079, 06202 Nice cedex 3, France.
    Background: Well's syndrome, or eosinophilic cellulitis, is rare in childhood, with fewer than 40 pediatric cases being reported since 1979. The physiopathology is unknown.

    Patients And Methods: In February 2012, members of the research group of the Department of Pediatric Dermatology Society submitted their case of Wells' syndrome in children aged 0-15 years. Read More

    Idiopathic Hypereosinophilic Syndrome With Cutaneous Manifestations and Flame Figures: A Spectrum of Eosinophilic Dermatoses Whose Features Overlap With Wells' Syndrome.
    Am J Dermatopathol 2015 Dec;37(12):910-4
    Departments of *Dermatology, and †Pathology, Wexner Medical Center, The Ohio State University, Columbus, OH.
    Importance: Wells syndrome (WS) (eosinophilic cellulitis) is an uncommon eosinophilic dermatitis that has been rarely described in association with, but distinct from, hypereosinophilic syndrome (HES).

    Observations: We report a case of an eosinophilic dermatosis with flame figures in association with idiopathic HES, manifested by inflammatory myocarditis, asthma, and peripheral blood eosinophilia.

    Conclusions And Relevance: The diagnoses of WS and HES, rather than being distinct findings, may represent 2 entities on a spectrum of hypereosinophilic diseases. Read More

    Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.
    J Postgrad Med 2015 Apr-Jun;61(2):120-2
    Department of General Medicine, MES Medical College, Kerala, India.
    Muckle-Wells syndrome (MWS) is a rare autosomal dominant disease that belongs to a group of hereditary periodic fever syndromes. It is part of the wider spectrum of the cryopyrin-associated periodic syndrome (CAPS) which has only rarely been described in non-Caucasian individuals. It is characterized by recurrent self-limiting episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis from childhood. Read More

    Toxicity of eosinophil MBP is repressed by intracellular crystallization and promoted by extracellular aggregation.
    Mol Cell 2015 Mar 26;57(6):1011-21. Epub 2015 Feb 26.
    Institute of Pharmacology, University of Bern, Friedbuehlstrasse 49, 3010 Bern, Switzerland. Electronic address:
    Eosinophils are white blood cells that function in innate immunity and participate in the pathogenesis of various inflammatory and neoplastic disorders. Their secretory granules contain four cytotoxic proteins, including the eosinophil major basic protein (MBP-1). How MBP-1 toxicity is controlled within the eosinophil itself and activated upon extracellular release is unknown. Read More

    The ketone metabolite β-hydroxybutyrate blocks NLRP3 inflammasome-mediated inflammatory disease.
    Nat Med 2015 Mar 16;21(3):263-9. Epub 2015 Feb 16.
    1] Section of Comparative Medicine and Program on Integrative Cell Signaling and Neurobiology of Metabolism, Yale School of Medicine, New Haven, Connecticut, USA. [2] Department of Immunobiology, Yale School of Medicine, New Haven, Connecticut, USA.
    The ketone bodies β-hydroxybutyrate (BHB) and acetoacetate (AcAc) support mammalian survival during states of energy deficit by serving as alternative sources of ATP. BHB levels are elevated by starvation, caloric restriction, high-intensity exercise, or the low-carbohydrate ketogenic diet. Prolonged fasting reduces inflammation; however, the impact that ketones and other alternative metabolic fuels produced during energy deficits have on the innate immune response is unknown. Read More

    A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.
    Nat Med 2015 Mar 16;21(3):248-55. Epub 2015 Feb 16.
    School of Biochemistry and Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.
    The NOD-like receptor (NLR) family, pyrin domain-containing protein 3 (NLRP3) inflammasome is a component of the inflammatory process, and its aberrant activation is pathogenic in inherited disorders such as cryopyrin-associated periodic syndrome (CAPS) and complex diseases such as multiple sclerosis, type 2 diabetes, Alzheimer's disease and atherosclerosis. We describe the development of MCC950, a potent, selective, small-molecule inhibitor of NLRP3. MCC950 blocked canonical and noncanonical NLRP3 activation at nanomolar concentrations. Read More

    [Papillary edema in Muckle-Wells syndrome].
    Ophthalmologe 2015 Sep;112(9):778-82
    Universitätsaugenklinik Münster, Domagkstr. 15, 48149, Münster, Deutschland.
    Papillary edema may occur isolated without functional impairment or secondary related to various syndromes, increased intracerebral pressure or associated with medicinal treatment. The Muckle-Wells syndrome is a rare disease, which among many other symptoms can lead to optic disc swelling and recurrent increase in intracerebral pressure. Besides familial cold-induced autoinflammatory syndrome (FCAS) and neonatal onset multisystem inflammatory disease (NOMID), the Muckle-Wells syndrome also belongs to the cryopyrin-associated periodic syndromes (CAPS). Read More

    [Cryopyrine-associated periodic syndrome: CAPS seen from adulthood].
    Rev Med Interne 2015 Apr 13;36(4):277-82. Epub 2015 Jan 13.
    Service de rhumatologie maladies inflammatoires pédiatriques, centre de référence des maladies auto-inflammatoires rares (CeReMAI), CHU de Bicêtre, AP-HP, université de Paris Sud, 78, rue du Général-Leclerc, 94270 Le Kremlin-Bicêtre, France. Electronic address:
    Cryopyrin-associated periodic syndrome is a rare hereditary periodic fever syndrome for which, the genetic mechanism, mutation in the NLRP3 gene, has allowed to gather 3 clinical phenotypes (familial cold urticaria [FCAS], Muckle-Wells syndrome [MWS], and chronic infantile neurological cutaneous and articular syndrome [CINCA]) initially described independently, and to discover the NLRP3 inflammasome, a key receptor of the innate immunity, which regulates the interleukine-1β secretion into the mononuclear cells. The clinical manifestation of CAPS : urticaria-like skin rash, eyes redness, myalgia and sensory deafness are not specific, if considered separately, and that often leads to a wandering diagnosis through a complex medical journey including various specialists. The diagnostic delay is deleterious to patients compromising their quality of life and exposing them to neurosensory complications and renal failure by secondary amyloidosis. Read More

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