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    505 results match your criteria Wells Syndrome Eosinophilic Cellulitis

    1 OF 11

    A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene.
    Ophthalmic Genet 2017 Nov 15:1-4. Epub 2017 Nov 15.
    a Clinic of Ophthalmology , University Hospital Ostrava , Czech Republic.
    Introduction: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. Read More

    [Cryopyrin-associated periodic syndromes].
    Rev Med Interne 2017 Oct 27. Epub 2017 Oct 27.
    Filière maladies rares FAI2R, 75000 Paris, France; Assistance publique-Hôpitaux de Paris, 75000 Paris, France; Service de médecine interne, centre de référence national maladies rares pour les maladies auto-inflammatoires et l'amylose (CEREMAIA), hôpital Tenon, université Pierre-et-Marie-Curie, 4, rue de la Chine, 75020 Paris, France.
    Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular (CINCA) syndrome also called neonatal-onset multisystem inflammatory disease (NOMID). Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which in familial cold urticaria and Muckle-Wells syndrome may be triggered or worsened by exposure to coldness. Read More

    Serpiginous Purpuric Eruption of the Leg.
    J Drugs Dermatol 2017 Oct;16(10):1036-1038
    A previously healthy 68-year-old male presented with a rash on his right lower leg. The lesions had spread along the leg since onset 9 days prior, and the patient reported localized soreness and pruritus. He denied systemic symptoms including fever, fatigue, myalgia, joint pain, and recent illness. Read More

    [Giardia duodenalis and its involvement in skin diseases].
    Ann Dermatol Venereol 2017 Nov 29;144(11):676-684. Epub 2017 Sep 29.
    Fondation Cheikh Khalifa Mohammed VI, Casablanca, Maroc; Faculté de médecine et de pharmacie, université Hassan II, Casablanca, Maroc.
    Backgound: Over the last thirty years, the scientific community has become increasingly interested in the intestinal flora, whether commensal or pathogenic, and its impact on other organs. In dermatology, the correlation between intestinal microbial agents and cutaneous lesions is well established. Giardia duodenalis, an intestinal parasite, has been particularly widely studied. Read More

    Wells syndrome associated with lung cancer.
    BMJ Case Rep 2017 Sep 25;2017. Epub 2017 Sep 25.
    Department of Dermatology, Hospital de Braga, Braga, Portugal.
    Wells syndrome (WS) or eosinophilic cellulitis is a rare, idiopathic, inflammatory dermatosis. The typical clinical presentation is urticarial plaque without preferential location that usually heals without scarring. We present a 62-year-old man with history of lung cancer that had undergone a right superior lobectomy 12 months previously. Read More

    Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
    J Rheumatol 2017 Nov 15;44(11):1667-1673. Epub 2017 Sep 15.
    From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell'Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L'Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic-Institut d'Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
    Objective: To evaluate the rate of somatic NLRP3 mosaicism in an Italian cohort of mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS).

    Methods: The study enrolled 14 patients with a clinical phenotype consistent with CAPS in whom Sanger sequencing of the NLRP3 gene yielded negative results. Patients' DNA were subjected to amplicon-based NLRP3 deep sequencing. Read More

    Wells' Syndrome Successfully Treated with Colchicine.
    Case Rep Dermatol 2017 May-Aug;9(2):65-69. Epub 2017 Jul 13.
    Pathology Department, Complejo Hospitalario Universitario de Pontevedra, EOXI Pontevedra-Salnés, Pontevedra, Spain.
    Eosinophilic cellulitis is an uncommon, inflammatory and chronic disorder of unknown etiology. Corticosteroids are currently considered as the first-line treatment but they are not without significant disadvantages such as contraindications in steroid-resistant cases and patients with frequent recurrences. We report a patient suffering from Wells' syndrome with a 24-year history of symptomatic and generalized skin lesions. Read More

    [Autoinflammatory diseases and kidney involvement].
    Ter Arkh 2017;89(6):4-20
    I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia.
    Autoinflammatory disease (AID) is a new concept formulated from the results of studying the pathogenesis of familial periodic fevers, a heterogeneous group of genetically determined diseases characterized by causelessly recurrent exacerbations of the inflammatory process due to genetically determined disorders of innate immunity and accompanied by uncontrolled hypersecretion of interleukin-1 (IL-1). These mechanisms were a basic model for understanding a wide range of rheumatologic and other inflammatory diseases of the internal organs. The late diagnosis of AIDs and their ineffective treatment increase the risk for the development and progression of secondary AA amyloidosis. Read More

    Muckle-Wells syndrome: clinical perspectives.
    Open Access Rheumatol 2017 11;9:123-129. Epub 2017 Jul 11.
    Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France.
    Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Read More

    Muckle-Wells syndrome in the setting of basal cell nevus syndrome.
    Cutis 2017 Jun;99(6):421-424
    Advanced Dermatology Associates, Allentown, USA.
    Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP3 (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication). Read More

    Pharmacological treatment options for cryopyrin-associated periodic syndromes.
    Expert Rev Clin Pharmacol 2017 Aug 20;10(8):855-864. Epub 2017 Jun 20.
    a Department of Rheumatology , University Hospital Basel , Basel , Switzerland.
    Introduction: Cryopyrin-associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases, comprising a spectrum of phenotypes of varying severity. CAPS are associated with gain-of-function mutations in the NLRP3 inflammasome, a multiprotein complex critical for the activation of IL-1ß, and are characterized by episodes of fever, urticaria-like rash, musculoskeletal, ocular, and neurological symptoms. Areas covered: Accounting for the pivotal role of IL-1ß in the pathogenesis of CAPS, three therapeutic options, all blocking the action of IL-1ß, are currently approved: anakinra, a recombinant IL-1 receptor antagonist, the IL-1 trap rilonacept and canakinumab, a monoclonal anti-IL-1ß antibody. Read More

    Periodic fever: From Still's disease to Muckle-Wells syndrome.
    Reumatol Clin 2017 Jun 2. Epub 2017 Jun 2.
    Servicio de Medicina Interna, Hospital Universitario de Cabueñes, Gijón, Asturias, España; Departamento de Medicina, Facultad de Medicina y Ciencias de la Salud, Universidad de Oviedo, Oviedo, Asturias, España.
    Muckle-Wells syndrome is a systemic autoinflammatory disease included in the group of hereditary periodic febrile syndromes. We report the case of a patient with this rare disease to call the attention to the singularity of this condition, its low incidence, its atypical presentation and the subsequent delay in the diagnosis, which is reached when late and devastating consequences have taken place. In this case, the first-line therapy, anti-interleukin 1 (IL-1), failed to control the disease. Read More

    INTERMEDIATE UVEITIS ASSOCIATED WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, AND CERVICAL ADENITIS SYNDROME.
    Retin Cases Brief Rep 2017 May 29. Epub 2017 May 29.
    *Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah; and †Department of Pediatric Immunology and Rheumatology, University of Utah, Salt Lake City, Utah.
    Background/purpose: To report two novel cases of intermediate uveitis associated with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis syndrome.

    Methods: Observational case reports and review of the literature.

    Results: Both patients in this report had an established diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis syndrome before the onset of ocular inflammation. Read More

    Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.
    J Craniofac Surg 2017 Jun;28(4):e349-e351
    *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 03;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 NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase.
    J Allergy Clin Immunol 2017 Oct 16;140(4):1054-1067.e10. Epub 2017 Feb 16.
    Interfaculty Institute for Cell Biology, Department of Immunology, University of Tübingen, Tübingen, Germany. Electronic address:
    Background: The Nod-like receptor NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) and Bruton 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 patients with Muckle-Wells syndrome; 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 pharmacologic targeting strategies remain elusive. Read More

    [Genetics of cryopyrin-associated periodic syndrome].
    Z Rheumatol 2017 May;76(4):313-321
    , 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 2017 May 14;34(3):273-284. 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 2017 Apr 27;36(4):965-969. 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 2017 Apr 10;144(4):284-289. 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

    [Well's cellulitis: A case report].
    Rev Med Interne 2017 Jun 23;38(6):407-411. Epub 2016 Sep 23.
    Service de médecine interne, CHUM, hôpital Pierre-Zobda-Quitman, CS 90632, 97261 Fort-de-France cedex, Martinique.
    Introduction: Wells's cellulitis is a rare eosinophilic dermatose characterized by an inflammatory erythematous eruption, often associated with eosinophilia, and suggestive histologic features. The differential diagnosis with other eosinophilic dermatitis is problematic. The treatment is typically based on systemic steroids. 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

    Successful treatment of eosinophilic cellulitis with dapsone.
    Dermatol Online J 2016 Jul 15;22(7). Epub 2016 Jul 15.
    Department of Dermatology and Venereology, Hospital de Curry Cabral - Centro Hospitalar de Lisboa Central, Lisboa, Portugal.
    A 55-year-old woman presented with a 3-year history of recurrent episodes of pruritic cellulitis-like erythematous plaques, mostly located on the limbs. Simultaneously, fever, malaise and peripheral eosinophilia were noted. The clinical diagnosis of eosinophilic cellulitis (also known as Well's syndrome) was supported by the histopathological finding of typical "flame figures". 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

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