522 results match your criteria Wells Syndrome Eosinophilic Cellulitis


and compound heterozygous mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Mol Genet Metab Rep 2018 Sep 15;16:23-29. Epub 2018 Jun 15.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5  years of age manifested perseverations that interfered with his functioning at home and at school. After age 6, he developed intermittent episodes of fatigue and somnolence lasting from hours to weeks that evolved over the course of months to more chronic hypersomnia. Read More

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September 2018
1 Read

Eosinophilic cellulitis (Wells syndrome) successfully treated with mepolizumab.

JAAD Case Rep 2018 Jul 6;4(6):548-550. Epub 2018 Jun 6.

Department of Dermatology, Division of Immunology, Allergy and Infectious Diseases, Medical University of Vienna, Vienna, Austria.

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Wells syndrome: a case of successful treatment with omalizumab.

Int J Dermatol 2018 Apr 29. Epub 2018 Apr 29.

Department of pathology, Stavanger University Hospital, Stavanger, Norway.

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April 2018
1 Read

Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study.

Orphanet J Rare Dis 2018 Apr 20;13(1):59. Epub 2018 Apr 20.

Erasmus University Rotterdam, Institute for Medical Technology Assessment, Bayle Building - Campus Woudestein, PO box 1738, 3000, DR, Rotterdam, The Netherlands.

Background: Cryopyrin-associated periodic syndrome (CAPS) is a rare disease. Knowledge on the quality of life (QoL) and the disease's societal impact is limited. Canakinumab is used in increasing frequency for the treatment of CAPS. Read More

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April 2018
4 Reads

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.

BMC Med Genet 2018 Mar 9;19(1):41. Epub 2018 Mar 9.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.

Background: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis. Read More

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March 2018
2 Reads

Eosinophilic infiltrate resembling eosinophilic cellulitis (Wells syndrome) in a patient with mycosis fungoides.

Dermatol Online J 2018 01 15;24(1). Epub 2018 Jan 15.

Department of Internal Medicine, Baylor College of Medicine, Houston, Texas.

Mycosis fungoides (MF) is a T-cell, non-Hodgkin lymphoma that primarily involves the skin. Extracutaneous involvement, such as in the parotidgland, is characteristic of end-stage disease. Eosinophilic cellulitis, or Wells syndrome, is a rare inflammatory dermatitis that involves a dermal infiltrate of eosinophils. Read More

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January 2018
4 Reads

Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.

Int J Trichology 2018 Jan-Feb;10(1):17-20

Department of Dermatology, Base Hospital Delhi Cantt, New Delhi, India.

Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. Read More

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February 2018

Wells' syndrome-like reaction following Argas reflexus bites.

Eur J Dermatol 2018 Apr;28(2):253-254

University Claude Bernard Lyon1, INSERM U1111, Lyon, France, Department of Allergy and Clinical Immunology, CHU Lyon-Sud, Pierre Bénite, France.

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April 2018
1 Read

Wells syndrome (eosinophilic cellulitis) caused by adrenal insufficiency and relieved by cortisone supplementation.

J Formos Med Assoc 2018 May 3;117(5):450-451. Epub 2018 Feb 3.

Skin Institute, Hualien Tzu Chi Hospital, Institute of Medical Sciences, Tzu Chi University, No. 707, Sec. 3, Zhongyang Rd., Hualien City, Hualien County 970, Taiwan. Electronic address:

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May 2018
4 Reads

A case of eosinophilic annular erythema as a presenting sign for autoimmune hepatitis.

JAAD Case Rep 2018 Jan 19;4(1):84-86. Epub 2017 Dec 19.

Department of Dermatology, The George Washington Medical Faculty Associates, Washington, DC.

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January 2018
1 Read

Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature.

J Otolaryngol Head Neck Surg 2018 Jan 30;47(1). Epub 2018 Jan 30.

Department of Pediatric Otolaryngology Head and Neck Surgery, McGill University Health Center, Montreal Children's Hospital, 1001, boul. Décarie - Local A02.3017, Montreal, QC, H4A 3J1, Canada.

Background: Muckle-Wells syndrome (MWS) is a rare auto-inflammatory disease characterized by the presence of recurrent urticaria, deafness and amyloidosis. Progressive sensorineural hearing loss (SNHL) is reported to occur in up to 85% of patients occurring in the second and third decades and as early as the first decade in patients with a more severe phenotype, thus potentially having a significant impact on a child's development. IL-1 inhibitors, such as Anakinra, have been described to improve systemic inflammation, and stabilize or improve hearing status as well. Read More

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January 2018
5 Reads

Expanding the genetic profile of Hay-Wells syndrome.

Actas Dermosifiliogr 2018 Jan 9. Epub 2018 Jan 9.

Unidad de Dermatología, Hospital General Universitario de Alicante, Alicante, España.

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January 2018
3 Reads

Eosinophilic annular erythema in adults: report of two cases and review of the literature.

An Bras Dermatol 2017 ;92(5 Suppl 1):65-68

Department of Dermatology, Hospital Sagrat Cor - Barcelona, Spain.

We herein report two cases of eosinophilic annular erythema in adults, which is rare. In both patients, lesions developed rapidly in few days and were located mainly on the trunk, buttocks, and extremities. Diagnosis was histopathological, with typical features including acute dermal inflammatory infiltrate with abundant eosinophils. Read More

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March 2018
3 Reads

Wells syndrome secondary to influenza vaccination: A case report and review of the literature.

Hum Vaccin Immunother 2018 Apr 18;14(4):958-960. Epub 2018 Jan 18.

b Division of Internal Medicine, McGill University Health Center , Montreal , Quebec , Canada.

Vaccinations have been shown repeatedly to be extremely safe with low incidence of complications. Given the rarity, these adverse events, they must be reported and examined cautiously. This case report illustrates the first case of an adult presenting with Wells syndrome that developed soon after vaccination with the thiomersal, a common preservative, containing influenza vaccine. Read More

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April 2018
6 Reads

A Case of Amyloidosis Caused by Sporadic Muckle-Wells Syndrome: Response to Treatment With Anakinra.

J Clin Rheumatol 2017 Dec 12. Epub 2017 Dec 12.

Department of Internal Medicine Ankara University Medical School Ankara, Department of Rheumatology Yildirim Beyazit University Medical School Ankara, Turkey. Department of Nephrology Ankara University Medical School Ankara, Turkey.

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December 2017
12 Reads

Clinical Course of Eosinophilic Cellulitis.

Tokai J Exp Clin Med 2017 Dec 20;42(4):143-146. Epub 2017 Dec 20.

Department of General Internal Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, kanagawa 259-1193, Japan.

The patient was a previously healthy 23-year-old woman who made an outpatient visit to our hospital's Department of General Internal Medicine after developing pain and edema of the lower legs a week earlier. The patient was diagnosed with eosinophilic cellulitis (EC) based on an increased eosinophil count of 5,418/mm and the results of a skin biopsy of the lower leg that showed eosinophilic infiltration of the dermal tissue. Her condition improved after oral prednisone therapy. Read More

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December 2017
5 Reads

Dapsone for Recalcitrant Eosinophilic Annular Erythema: A Case Report and Literature Review.

Dermatol Ther (Heidelb) 2018 Mar 8;8(1):157-163. Epub 2017 Dec 8.

UT Health Science Center San Antonio, San Antonio, TX, USA.

Eosinophilic annular erythema (EAE) is a rare entity of unknown etiology that is possibly related to a hypersensitivity reaction and presents as annular erythematous plaques with tissue eosinophilia. It is classified as a figurate erythema with a controversial relationship to Wells syndrome (WS) in the literature, where it is generally considered a separate entity or subset based on clinical and histopathologic differences. EAE typically presents with recurrent, erythematous, arcuate, and annular plaques on the trunk and proximal extremities. Read More

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March 2018
7 Reads

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 2018 Apr 15;39(2):251-254. 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

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April 2018
6 Reads

[Cryopyrin-associated periodic syndromes].

Rev Med Interne 2018 Apr 27;39(4):287-296. 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

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April 2018
1 Read

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

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October 2017
2 Reads

[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

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November 2017
2 Reads

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

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September 2017
1 Read

Bullous Pesentation of Idiopathic Wells Syndrome (Eosinophilic Cellulitis).

Ann Acad Med Singapore 2017 Aug;46(8):324-326

National Skin Centre, Singapore.

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August 2017
3 Reads

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 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 gene yielded negative results. Patients' DNA were subjected to amplicon-based deep sequencing. Read More

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November 2017
7 Reads

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

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July 2017
6 Reads

[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

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November 2017
3 Reads

Muckle-Wells syndrome: clinical perspectives.

Authors:
Tu-Anh Tran

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 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

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July 2017
1 Read

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 NLRP (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

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June 2017
6 Reads

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

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August 2017
10 Reads

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

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June 2017
1 Read

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

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May 2017
5 Reads

Endometriosis in the setting of Muckle-Wells syndrome treated with an IL-1β antagonist.

Eur J Dermatol 2017 08;27(4):442-443

Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan.

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August 2017
2 Reads

Eosinophilic Cellulitis Possibly Due to Mosquito Bite With High IL-5 Production.

J Investig Allergol Clin Immunol 2017;27(2):149-150

Department of Dermatology, University of Occupational and Environmental Health, Kitakyushu, Japan.

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June 2017
1 Read

Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome.

J Clin Immunol 2017 May 6;37(4):339-341. Epub 2017 Apr 6.

Department of Microbiology and Immunology, Graduate School of Health Care Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

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May 2017
2 Reads

Wells Syndrome with Bullous Lesions.

Authors:
Jay A Lieberman

J Allergy Clin Immunol Pract 2017 Sep - Oct;5(5):1410. Epub 2017 Mar 27.

Department of Pediatrics, The University of Tennessee Health Science Center, Memphis, Tenn. Electronic address:

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March 2017
1 Read

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

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June 2017
1 Read
0.68 Impact Factor

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

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March 2017
8 Reads

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

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October 2017
9 Reads

[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

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May 2017
16 Reads

Disorders characterized by predominant or exclusive dermal inflammation.

Authors:
Mark R Wick

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

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May 2017
14 Reads

Muckle-Wells syndrome in Chinese patients: a single center case series.

Authors:
Di Wu Min Shen

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

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April 2017
1 Read

An NLRP3 Mutation Causes Arthropathy and Osteoporosis in Humanized Mice.

Cell Rep 2016 12;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

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December 2016
2 Reads

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

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October 2017
4 Reads

[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

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April 2017
1 Read

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

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October 2016
2 Reads

[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

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June 2017
2 Reads

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

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September 2016
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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

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July 2016
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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

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September 2016
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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

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September 2016
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