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Eur J Paediatr Neurol 2019 Mar 28. Epub 2019 Mar 28.

Department of Pediatric Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey.

Objective: Neurologic complications of chronic infantile neurologic, cutaneous and articular syndrome (CINCA) are well-known, whereas there are scarce data regarding neurologic features of milder cryopyrin-associated periodic syndrome (CAPS) phenotypes. We aimed to review the neurologic features in detail and summarize the other CAPS-related manifestations in 12 children.

Methods: All children with CAPS that have been followed-up from pediatric rheumatology outpatient clinic, were enrolled to the study. Read More

World Allergy Organ J 2019 14;12(3):100019. Epub 2019 Mar 14.

Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Germany.

Background: Systemic autoinflammatory diseases (SAIDs) are rare debilitating disorders of which there is limited awareness and a significant delay in diagnosis. There is no uniform approach in the diagnosis and treatment of these disorders and the real life state of SAID patient care is poorly characterized. The aim of this study was to obtain data on the epidemiology, state of care and the perception of physicians who are involved in the care of SAID patients. Read More

J Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Read More

Rheumatol Int 2019 Feb 19. Epub 2019 Feb 19.

Department of Molecular Biology-Genetics and Biotechnology, Dr. Orhan Öcalgiray Molecular Biology-Biotechnology and Genetics Research Centre, Graduate School of Science, Engineering and Technology, İstanbul Technical University, Ayazağa Campus, Maslak, 34469, Istanbul, Turkey.

Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated disease genes. Here, we report a cross-sectional study on targeted Next-Generation Sequencing (NGS) screening in patients with suspected sAIDs to determine the diagnostic utility of genetic screening. Read More

Isr Med Assoc J 2019 Jan;21(1):65

Department of Dermatology, Emek Medical Center, Afula, Israel.

Ocul Immunol Inflamm 2018 Dec 17:1-9. Epub 2018 Dec 17.

a Pediatric Allergy and Clinical Immunology , Uludag University School of Medicine , Bursa , Turkey.

Purpose: To present the ocular findings of the members of a family that has the diagnosis of Muckle Wells syndrome, a form of cryopyrin associated periodic syndrome (CAPS).

Materials And Methods: Nine patients with MWS were included in this study. Each study participant underwent a systemic evaluation, comprehensive ophthalmic examination, and auxillary testings. Read More

Vet Clin North Am Small Anim Pract 2019 Jan;49(1):47-51

Department of Pathobiology, University of Pennsylvania, School of Veterinary Medicine, 3900 Delancey Street, Philadelphia, PA 19104-6051, USA. Electronic address:

Canine acute eosinophilic dermatitis with edema is an uncommon syndromic disorder in dogs with a unique clinical presentation. Most but not all dogs have a history of gastrointestinal upset preceding or concomitant with skin lesion onset. Affected dogs present with macular to generalized erythema that is most evident on the glabrous skin of the abdomen. Read More

Acta Dermatovenerol Croat 2018 Oct;26(3):262-263

Assoc. Prof. Suzana Ljubojević Hadžavdić, MD, PhD, Department of Dermatology and Venereology University Hospital Center Zagreb School of Medicine University of Zagreb, Šalata 4, 10000 Zagreb, Croatia;

Dear Editor,Eosinophilic annular erythema (EAE) is a rare figurate dermatitis of unknown etiology with prominent tissue eosinophilia. A 59-year-old male patient presented with a one-month history of itchy, polycyclic, annular, and partially serpiginous lesions involving the back, the gluteal region, and the extremities (Figure 1, a, b). There was no medical history of drug intake. Read More

J Dermatol 2019 Apr 26;46(4):e146-e147. Epub 2018 Oct 26.

Division of Dermatology, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

Clin Rheumatol 2019 Mar 18;38(3):943-948. Epub 2018 Oct 18.

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.

Cryopyrin-associated periodic syndrome (CAPS) is one of the autoinflammatory disorders caused by mutations in NLRP3 gene. The over-production of interleukin (IL)-1β induced by NLRP3 gene mutations plays an important role in the pathophysiology of CAPS. We diagnosed 3 patients with CAPS, who were lineal family members having a novel mutation of NLRP3 gene. Read More

Eur J Dermatol 2018 Oct;28(5):700-701

Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.

Ann Pathol 2018 Dec 17;38(6):401-406. Epub 2018 Sep 17.

Service d'anatomie et cytologie pathologiques, CHU de Pontchaillou, 2, rue Henri-le-Guilloux, 35033 Rennes cedex 9, France.

Introduction: Cryopyrin associated periodic syndrome is a rare auto inflammatory disease including three clinical entities with a common genetic cause. Among these three entities, Muckle-Wells syndrome is described as an intermediate phenotype associated with a progressive sensorineural hearing loss and AA amyloidosis. The present case reports a renal AA amyloidosis associated with an IgA nephropathy, revealing a Muckle-Wells syndrome. Read More

J Dtsch Dermatol Ges 2018 Oct 29;16(10):1250-1252. Epub 2018 Aug 29.

Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Cutis 2018 Jun;101(6):400;405;406

Department of Dermatology, Oregon Health and Science University, Portland, USA.

J Dermatol 2019 Feb 31;46(2):e57-e59. Epub 2018 Jul 31.

Department of Dermatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Indian J Dermatol Venereol Leprol 2018 Sep-Oct;84(5):594-599

Department of Pathology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Pediatr Dermatol 2018 Sep 12;35(5):e262-e264. Epub 2018 Jul 12.

Division of Dermatology, University of Toronto, Toronto, ON, Canada.

A 4-year-old boy presented with erythematous vesicular plaques, ulceration, edema, and pruritus on the left foot and ankle 10 days after receiving the tetanus, diphtheria, pertussis, and polio; measles, mumps, rubella, and varicella; and hepatitis A/B vaccines. Biopsy showed eosinophilic infiltrates and flame figures, suggesting Wells syndrome. Patch testing showed a 1+ reaction to neomycin and aluminum hydroxide, with a recall reaction of Wells syndrome of the feet bilaterally. Read More

Clin Case Rep 2018 Jul 15;6(7):1241-1245. Epub 2018 May 15.

Department of Dermatology The Children's Hospital at Westmead Westmead NSW Australia.

Cryopyrin-associated periodic syndrome (CAPS) is a monogenetic auto-inflammatory disorder with systemic manifestations. Innate immune system aberrance is seen in both CAPS and erythema nodosum and this case may point to a previously unknown association. In pediatric patients with EN and systemic features, the possibility of underlying CAPS should be considered. Read More

Acta Derm Venereol 2018 Aug;98(8):791-792

Department of Dermatology, National Defense Medical College, Tokorozawa, Japan.

Drugs 2018 Jul;78(11):1073-1083

Division of Nephrology, Department of Medicine, Koc University School of Medicine, Istanbul, Turkey.

Interleukin (IL)-1α and IL-1β are proinflammatory cytokines that play a role in many diseases such as rheumatoid arthritis, juvenile rheumatoid arthritis, gout, and periodic inflammatory syndromes, including familial Mediterranean fever and Muckle-Wells syndrome. Drugs targeting IL-1 such as recombinant IL-1Ra (anakinra), neutralizing anti-IL-1β antibodies (canakinumab) and IL-1β traps (rilonacept) are in clinical use to treat these diseases. Additionally, experimental evidence suggests a role of IL-1 in kidney disease and hypertension and targeting IL-1 showed promising results in high cardiovascular risk patients, hemodialysis and renal transplantation patients. Read More

Rheumatol Int 2018 Aug 27;38(8):1571-1576. Epub 2018 Jun 27.

Department of Pediatric Nephrology, Yıldırım Beyazıt University, Ankara, Turkey.

Autoinflammatory diseases (AIDs) 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 (CAPS) are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticarial syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). CAPS have been associated with gain-of-function variations in NLRP3 (NOD-like receptor family, pyrin containing domain-3). Read More

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

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.

Int J Dermatol 2018 Aug 29;57(8):994-995. Epub 2018 Apr 29.

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

Orphanet J Rare Dis 2018 04 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

BMC Med Genet 2018 03 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

Ann Allergy Asthma Immunol 2018 06 26;120(6):670-671. Epub 2018 Feb 26.

Allergy/Immunology, Emory University, Atlanta, Georgia. Electronic address:

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

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

Eur J Dermatol 2018 04;28(2):253-254

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

J Formos Med Assoc 2018 05 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:

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.

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

Actas Dermosifiliogr 2018 Jul - Aug;109(6):560-562. Epub 2018 Jan 9.

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

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

Hum Vaccin Immunother 2018 04 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

J Clin Rheumatol 2018 Aug;24(5):290-291

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

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

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

Ophthalmic Genet 2018 04 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

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

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

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

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

Ann Acad Med Singapore 2017 08;46(8):324-326

National Skin Centre, Singapore.

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

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

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

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