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J Dermatol 2021 May 25. Epub 2021 May 25.

Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.

JGH Open 2021 May 9;5(5):629-631. Epub 2021 Mar 9.

Faculty of Health and Medical Sciences, The University of Adelaide Adelaide South Australia Australia.

Cryopyrin-associated Periodic Syndrome (CAPS) is a rare, genetic autoinflammatory condition associated with NLRP3 gene mutations, causing upregulated innate immunity. CAPS manifests as systemic inflammation, causing a constellation of symptoms on a clinical spectrum of phenotypical severity: Familial Cold Autoinflammatory Syndrome being the mildest, Muckle-Wells Syndrome moderate, and Neonatal Onset Multisystem Inflammatory Disease the most severe, with phenotype spectrum overlap. The treatment in Australia for CAPS is interleukin-1 blockade with receptor antagonist, anakinra. Read More

RMD Open 2021 May;7(2)

Division of Pediatric Rheumatology, Department of Paediatrics and Autoinflammation Reference Center Tuebingen, University Hospital Tuebingen, Tübingen, Germany.

Objective: To report the long-term safety and effectiveness of canakinumab, a fully human anti-interleukin 1β monoclonal antibody, in patients with cryopyrin-associated periodic syndromes (CAPS), including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID), in a real-world setting.

Methods: From December 2009 to December 2015, the β-Confident Registry prospectively enrolled patients with CAPS and non-CAPS conditions who received canakinumab per routine care and were prospectively followed for up to 6 years. The registry protocol did not mandate specific visits or procedures; however, all observed adverse events (AEs) and serious adverse events (SAEs) had to be recorded. Read More

Indian J Nephrol 2021 Jan-Feb;31(1):64-66. Epub 2021 Jan 27.

Department of Nephrology, Manipal Hospitals, Bengaluru, Karnataka, India.

Hearing impairment in a patient with renal failure is an important clue towards etiologic diagnosis of kidney disease. Variety of hereditary diseases, developmental defects, and toxins involve these two organs. However, additional retinopathy is seen in quite a few diseases which include Alport's syndrome and Muckle-Wells syndrome (MWS). Read More

Med Clin (Barc) 2021 May 10. Epub 2021 May 10.

Dermatology Department, Hospital General de México, Mexico.

Am J Emerg Med 2021 Apr 19. Epub 2021 Apr 19.

Department of Emergency Medicine, Western Michigan University, Homer Stryker MD School of Medicine, 1000 Oakland Drive, Kalamazoo, MI 49008-8060, United States of America.

Fever and low back pain with radicular symptoms raise concern for epidural abscess or other neuraxial infection, especially in the context of recent epidural anesthesia. Here we present an unusual case with several confounding factors and an unexpected diagnosis. Read More

Rev Med Suisse 2021 Mar;17(732):610-614

Service de dermatologie et vénéréologie, Département de médecine HUG, 1211 Genève 14.

Wells' syndrome is a rare inflammatory eosinophilic dermatosis. It typically appears as a sudden-onset of one or multiple inflammatory plaques associated with a pruritus. General symptoms are rare. Read More

J Clin Med 2021 Jan 1;10(1). Epub 2021 Jan 1.

Pediatric Rheumatology and Autoinflammation Reference Center Tuebingen (arcT), University Children's Hospital Tuebingen, D-72076 Tuebingen, Germany.

The cryopyrin-associated periodic syndromes (CAPS) are usually caused by heterozygous gene variants, resulting in excessive inflammasome activation with subsequent overproduction of interleukin (IL)-1β. The CAPS spectrum includes mild, moderate, and severe phenotypes. The mild phenotype is called familial cold autoinflammatory syndrome (FCAS), the moderate phenotype is also known as Muckle-Wells syndrome (MWS), and the neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular syndrome (CINCA) describes the severe phenotype. Read More

Indian Dermatol Online J 2020 Nov-Dec;11(6):979-982. Epub 2020 Nov 8.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

Wells syndrome or eosinophilic cellulitis is an idiopathic inflammatory dermatitis characterized by a benign but recurrent evolution. It often causes edematous urticarial plaques on the extremities. Herein, we report two rare cases of Wells syndrome with marked swelling in the hands. Read More

Front Immunol 2020 19;11:584364. Epub 2020 Nov 19.

Department of Dermatology, University of Colorado Anschutz Medical Campus, Aurora, CO, United States.

Cyropyrin-associated periodic syndromes (CAPS) are clinically distinct syndromes that encompass a phenotypic spectrum yet are caused by alterations in the same gene, Many CAPS cases and other -autoinflammatory diseases (-AIDs) are directly attributed to protein-coding alterations in and the subsequent dysregulation of the NLRP3 inflammasome leading to IL-1β-mediated inflammatory states. Here, we used bioinformatics tools, computational modeling, and computational assessments to explore the proteomic consequences of mutations, which potentially drive NLRP3 inflammasome dysregulation. We analyzed 177 mutations derived from familial cold autoinflammatory syndrome (FCAS), Muckle-Wells Syndrome (MWS), and the non-hereditary chronic infantile neurologic cutaneous and articular syndrome, also known as neonatal-onset multisystem inflammatory disease (CINCA/NOMID), as well as other -AIDs. Read More

JAAD Case Rep 2020 Dec 10;6(12):1211-1213. Epub 2020 Oct 10.

Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.

Int J Dermatol 2021 Apr 1;60(4):e150-e153. Epub 2020 Dec 1.

Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

J Histotechnol 2020 12 14;43(4):196-199. Epub 2020 Oct 14.

Department of Pathology, East Tennessee State University Quillen College of Medicine , Johnson City, TN, USA.

We report a rare case of Wells syndrome in which a 61-year-old Caucasian male presented with three distinct skin lesions including a cutaneous bulla, an erythematous plaque, and a linear streak located on the patient's left anterior thigh, left dorsal wrist, and left anterior forearm, respectively. Histologic examination revealed diffuse and interstitial eosinophilic infiltrate admixed with lymphocytes and macrophages that predominantly involve the dermis. Nodular aggregates of eosinophils surrounding dermal collagen fibers suggestive of 'flame figures' were identified. Read More

Eur J Intern Med 2021 Jan 15;83:84-85. Epub 2020 Nov 15.

Division of General Medicine, Department of Comprehensive Medicine 1 Saitama Medical Center, Jichi Medical University, Saitama 330-8503, Japan.

Acta Derm Venereol 2020 Nov 24;100(18):adv00332. Epub 2020 Nov 24.

Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Gentofte Hospitalsvej 15, DK-2900 Hellerup, Denmark. E-mail:

J Dermatol 2021 Feb 8;48(2):e100-e101. Epub 2020 Nov 8.

Department of, Dermatology, Gifu University Graduate School of Medicine, Gifu, Japan.

Otol Neurotol 2021 02;42(2):e168-e171

Department of Otolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.

Objective: Hearing loss is a highly penetrant phenotype in NLRP3 (Nod-Like-Receptor-Pyrin containing 3) gene-related autoinflammatory disorders. A recent study revealed potential medical treatment of hearing loss with anakinra (anti-interleukin 1 receptor antagonist) in selected cases. However, for severely aggravated hearing loss not responsive to anakinra, cochlear implantation (CI) would be the last resort for hearing rehabilitation. Read More

Balkan J Med Genet 2020 Jun 26;23(1):95-98. Epub 2020 Aug 26.

Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare genetic disease with an autosomal dominant transmission, characterized by several congenital anomalies. Clinical features include ectodermal defects affecting the skin, hair, teeth, nails and sweat glands, associated with typical eyelid fusion in addition to a cleft lip and/or palate. The diagnosis is based on clinical criteria and molecular genetic testing of gene, the gene related to AEC syndrome. Read More

Pediatr Neurol 2020 10 3;111:70-72. Epub 2020 Jul 3.

Department of Neurology, Nationwide Children's Hospital, Columbus, Ohio.

Background: Cryopyrin-associated periodic syndrome is characterized by periodic fever, rash, and joint pain. Papilledema rarely occurs. We present our series of patients with cryopyrin-associated periodic syndrome who clinically met the diagnostic criteria for Muckle-Wells syndrome and our experience with secondary intracranial hypertension. Read More

Hautarzt 2021 Apr;72(4):332-336

Universitätsklinik für Dermatologie, Medizinische Universität Wien, Währinger Gürtel 18-20, 1090, Wien, Österreich.

We report on a 20-month-old girl with urticarial and partially annular skin lesions that were disseminated over the whole integument. The lesions persisted over 1 week and then gradually faded and reappeared on new body sites. The histological examination of a skin biopsy revealed an urticarial inflammation pattern with interstitial edema and a diffuse infiltration with many eosinophilic granulocytes without flame figures, neutrophils and lymphocytes. Read More

Sci Rep 2020 08 11;10(1):13562. Epub 2020 Aug 11.

Department of Pathology, Ehime University Proteo-Science Center and Graduate School of Medicine, Shitsukawa 454, Toon, Ehime, 791-0295, Japan.

NLRP3, an intracellular pattern recognition receptor, recognizes numerous pathogens and/or its own damage-associated molecules, and forms complexes with the adaptor protein ASC. These complexes constitute the NLRP3 inflammasome, a platform for processing interleukin (IL)-1β and/or IL-18. Several NLRP3 mutations result in constitutive activation of the NLRP3 inflammasome, causing cryopyrin-associated periodic syndrome (CAPS). Read More

J Eur Acad Dermatol Venereol 2021 Feb 1;35(2):e145-e147. Epub 2020 Sep 1.

Department of Pathology, All India Institute of Medical Sciences, Jodhpur, India.

J Dtsch Dermatol Ges 2020 Jul;18(7):737-739

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

Arch Rheumatol 2020 Mar 6;35(1):149-150. Epub 2019 Nov 6.

Department of Internal Medicine, Division of Rheumatology, Ankara Liv Hospital, Ankara, Turkey.

Dermatol Ther (Heidelb) 2020 Aug 23;10(4):893-899. Epub 2020 Jun 23.

Department of Dermatology, University of Rzeszow, Rzeszow, Poland.

Eosinophilic annular erythema (EAE) is a rare condition with a chronic relapsing and remitting course, characterized by the presence of annular or polycyclic erythematous and plaque lesions and prominent tissue eosinophilia on histopathology. There is an ongoing discussion on whether EAE is a subset of Wells syndrome (eosinophilic cellulitis) or a separate entity. To date, few cases of EAE have been reported in the literature; of these, about 40 cases were in adults and fewer than ten cases were in children. Read More

Am J Clin Dermatol 2020 Aug;21(4):525-539

Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Eosinophilic dermatoses encompass a broad spectrum of diseases of different etiologies hallmarked by eosinophilic infiltration of the skin and/or mucous membranes, with or without associated blood eosinophilia. The wide range of dermatological manifestations of this spectrum, including nodules and plaques, pustules, blisters, ulcers, and urticarial lesions, is reflected in a non-univocal classification system. We identified six groups of eosinophilic dermatoses based on the predominant anatomic level of involvement: (1) epidermal; (2) of the dermal-epidermal junction; (3) dermal; (4) of the hypodermis and muscle fascia; (5) of the pilosebaceous unit; and (6) vascular/perivascular. Read More

J Pediatr Genet 2020 Jun 30;9(2):109-113. Epub 2019 Sep 30.

Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.

Histiocytosis-lymphadenopathy plus syndrome (H syndrome) is caused by mutations in the gene that result in histiocytic infiltration of numerous organs. Patients suffering from this disorder can be easily mistaken for similar conditions such as Muckle-Wells syndrome. We present a 9. Read More

Pediatr Int 2020 05 17;62(5):635-637. Epub 2020 Apr 17.

Department of Pediatrics, Medical Research Institute, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Korea.

J Dermatolog Treat 2020 Apr 22:1-14. Epub 2020 Apr 22.

Department of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Anakinra (Kineret) is an interleukin-1 receptor antagonist (IL-1Ra) FDA approved for use in rheumatoid arthritis and in neonatal-onset multisystem inflammatory disease (NOMID). It has been used off-label for a variety of dermatologic conditions. A review of the available studies and cases of these off-label uses would be valuable to the dermatologist considering alternative treatments for these oftentimes poorly studied conditions. Read More

World J Pediatr 2020 Oct 3;16(5):541-542. Epub 2020 Apr 3.

Rheumatology Department, Unidade Local de Saúde Do Alto Minho, Hospital Conde Bertiandos, 4990-041, Ponte de Lima, Portugal.