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Wells' Syndrome (well + syndrome)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2003
Angela Rösen-Wolff
Abstract: Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is characterized by fever, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a deforming arthritis. In the CIAS1 gene of many but not all CINCA patients, disease-associated mutations have been found recently. We here describe two such patients from Germany. One of them, a 3-yr-old boy, has a 1709A,G, Y570C, mutation, which has previously been described to cause CINCA syndrome. His clinical course is very severe and no satisfying response has been achieved even with high doses of local and systemic steroids. The other patient has a somewhat milder clinical course and considerable improvement could be accomplished with moderate and low doses of steroids. In her CIAS1 gene we have found a 1043C,T, T348M, mutation, which has only been detected in Muckle,Wells syndrome before. Our results suggest that the severity of symptoms in CINCA patients may be influenced by the underlying mutation in the CIAS1 gene. Furthermore, our observations support the view that CINCA syndrome and Muckle,Wells syndrome are essentially the same disease with different degrees of severity. [source]

Hay,Wells syndrome (AEC): a case report

ORAL DISEASES, Issue 5 2006
Emilio Macias
We would like to present a case of the rare genetic skin disorder catalogued as AEC syndrome. This rare disorder was described in 1976 by Hay and Wells in seven individuals from four families, and it entails a complex polymalformative syndrome with an autosomal-dominant inheritance pattern and variable penetration. Descriptive explanation and facial and intraoral images of this rare disorder constituted the study design. The neonatal report outlines dysplastic phenotype, micrognathia, hypoplasia of the hard and soft palate, cleft palate, small nose, mammary hypoplasia with ectopic mammary nodules, hypoplastic external genitalia with clitoral hypertrophy, hypoplasia of the nails, a tendency towards dorsiflexion of the big toe on both feet, ankyloblepharon filiforme, low positioning of the auricles and faulty development of the left auricle, scaly exanthema with eritrodermatitis and hyperkeratosis, good lung ventilation, normal heart rhythm and normal neurological examination. Although only a few cases published are available, clinical variability is one of the hallmarks of AEC syndrome. The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs. They are all are present in the case reported. [source]

Autoinflammatory syndromes with a dermatological perspective

THE JOURNAL OF DERMATOLOGY, Issue 9 2007
Nobuo KANAZAWA
ABSTRACT The term autoinflammatory syndromes describes a distinct group of systemic inflammatory diseases apparently different from infectious, autoimmune, allergic and immunodeficient ones. Originally, it was almost synonymous with clinically defined hereditary periodic fever syndromes, including familial Mediterranean fever, hyper immunoglobulin D syndrome with periodic fever and tumor necrosis factor receptor-associated periodic syndrome. Similar but distinct periodic fever syndromes accompanied by urticarial rash, familial cold autoinflammatory syndrome, Muckle,Wells syndrome and chronic infantile neurological cutaneous articular syndrome, have all been reportedly associated with CIAS1 mutations and are collectively called cryopyrin-associated periodic syndromes. Consequently, the concept of autoinflammatory syndromes has been spread to contain other systemic inflammatory diseases: rare hereditary diseases with or without periodic fevers, such as pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome, Blau syndrome and chronic recurrent multifocal osteomyelitis, and the more common collagen disease-like diseases, such as Behcet's disease, Crohn's disease, sarcoidosis and psoriatic arthritis. These diseases are all caused by or associated with mutations of genes regulating innate immunity and have common clinical features accompanied with activation of neutrophils and/or monocytes/macrophages. In this review, major autoinflammatory syndromes are summarized and the pathophysiology of related skin disorders is discussed in association with dysregulated innate immune signaling. [source]

Cryopyrin-associated periodic syndromes and autoinflammation

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 1 2008
K. Shinkai
Summary Autoinflammatory syndromes are a distinct class of inherited diseases of cytokine dysregulation with important cutaneous features. Several disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle,Wells syndrome and neonatal onset multisystem inflammatory disorder (NOMID), are associated with mutations in a common gene, CIAS-1. These disorders are now believed to represent related conditions along a spectrum of disease severity, in which FCAS is the mildest and NOMID is the most severe phenotype. Patients typically present with lifelong atypical urticaria with systemic symptoms, with potential for developing end-organ damage due to chronic inflammation. Advances in the understanding of the genetic basis of these syndromes have also revealed cytokine signalling molecules that are critical to normal regulation of inflammatory pathways. The dramatic response of these syndromes to anakinra, an interleukin (IL)-1 antagonist, highlights the important role of IL-1 cytokine signalling in the pathogenesis of this rare but fascinating class of diseases. [source]

Photosensitivity: a possible cause for Wells' syndrome?

PHOTODERMATOLOGY, PHOTOIMMUNOLOGY & PHOTOMEDICINE, Issue 1 2008
Yung Chien Kwah
Summary Wells' syndrome is a rare inflammatory dermatitis. To date, the cause is unknown but it has been associated with a variety of triggers. We present a case of Wells' syndrome with coexisting photosensitivity. [source]

Eosinophilic cellulitis presented with semicircular pattern

THE JOURNAL OF DERMATOLOGY, Issue 11 2006
Ozlem KARABUDAK
ABSTRACT Eosinophilic cellulitis (Wells' syndrome) is a rare condition of unknown etiology and pathogenesis. It is characterized by erythematous plaques and a histological picture of dermal eosinophilic infiltration with "flame figures". The typical clinical presentation of eosinophilic cellulitis is mildly pruritic cellulite-like plaques. Urticarial, vesiculo-bullous, nodular and papulonodular variants were also reported. Herein, we describe a patient with annular and semicircular manifestations of eosinophilic cellulitis. It was treated successfully with low-dose cyclosporine A treatment. [source]

Annular erythema with eosinophilia: A subset of Wells' syndrome

AUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 4 2007
R. Howes
We present a 52-year-old lady with a 5-year history of a persistent, widespread, annular erythema associated with lethargy, arthralgias, and an inflammatory synovitis. Skin biopsies have shown mild lichenoid change at the dermoepidermal junction; and oedema, mucin, and a diffuse lymphocytic and eosinophilic infiltrate without flame figures in the dermis. A full blood count including an eosinophil count; liver, renal and thyroid function; rheumatoid factor, ANA, ENA, dsDNA, complement studies, immunoglobulins, and serum protein elecrophoresis and immunoelectrophoresis; flow cytometry of peripheral blood for lymphocyte markers; stool examination for ova, cysts and parasites; and a CT scan of the chest and abdomen have shown no significant abnormality. Hydroxychloroquine has stabilised but not cleared her condition. Cases presenting clinically with annular erythema and histologically with eosinophilic cellulitis are difficult to classify. We discuss the classification of this case in the context of the literature. [source]

Wells' syndrome following thiomersal-containing vaccinations

AUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 3 2003
Karen J Koh
SUMMARY A 3˝-year-old boy presented on three occasions with painful, itchy, oedematous plaques on his limbs. On two occasions he had received hepatitis B vaccination 11,13 days previously, and on the third occasion received triple antigen (DTP) vaccination 10 days earlier. Skin biopsy revealed a prominent infiltrate of eosinophils involving the entire thickness of the dermis. In addition there were prominent ,flame figures' consisting of eosinophilic necrotic collagen surrounded by granular basophilic debris. The clinical and histological pictures were consistent with Wells' syndrome. The eruption settled on the second and third occasions with 0.1% mometasone furoate cream. Subsequent patch testing showed 2+ reaction to preservative thiomersal at 96 hours. This is the first description of Wells' syndrome with typical clinical and histopathological features associated with thiomersal in two different vaccines. [source]

Insect-bite-like Wells' syndrome in association with mantle-zone lymphoma

BRITISH JOURNAL OF DERMATOLOGY, Issue 3 2006
T. Zeeli
Summary Wells' syndrome is a multifaceted dermatosis with a wide morphological spectrum, ranging from characteristic cellulitis-like erythema and wheals to an unusual presentation of vesicles and bullae. We describe a patient in whom Wells' syndrome presented as an insect-bite-like eruption and was associated with underlying mantle-cell lymphoma. We recommend meticulous investigation of patients diagnosed with Wells' syndrome manifesting as an insect-bite-like eruption. [source]

Nodular presentation of eosinophilic cellulitis (Wells' syndrome)

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 8 2001
S A. Holme
Eosinophilic cellulitis is a rare condition of unknown aetiology. The classical presentation is of a tender or mildly pruritic cellulitis-like eruption, that has typical histology characterized by tissue eosinophilia, oedema and ,flame' figures. Other reported clinical presentations include papular and nodular eruptions. It may be recurrent, and preceded at a variable time by a pruritic papular eruption. We describe a patient with the rare nodular variant of eosinophilic cellulitis affecting the palms of the hands, which occurred 2 years after a nonspecific pruritic papular eruption, without an obvious precipitant and in the absence of the more typical cellulitis-like plaques. [source]