Stratum corneum lipids, skin barrier function and filaggrin mutations in patients with atopic eczema

Jungersted, Jakob Mutanu; Scheer, Helene Sophie; Mempel, Martin; Baurecht, Hansjörg; Cifuentes, Lorena; Høgh, Julie Kaae; Hellgren, Lars; Jemec, Gregor B. E.; Agner, Tove; Weidinger, Stephan

doi:10.1111/j.1398-9995.2010.02326.x

Cited by 302 publications

(255 citation statements)

References 38 publications

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“…This hypothesis is supported by a recent population-based study on adults which demonstrated associations of FLG mutations with 'dry skin' independent from the presence of AD, whereas associations with elevated IgE levels were only observed in atopic individuals [74]. More recent functional studies indicated that filaggrin mutations are associated with decreased levels of natural moisturizing substances, increased transepidermal water loss and increased skin pH, whereas they do not seem to contribute to the altered ceramide profile observed in AD [75,76]. However, more research is needed to elucidate the phenotypic characteristics caused by FLG mutations.…”

Section: Filaggrinsupporting

confidence: 62%

Clinical Impact of Current Genetics Findings

Weidinger¹,

Kabesch²

2011

Pediatric and Adolescent Medicine

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Atopic dermatitis (AD) is the one of the most common chronic skin diseases with prevalence rates of up to 20% in young infants and children and up to 5% in adults. The majority of patients show an onset of disease in early childhood and a spontaneous remission until adolescence, but there might be relapses, and the disease can also start in or persist into adulthood. AD presents a wide spectrum of clinical patterns and a variety of trigger factors with variable importance in the individual patient. It is frequently accompanied by elevated levels of total serum IgE antibodies and IgEmediated responses to common allergens, and often co-occurs with other allergic disorders such as food allergy, asthma and rhinitis, giving further rise to possible subpopulations of patients [1].Since there is no objective laboratory test or histologic finding specific for AD, diagnosis is usually made on the basis of a dermatologic examination of skin lesions considering their age-specific morphology and distribution. Further signs leading to the diagnosis of AD are the chronicity of symptoms and their association with pruritus [2]. For large epidemiologic studies, numerous diagnostic criteria have been developed in order to establish a definition for AD by using reliable discriminators resulting in increased validity and reproducibility of the diagnosis of AD. At present, the UK diagnostic criteria are most widely validated and appear to be applicable and repeatable across all ages and many ethnicities. However, as shown in a recent review, the ideal set of diagnostic criteria still has to be established [3].The pathophysiology of AD is complex and involves a disturbance of the epidermal barrier as well as abnormal immunological and inflammatory pathways leading to a Th2-dominated immune response with a Th17 component in acute AD lesions and the progressive conversion to a Th1-dominated response in chronic AD lesions [1].

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Section: Filaggrinsupporting

confidence: 62%

Clinical Impact of Current Genetics Findings

Weidinger¹,

Kabesch²

2011

Pediatric and Adolescent Medicine

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“…AD olguların-da deri PH'sının arttığı ve bu artışın filagrin mutasyou taşıyan grupta anlamlı derecede yüksek olduğu gösterilmiş, bunun filagrin yıkım ürün-leri ile ilişkili olduğu belirtilmiştir. 15 Ancak, kesin olarak araştırmaların ortaya koyduğu önemli nokta, AD olgularında seramid yapısında ve profilinde sağlıklı populasyona göre değişikliklerin olduğu ve bunun da stratum korneumun su tutma kapasitesinin azalmasına, transepidermal su kaybının artmasına yol açtığıdır. 16 …”

Section: Derinin Bozulmuş Bariyer Fonksiyonuunclassified

Atopik Dermatit

Alper¹,

Türk²

2011

Turkderm

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ÖzetAtopik dermatit sanayileşmiş toplumlarda önemli bir sağlık sorunu olarak karşımıza çıkarken, gelişmekte olan ülkemizde ise sıklığı giderek artış göstermektedir. Sum maryAtopic dermatitis is one of the important public health problems of the industrialized communities, and the prevalence of the disease has been increasing in our developing country. In this paper, etiopathogenesis, clinical characteristics and current therapeutic approaches of atopic dermatitis is reviewed under highlights of recently published guidelines and the literature. (Turk derm 2011; 45: 168-73

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“…The skin barrier defect is one of the primary events that initiate disease pathogenesis, allowing the entrance of numerous antigens into the epidermis in patients with AD (Onoue, et al, 2009, Osawa, et al, 2011. The FLG mutation carriers have demonstrated elevated TEWL (Jungersted, et al, 2010, Kezic, et al, 2008, basal erythema, skin hydration, increased skin pH (Jungersted, et al, 2010, Nemoto-Hasebe, et al, 2009), SC thickness (Nemoto-Hasebe, et al, 2009, impaired SC integrity upon repeated tape stripping (Angelova-Fischer, et al, 2011), and increased diffusivity of PEG 370 (Jakasa, et al, 2011) compared to healthy donors. Nevertheless, these alterations found in FLG mutation carriers are not consistently correlated with AD since AD patients without FLG mutation might also share some similar features.…”

Section: Filaggrin and Altered Skin Barrier Functionmentioning

confidence: 99%