![]() ![]() Upon further screening, p.Lys4021X was identified in four patients with AE (2.9% of all the patients with AE). In filaggrin-related AD, SC hydration was both significantly reduced (PT (p.Lys4021X) in one patient with AE. To elucidate the pathomechanisms underlying filaggrin-related AD, we investigated stratum corneum (SC) hydration and transepidermal water loss (TEWL) as parameters of barrier function in AD patients harboring FLG mutations compared to AD patients without any FLG mutation. Mutations in the gene-encoding filaggrin (FLG), a key molecule involved in skin barrier function, have been shown to be a major predisposing factor for atopic dermatitis (AD eczema). Nemoto-Hasebe, Ikue Akiyama, Masashi Nomura, Toshifumi Sandilands, Aileen McLean, W H Irwin Shimizu, Hiroshi © 2016 European Academy ofĬlinical severity correlates with impaired barrier in filaggrin-related eczema. Patients with OLP/OLL did not display more active dermatoses other than cutaneous LP when compared to healthy controls. OLP/OLL is associated with an altered distribution of filaggrin in the oral mucosa independently of defects in the FLG. No difference was noted in extension and number of symptoms reported by patients with OLP/OLL with or without a concomitant defect in the FLG. No difference was noted in the incidence of defects in the FLG and active dermatoses between patients and healthy controls. The immunoreactivity for filaggrin was significantly more intense in the oral mucosa in the patients with OLP/OLL compared with healthy controls (P = 0.000025). Immunohistochemistry were performed using poly- and monoclonal filaggrin antibodies. were performed in all patients to exclude oral candidiasis. Forty-nine Caucasian patients (42 women and 7 men, mean age 61.0 ± 10.3 years), with symptomatic OLP, OLL or stomatitis, and 29 matched healthy controls underwent a clinical oral and dermatological examination, oral mucosal biopsy and filaggrin genotyping (testing for R2447X, R501X, 2282del4). ![]() To investigate whether patients with OLP/OLL have (i) altered distribution of filaggrin in the oral mucosa (ii) a higher incidence of mutations in the filaggrin gene (FLG) (iii) active dermatoses, apart from cutaneous LP, than healthy controls and (iv) patients with OLP/OLL and a defect in the FLG have more widespread oral lesions and report more symptoms than OLP/OLL patients without a concomitant defect in the FLG. As OLP and OLL are hyperkeratotic diseases and filaggrin is essential to keratinization, the distribution of filaggrin may be altered in these lesions. Oral lichenoid lesions (OLLs), like oral contact reactions, may resemble oral lichen planus (OLP) both clinically and histopathologically. Lichen planus (LP) is a chronic inflammatory disease of unknown aetiology affecting the skin and oral mucosa. Larsen, K R Johansen, J D Reibel, J Zachariae, C Rosing, K Pedersen, A M L Filaggrin gene mutations and the distribution of filaggrin in oral mucosa of patients with oral lichen planus and healthy controls. ![]()
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