Filaggrin Mutation in Korean Patients with Atopic Dermatitis

PURPOSE: Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and European populations in the frequency and spectrum of FLG mutations. Moreover, a distinct set of FLG mutations has been reported in Asian populations. The aim of this study was to examine the spectrum of FLG mutations in Koreans with AD. We also investigated the association of FLG mutations and clinical features of AD and compared the Korean FLG landscape with that of other East Asian countries. MATERIALS AND METHODS: Seventy Korean patients with AD were enrolled in this study. Fourteen FLG mutations previously detected in Korean, Japanese, and Chinese patients were screened by genotyping. RESULTS: Four FLG null mutations (3321delA, K4022X, S3296X, and S2889X) were identified in eleven patients (15.7%). The most commonly detected mutations in Korean patients with AD were 3321delA (n=6, 9.1%) and K4022X (n=3, 4.5%). FLG mutations were significantly associated with elevated IgE (≥200 KIU/L and/or MAST-CLA >3+, p=0.005), palmar hyperlinearity (p<0.001), and a family history of allergic disease (p=0.021). CONCLUSION: This study expanded our understanding of the landscape of FLG mutations in Koreans and revealed an association between FLG mutations and AD phenotype.

Intense Pulsed Light Increases Hyaluronan and CD44 in Epidermal Keratinocytes and Improves Age-Related Epidermal Structure Defects in Mice

No abstract available.

Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa

BACKGROUND: Patients with recessive dystrophic epidermolysis bullosa (RDEB) exhibit blisters and erosions since birth, causing pain, pruritus and various complications. RDEB affects quality of life (QoL) in physical, emotional and social aspects. Furthermore, interminable dressing changes and supportive therapies impose a significant economic burden on the patient's family. OBJECTIVE: We assessed the QoL and economic burden in patients with RDEB. METHODS: Sixteen patients with RDEB were surveyed to assess the QoL and economic burden. Patients answered questionnaires consisting of a visual analogue scale (VAS) on pain and pruritus, Skindex-29, Quality of Life in EB questionnaire (QOLEB), and the economic burden due to EB. RESULTS: Thirteen patients with RDEB completed the questionnaire. Female patients presented higher VAS, QOLEB and total Skindex-29 scores than male patients. Patients with RDEB showed severe levels of pruritus, which was more intolerable than pain. Mean VAS score on pain in RDEB was higher than in oral lichen planus and post-herpetic neuralgia. VAS score on pruritus was similar to those in chronic urticaria, atopic dermatitis, and prurigo nodularis. Compared with other dermatologic conditions, patients with RDEB were profoundly affected in all three scales of skindex-29. Mean "medical cost" in a month was $257.54 (USD) (+/-169.39) and mean "dressing cost" was $358.41 (USD) (+/-312.55), which was negatively related to patient age. CONCLUSION: RDEB had a profound impact on QoL and economic burden. Compared with other dermatologic diseases, RDEB showed severe symptoms and QoL was seriously impaired. Most patients sustained economic burdens, especially on preparing dressing materials. Younger patients experienced more economic burdens.

Clinical Study of Korean Patients with Linear IgA Bullous Dermatosis / 대한피부과학회지

BACKGROUND: Linear IgA bullous dermatosis (LABD) is an autoimmune, chronic bullous disease characterized by sub-epithelial bullae with linear IgA deposits along the basement membrane. LABD primarily affects young children and adults. There has been no study on LABD in Korea to date. OBJECTIVE: The purpose of this study was to evaluate the clinical features, laboratory examinations, treatments, and outcomes of Korean LABD patients. Patient characteristics including age at disease onset, gender, medical associations, medications, immunofluorescence findings, disease duration, treatment, and outcome were analyzed. METHODS: A retrospective analysis was conducted on 16 LABD patients diagnosed at Gangnam Severance Hospital between 1999 and 2014. RESULTS: A total of 16 LABD patients were included in the study, 5 children and 11 adults. The mean ages at disease onset in children and adults were 3.2 and 41 years, respectively. Eighty percent of children with LABD showed complete remission. In adults, partial remission was achieved in 36.4%, and complete remission in 54.5% of patients. Two patients were diagnosed with drug-induced LABD, and 2 with ulcerative colitis-associated LABD. CONCLUSION: Our report differed from previous reports in that all 5 children with LABD were male, and the incidence in adults was higher in females than males. Most patients responded well to dapsone and oral prednisolone. Since LABD is rare and can be misdiagnosed as impetigo or bullous pemphigoid, diagnosis by immunofluorescence microscopy is necessary for proper treatment to attain disease remission.