Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and have been shown to be major predisposing factors for atopic dermatitis (AD). Approximately 40 loss-of-function FLG mutations have been identified in patients with ichthyosis vulgaris (IV) and/or atopic dermatitis (AD) in Europe and Asia. Major differences exist in the spectra of FLG mutations observed between different ancestral groups. Notably, prevalent FLG mutations are distinct between European and Asian populations. Many cohort studies on FLG mutations in AD have revealed that approximately 25-50% of AD patients harbour filaggrin mutations as a predisposing factor. In addition, FLG mutations are significantly associated with AD-associated asthma. The risk for developing allergic rhinitis is also significantly higher with a FLG mutation, both with and without accompanying AD. Recent studies have hypothesized that skin barrier defects caused by FLG mutations allows allergens to penetrate the epidermis and to interact with antigen-presenting cells, leading to the development of atopic disorders including asthma. The restoration of skin barrier function seems a feasible and promising strategy for prophylactic treatment of AD patients with FLG mutations.

Abbreviations: AE, atopic eczema; CI, confidence interval; Con, healthy control; OR, odds ratio. For combined genotype: asthma+AE, exact P-value of Pearson w 2 -test=0.0122, OR and 95% CI for dominant models (AA vs aX)=7.3692 (1.7715-30.6748); asthmaÀAE, exact P-value of Pearson w 2 -test=0.5563, OR and 95% CI for dominant models (AA vs aX)=1.6124 (0.4979-5.2219); all asthma, exact P-value of Pearson w 2 -test=0.1968, OR and 95% CI for dominant models (AA vs aX)=2.2523 (0.7609-6.6667).www.jidonline.org 2835 R Osawa et al.

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Several reports have suggested the efficacy of radiotherapy for treating extramammary Paget's disease (EMPD); however, these reports comprised only clinical observations, without in-depth histopathological observations. We report our experience of genital EMPD treated by radiotherapy in two elderly women, and the marked efficacy of radiotherapy, confirmed both by clinical observation and by detailed histopathological investigations. Our cases agree with the notion that radiotherapy is useful as an alternative therapy for EMPD, and should be considered particularly in elderly patients who may not tolerate surgery well.