The molecular mechanisms that underlie the detrimental effects of particulate matter (PM) on skin barrier function are poorly understood. In this study, the effects of PM2.5 on filaggrin (FLG) and skin barrier function were investigated in vitro and in vivo. The levels of FLG degradation products including pyrrolidone carboxylic acid, urocanic acid (UCA), and cis/trans UCA were significantly decreased in skin tape stripping samples of study subjects when they moved from Denver, an area with low PM2.5, to Seoul, an area with high PM2.5 count. Experimentally, PM2.5 collected in Seoul inhibited FLG, loricrin, keratin-1, desmocollin-1, and corneodesmosin, but did not modulate involucrin or claudin-1 in keratinocyte cultures. Moreover, FLG protein expression was inhibited in human skin equivalents and murine skin treated with PM2.5. We demonstrate that this process was mediated by PM2.5-induced TNF-alpha and was aryl hydrocarbon receptor-dependent. PM2.5 exposure compromised skin barrier function, resulting in increased transepidermal water loss and enhanced the penetration of FITC-dextran in organotypic and mouse skin. PM2.5-induced TNF-alpha causes FLG deficiency in the skin and subsequently induces skin barrier dysfunction. Compromised skin barrier due to PM2.5 exposure may contribute to the development and the exacerbation of allergic diseases such as AD.

Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease that to this point has been known to occur exclusively in reproductive women. To our knowledge, only one case of pulmonary LAM that was proven pathologically has been reported in a genotypical and phenotypical man. Multiple occurrence of hepatic angiomyolipomas is also rare, and only six cases have been found in the literature. Here, we report a biological and phenotypical man who had pulmonary LAM and multiple hepatic angiomyolipomas, leading to a presumptive diagnosis of tuberous sclerosis. This unusual presentation further broadens the wide spectrum of various clinicopathological aspects of pulmonary lymphangioleiomyomatosis and hepatic angiomyolipoma. Here, we emphasize that multiple hepatic angiomyolipomas should be distinguished from hepatic tumors, particularly in an endemic area for hepatocellular carcinoma. Further, pulmonary lymphangioleiomyomatosis can be a cause of cystic pulmonary disease even in a man.

We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori' s trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers.