Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperaturesensitive phenotype. Hum Mol Genet 15: 3083-97 Persikov AV, Pillitteri RJ, Amin P et al. (2004) Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat 24:330-7 Xu K, Nowak I, Kirchner M et al. (2008) Recombinant collagen studies link the severe conformational changes induced by osteo-genesis imperfecta mutations to the disruption of a set of interchain salt bridges. J Biol Chem 283:34337-44 Woodley DT, Hou Y, Martin S et al. (2008) Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.

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We report two cases of lupus miliaris disseminatus faciei (LMDF) in which oral tranilast was effective. In case 1, the patient was a 33-year-old woman who had developed pale red papules on her face, especially around her eyes and lower jaw, approximately 7 months previously. Examination of a skin biopsy specimen revealed epithelioid cell granulomas accompanied by caseous necrosis, and a diagnosis of LMDF was made. The patient was treated successively with azithromycin, roxithromycin and minocycline hydrochloride, but there was no improvement. When we tried oral tranilast therapy, flattening of the papules was observed 2 weeks after the start of treatment, and by 1 month the papules had almost disappeared. In case 2, the patient was a 39-year-old man who had broken out in erythematous papules on both upper and lower eyelids, with some accompanied by scaling, 2 years before the initial examination. Pathological specimen revealed epithelioid cell granulomas accompanied by caseous necrosis, and a diagnosis of LMDF was made. There was no improvement when treated orally with minocycline hydrochloride or doxycycline hydrochloride, and treatment was switched to oral tranilast therapy. After 1 month of treatment, the papules had almost disappeared. We concluded that oral tranilast therapy should be tried as a treatment for intractable LMDF.

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