Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis caused by mutations of the NEMO gene, which is required for activation of the nuclear factor-κB signaling pathway. NEMO gene rearrangement, exon 4-10 deletion, is the most common mutation with a frequency of 60-80%. Only four case reports about NEMO rearrangement in Japanese IP cases have been published. In our study, NEMO gene rearrangement was examined in 10 Japanese IP patients and their mothers and was revealed in five of 10 patients and three of their mothers. Interestingly, NEMO gene rearrangement was confirmed in the mothers of two patients without clinical symptoms; thus, NEMO mutation analysis is helpful to detect subclinical IP patients. The clinical symptoms of recently diagnosed Japanese IP patients were summarized for examination of the phenotype-genotype relationship and for comparison between those with and without NEMO gene rearrangement. Results revealed no definite difference in extracutaneous manifestations between the patients with NEMO rearrangement in our study and in other Japanese IP patients previously reported in both Japanese and English-language published work. However, there is higher frequency of ocular manifestation in our study than in other reports. Furthermore, evaluation of dental and nail abnormalities was difficult because most of our patients were observed for 1 year only. Long-term observation is needed for proper evaluation of the clinical status and phenotype-genotype relationship in IP patients.
Pigmentary demarcation lines were observed in a 27‐year‐old Japanese woman during her ninth month of pregnancy. She stated that they were not present before pregnancy. The lines became marked during pregnancy and subsided after delivery. Pigmentary demarcation lines associated with pregnancy have never been reported before in Japanese.
Three cases of anaphylaxis due to cefaclor were reported. All of them developed anaphylactic reactions after exposure to cefaclor by mouth, prick test, or patch testing. Two of them showed crossreactions to other antibiotics. One responded to cephalexin by a prick test and the other responded to cephalexin, ampicillin and talampicillin after patch-testing of short duration.
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