Researchers from Zhejiang University, Department of Medicine detail new studies and findings in the area of pediatric in children
2007 NOV 20 -- New investigation results, 'Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients,' are detailed in a study published in International Journal of Dermatology. In this recent article published in the International Journal of Dermatology, scientists in Hangzhou, People's Republic of China conducted a study "To analyze clinical manifestation and gene of NF-kappaB essential modulator (NEMO) in 12 pediatric incontinentia pigmenti (IP) patients Twelve pediatric probands with three of their mothers were enrolled in this study. Physical examinations were undertaken for all patients and questionnaires requesting additional medical and developmental data were sent to the patients' families." "The deletion of exon 4-10 and all 10 exons of NEMO gene were analyzed in these cases. Skin biopsy was performed in one case All 15 patients had skin pigmentation abnormality and were diagnosed according to classic skin lesions. The prevalence of the dental, neurologic system, hair abnormality, and definite family history were 80.0%, 41.67%, 58.33%, and 25.0%, respectively. Histopathological examination was consistent with the diagnosis of IP with ectodermal dysplasia. In NEMO gene, deletion of exons 4-10 were noted in three cases and two of their mothers. A deletion of 19545 T in exon 6 was noted in one case and her mother. A 21690 T to C mutation in intron 8 of NEMO were found in another one case and her mother The results suggest that skin lesion are the most prominent findings in clinics and the traditional diagnosis of IP is based on classic melanin pigmentation," wrote C.C. Zou and colleagues, Zhejiang University, Department of Medicine. The researchers concluded: "Nucleotide deletion of exons 4-10 and single nucleotide mutation/polymorphism were found in these patients, which might account for etiopathogenesis of IP." Zou and colleagues published their study in International Journal of Dermatology (Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients. International Journal of Dermatology, 2007;46(10):1017-22). Additional information can be obtained by contacting C.C. Zou, The Children's Hospital of Zhejiang University School of Medicine, Dept. of Medicine, Hangzhou, China. The publisher of the International Journal of Dermatology can be contacted at: Blackwell Publishing Ltd., 9600 Garsington Rd., Oxford OX4 2DG, Oxon, England. Keywords: People's Republic of China, Hangzhou, Life Sciences, Pediatric, Incontinentia Pigmenti, Dermatology. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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