系统性红斑狼疮和干燥综合征重叠患者出现多发性皮肤纤维瘤

Multiple dermatofibromas (DFs) are rare and have been thought to be associated with altered immunity. In this report, we describe a 27-year-old Japanese woman with systemic lupus erythematosus (SLE) and Sjgren’s syndrome in whom eight nodules appeared over a period of 4 years. Histopathological findings were consistent with DF. SLE rather than Sjgren’s syndrome seemed to have induced the multiple DFs in this patient. We also reviewed the reported cases with multiple DFs associated with SLE and/or Sjgren’s syndrome. Review of the previous reports indicates that SLE is the most frequent autoimmune disorder associated with multiple DFs, and that both SLE and immunosuppressive treatments play a part in induction of multiple DFs. Therefore, if multiple DFs are present it is important that the status of the patient be evaluated from the standpoint of autoimmune diseases, particularly SLE, or immunosuppression.

日本小学儿童中异位皮炎的患病率

Background: Although there have been several reports on the prevalence of atopic dermatitis(AD)inJapaneseschoolchildren based on questionnaires, there has been no nation- wide study of the frequency of this condition diagnosed by dermatologists in regular health check- ups of schoolchildren. Objectives: The objective of this work was to evaluate precisely the prevalence of AD in elementary schoolchildren in Japan based on regular health check- ups by dermatologists. Methods: In 2001/2, elementary schoolchildren: first graders (age 6- 7 years) and sixth graders (age 11- 12 years) were examined by dermatologists in eight prefectures of Japan (Hokkaido, Iwate, Tokyo, Gifu, Osaka, Hiroshima, Kochi and Fukuoka). In each prefecture, public elementary schools were randomly selected from urban and rural districts. We planned to examine about 700 schoolchildren in each of urban first, urban sixth, rural first and rural sixth grades from the eight areas, a total of 22 400 children (700× 4× 8). AD was diagnosed by the dermatologists based on the Japanese Dermatological Association criteria for the disease. Results: The point prevalence of AD was 11 2% overall (2664 of 23 719) ranging from 7 4% (Iwate) to 15 0% (Fukuoka) in the eight areas. Seventy- four per cent, 24% , 1 6% and 0 3% of those afflicted were in the mild, moderate, severe and very severe groups, respectively. Overall, the prevalence of first graders was slightly higher than that of sixth graders (11 8% vs. 10 5% , P < 0 01). There was no apparent difference in prevalence between urban and rural districts, or between boys and girls. Conclusions: The prevalence of AD in Japanese elementary schoolchildren was about 10% , three- quarters of those being mildly affected. This is the first nation- wide study made of Japanese elementary schoolchildren examined by dermatologists to evaluate the frequency of AD.

日本特应性皮炎患者GM-CSF基因多态性的分析

Granulocyte-macrophage colony-stimulating factor (GM-CSF) is thought to play an important role in the pathogenesis of atopic dermatitis. To examine whether GM-CSF single nucleotide polymorphisms (SNPs) are associated with susceptibility to atopic dermatitis, we investigated the genotype and allele frequencies of the SNPs 3606T/C and 3928C/T of the GM-CSF gene in 181 Japanese patients with atopic dermatitis and 100 controls, using a PCR restriction fragment length polymorphism method. A strong linkage disequilibrium existed between the polymorphisms 3606 and 3928, suggesting two common GM-CSF haplotypes, 3606 T-3928 C and 3606 C-3928 T. However, there was no significant difference in genotype or allele frequencies between patients with atopic dermatitis and controls for either of the two polymorphisms, thus GM-CSF SNPs do not appear to be associated with susceptibility to atopic dermatitis in Japanese patients. A large-scale study is necessary to confirm these findings.

对4例隆凸性皮肤纤维肉瘤基因突变的分析

Fusion of the collagen type I α 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been descr-ibed in dermatofibrosarcoma protuberans(DFSP).Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. We examined the breakpoints of the COL1A1 gene using the tumour specimens from four patients with DFSP. The COL1A1-PDGFB fusion transcripts were detected from the cultured tumour cells by reverse transcriptase polymerase chain reaction. Sequence analysis revealed that the ends of exons 23, 25, 26 and 36 in the COL1A1 gene were fusedwith the start of exon 2 in the PDGFB. This study identified three novel COL1A1 breakpoints: exons 23, 26 and 36 of the COL1A1 gene. In one case, the tumour was composed of two areas that differed in cytological atypia, cellularity and mitotic activity, indicating the de-differentiation of the tumour. In tumour cells from two different areas the same aberrant fusion transcripts were identified. These results suggest that the dedifferentiation of tumour cells has nothing to do with the specific breakpoints of the COL1A1 gene,depends on other unknown factors.