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Notes: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A→G transition at position 2879 in exon 10 of the DSRAD gene was detected.

Notes: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder with progressive hair loss starting in early childhood and aggravating at puberty. Several studies have mapped the MUHH gene to chromosome 8p21. Here we report a Chinese MUHH family with variable phenotypes. All affected individuals have anomalies affecting both hair density and hair shafts. Major clinical characteristics, disease history and histological examination support the diagnosis of MUHH, but the features of scarring in this kindred are modest and none of the patients have vertex hair loss, which is in contrast with typical MUHH. We now report genotyping and linkage analysis using 11 polymorphic microsatellite markers spanning the MUHH locus at 8p. Two-point linkage analysis using these markers revealed significant exclusion of this locus (log of the odds scores 〈 − 2) at θ = 0 indicating that there is a range of clinical presentations in MUHH, and that more than one genetic locus is responsible for the disorder.

Notes: Haplotype associations of the major histocompatibility complex (MHC) with psoriasis vulgaris (PV) have been demonstrated in different racial or ethnic populations. The objective of this study was to demonstrate the different haplotype associations of the MHC in Chinese patients with psoriasis according to the type of onset and their sex. One hundred and thirty-eight patients with PV and 149 normal control subjects without psoriasis were typed for HLA-A, -B, -C, -DQA1, -DQB1 and -DRB1 by using the PCR with sequence-specific primers. The results showed: (i) HLA-A*26 (26.1% vs. 12.1%, Pc 〈 1 × 10−5), -B*27 (17.03% vs. 1.01%, Pc 〈 1 × 10−7), -Cw*0602 (15.58% vs. 5.03%, Pc 〈 1 × 10−2), -DQA1*0104 (19.93% vs. 9.40%, Pc 〈 1 × 10−3), -DQA1*0201 (22.40% vs. 10.74%, Pc 〈 1 × 10−3), -DQB1*0303 (18.12% vs. 9.73%, Pc 〈 1 × 10−7), and -DRB1*0701/02 (26.09% vs. 9.73%, Pc 〈 1 × 10−7) were significantly increased in PV patients, while HLA-B*57, -DQB1*0201 were slightly increased in PV patients. HLA-Cw*0304 (5.07% vs. 14.43%, Pc 〈 1 × 10−3), -DQA1*0501 (5.79% vs. 14.09%, Pc 〈 0.05) were found to be negatively associated with PV, but HLA-A*2 (2.54% vs. 6.38%, Pc 〈 0.5) was decreased in PV patients without statistical significance. (ii) HLA-A*26-B*27 [P 〈 0.0001, odds ratio (OR) = 48.38], -A*26-Cw*0602 (P 〈 0.0001, OR = 11.84), -B*27-Cw*0602 (P 〈 0.0001, OR = undefined), -DRB1*0701/02-B*27 (P 〈 0.0001, OR = 22.62), -DRB1*0701/02-DQA1*0104 (P 〈 0.0002, OR = 3.59), -DRB1*0701/02-DQB1*0303 (P 〈 0.0001, OR = 5.63), -DQA1*0201-DQB1*0303 (P 〈 0.0002, OR = 7.77), -A*26-B*27-Cw*0602 (P 〈 0.0004, OR = undefined), -A*26-DRB1*0701/02-DQA1*0201-DQB1*0303 (P 〈 0.01, OR = undefined) were identified as risk haplotypes for patients with PV in China. (iii) HLA-A*26 -B*27 (P 〈 0.0001, OR = 58.47), -DQA1*0201-DQB1*0303 (P 〈 0.0001, OR = 8.62), -DRB1*0701/02 -DQA1*0104 (P 〈 0.0002, OR = 4.13), -DRB1*0701/02-DQB1*0303 (P 〈 0.0001, OR = 6.68) and -A*26-DRB1*0701-DQA1*0201 -DQB1*0303 (P 〈 0.006, OR = undefined) were only significantly associated with type I psoriasis compared with controls, while others showed no differences in either type I or type II psoriasis. (iv) These associated haplotypes with PV were not different by sex, except that the frequency of DRB1*0701/02-DQB1*0303 (P 〈 0.0001, OR = 10.14) was higher in male patients with psoriasis. To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.

Notes: It has been shown that many antihistamines may have anti-inflammatory activity in addition to being H1 antagonists. Mizolastine (MIZ), a novel antihistamine, might also have anti-angiogenesis properties. In this study, we investigated the influence of MIZ on proangiogenesis factors, vascular endothelial cell growth factor (VEGF), tumour necrosis factor (TNF)-α and keratinocyte-derived chemokine (KC) in murine mast cells by using ELISA and RT–PCR, as compared with dexamethasone (DEX) and loratadine (LOR). Our results show that MIZ is effective in the inhibition of KC, VEGF and TNF-α release induced by an IgE-dependent mechanism, in a time- and dose-dependent manner. The differences between the inhibitory effects of the three drugs on these proangiogenic factors were rather subtle. Semiquantitative analysis using RT–PCR showed that the three drugs significantly reduced VEGF165, VEGF120, TNF-α and KC mRNA expression. Statistical results revealed that the effect of DEX on VEGF165 mRNA was different from that of MIZ or LOR (P 〈 0.01) and the differences between the three drugs on VEGF120, TNF-α and KC mRNA were not statistically significant (P 〉 0.05). These findings raise the possibility that MIZ can mediate anti-angiogenesis activity and that the effect may depend not only on the inhibition on the levels of cytokine proteins but also at the mRNA level.