Mutation analysis of the PNPLA1 gene in a family with autosomal recessive congenital ichthyosis / 中华皮肤科杂志

Objective To identify a causative gene of autosomal recessive congenital ichthyosis (ARCI) in a Chinese family,and to analyze the genotype-phenotype correlation.Methods Peripheral blood samples were collected from the proband,his elder brother and parents,and genomic DNA was extracted from these blood samples.Genome-wide exome sequencing was conducted to determine the mutation site in the proband,and then allele-specific oligonucleotide primers were designed based on the mutation site.PCR was performed to detect the mutation site to further identify the causative gene of ARCI in the family.Results A new homozygous missense mutation was identified in exon 4 in 1 allele of the PNPLA1 gene in the proband,which led to a codon change from cytosine (C) to thymine (T) at position 700 (c.700C ＞ T) and resulted in the substitution of proline by serine (p.pro234ser).The same mutation was also detected in the proband's brother,and his parents were the mutation carriers.No mutations were found in unrelated healthy Chinese individuals.Conclusion The missense mutation in the PNPLA1 gene (p.pro234ser) is associated with clinical symptoms of the patient with ARCI.

Qingpeng ointment for the treatment of localized eczema in Chinese children: a multicenter, randomized controlled study / 中华皮肤科杂志

Objective To evaluate the efficacy and safety of Qingpeng ointment for the treatment of localized eczema in children.Methods A multicenter,randomized,open-labeled,tacrolimus 0.03％ ointment-controlled clinical trial was conducted.A total of 442 children with localized eczema were enrolled into this study,and divided into 2 groups to topically apply Qingpeng ointment (Qingpeng group) and tacrolimus 0.03％ ointment (tacrolimus group) respectively twice a day for 2 weeks.The children were followed up before the treatment and 1,2 weeks after the treatment,and the efficacy and safety were evaluated at the same time.Results Clinical data from 426 children were included in the efficacy analysis.At 1,2 weeks after the treatment,there were no significant differences in the response rate between the Qingpeng group and tacrolimus group (1 week after the treatment:78.92％ vs.81.77％,x2 =0.545,P =0.460;2 weeks after the treatment:98.65％ vs.97.54％,x2 =0.721,P =0.396).However,the pruritus scores at 1,2 weeks after the treatment were both significantly lower in the Qingpeng group than in the tacrolimus group (1 week:F =14.001,P =0.000;2 weeks:F =11.252,P =0.001).At 1 week after the treatment,the incidence rate of adverse reactions was significantly lower in the Qingpeng group than in the tacrolimus group (P ＜ 0.05).Mild itching,burning sensation and other local irritant sensations were the most common adverse reactions.Conclusion Qingpeng ointment is safe and effective for the treatment of localized eczema in children with good tolerability.

Effects of Qingpeng ointment on skin barrier function in volunteers with xerosis and atopic dermatitis-like mouse models / 中华皮肤科杂志

Objective To estimate effects of Qingpeng ointment on skin barrier function,and to explore their potential mechanisms.Methods A total of 12 female volunteers with xerosis on the extensor surfaces of legs were enrolled into this study.All the volunteers were topically treated with Qingpeng ointment on the right leg (Qingpeng side) and its vehicle on the left leg (vehicle side) twice daily for 7 consecutive days.Skin barrier function-associated indexes including transepidermal water loss (TEWL) and the water content of the stratum corneum were measured before the treatment,after 3-and 7-day treatment separately.Thirty-six BALB/c female mice were randomly and equally divided into 6 groups:a blank control group receiving no induction or treatment,a model group induced by 2,4-dinitrofluorobenzene (DNFB) on the back for 5 consecutive weeks,3 Qingpeng groups and a vehicle group induced by DNFB on the back for 5 consecutive weeks followed by topical treatment with different concentrations (50％,75％,100％) of Qingpeng ointment or its vehicle twice a day for 2 consecutive weeks.At the end of treatment,skin appearance of mice was observed with naked eyes,skinfold thickness and TEWL were measured.Then,all the mice were sacrificed,and skin tissue specimens were resected from the back of mice followed by histopathologic examination and immunohistochemical staining for the detection of filaggrin (FLG),involucrin (IVL) and kallikrein 7 (KLK7) expressions in the epidermis.Results After start of treatment,both the Qingpeng side and vehicle side showed significantly decreased TEWL on day 3 (t =2.651,2.996,respectively,both P＜ 0.05) and 7 (t =3.615,3.586,respectively,both P＜ 0.05),but increased water content of the stratum corneum on day 3 (t=9.029,5.830,respectively,both P＜ 0.001) and 7 (t =13.842,11.299,respectively,both P ＜ 0.001) compared with those before the treatment.However,no significant differences were observed in TEWL or the water content of the stratum corneum between the Qingpeng side and vehicle side at any of the time points (all P ＞ 0.05).In addition,there were no marked differences in mouse skin appearance,skinfold thickness or histopathologic manifestations between the vehicle group and model group,while the manifestations of dermatitis were attenuated to different extents in the three Qingpeng groups compared with the model group.Both TEWL and KLK7 expression levels were significantly decreased in the vehicle group and three Qingpeng groups compared with the model group (all P ＜ 0.05),but similar between the vehicle and Qingpeng groups (all P ＞ 0.05).Conclusion The vehicle of Qingpeng ointment can improve skin barrier function.

Detection of allergen-specific serum IgE in patients with eczema or dermatitis:a multicenter study / 中华皮肤科杂志

Objective To identify common allergens in patients with eczema or dermatitis by using serum IgE tests, and to explore their clinical significance. Methods A retrospective study was carried out on eczema or dermatitis patients with at least one positive serum IgE test result from 10 hospitals in China. Results Totally, 458 patients were included in this study with an average age of 28.13 ± 23.11 years. Of these patients, 209 (45.63%)were male, and 249 (54.37%)were female. The top three allergens were cockroaches(180/458, 39.30%), dust mite mix(152/458, 33.19%) and peanuts (116/458, 25.33%). Polysensitization (sensitization to more than one allergen)was observed in 89.66%(26/29)of patients with atopic dermatitis and 86.84%(33/38)of patients with facial eczema. Moreover, the rate of polysensitization was significantly higher in patients with generalized lesions than in those with circumscribed lesions (80%(88/110)vs. 70.40%(245/348),χ2=3.880, P=0.049). The positive rate of specific IgE against inhaled allergens was highest in the age group of 11-20 years(39/43, 90.70%), while the specific IgE against milk(26.53%, 26/98)and beef (19.39%, 19/98)was mainly observed in children aged less than 3 years. In addition, patients in northern areas showed increased positive rates of specific IgE to mugwort (10.35% vs. 1.61%,χ2= 4.917, P< 0.05), cockroaches (42.42%vs. 19.35%,χ2=11.959, P<0.05), milk (14.39%vs. 3.23%,χ2=5.958, P<0.05), soybeans (13.89%vs. 3.23%,χ2=5.594, P<0.05), beef(11.36%vs. 1.61%,χ2=5.641, P<0.05)and fresh-water fish(13.38%vs. 3.23%,χ2 = 5.235, P< 0.05)compared with those in southern areas. Conclusions Cockroaches are a common allergen in patients with eczema or dermatitis, and their clinical significance is worthy of further study. Polysensitization seems to be more frequent in patients with facial eczema or atopic dermatitis. Age is an important factor influencing allergen sensitization, and there is a regional difference in the distribution of common allergens.

Qingpeng ointment in the treatment of localized dermatitis and eczema in 68 children / 中华皮肤科杂志

Objective To evaluate the efficacy and safety of Qingpeng ointment for the treatment of localized dermatitis and eczema in children.Methods Sixty-eight outpatient children with localized dermatitis or eczema were included in this study.All the patients were topically treated by Qingpeng ointment twice daily for a week,which was agreed by their patients.The efficacy was evaluated after the end of the treatment by lesion scores,and adverse reactions during the treatment were recorded.Results Of the 68 patients,61 completed the trial,7 withdrew from the trial because of worsened lesions,unfavorable effects and distrust of this drug.The total response rate was 81.4％ (31/51) in patients treated with Qingpeng ointment alone.Irritant reaction occured in only one case,but did not influence the treatment.Conclusion Qingpeng ointment displays a favorable efficacy and safety in the treatment of localized dermatitis and eczema in children.

Effect of maintenance treatment with Qingpeng ointment on the prognosis of localized eczema / 中华皮肤科杂志

Objective To evaluate the efficacy and safety of maintenance treatment with Qingpeng ointment in the prevention of recurrence of localized eczema.Methods Totally,197 patients with localized eczema were topically treated with halometasone cream for 2-4 weeks.The patients who achieved clinical cure were then randomly classified into two groups to receive maintenance treatment with Qingpeng ointment (Qingpeng group,n =69) or vitamin E-containing cream (emollient group,n =68).Patients were followed up for 8 weeks for the detection of recurrence after the discontinuation of maintenance treatment.Results During the follow up,the recurrence rate in the Qingpeng group was significantly lower than that in the emollient group (19.70％ vs.37.31％,x2 =5.06,P ＜0.05).Significant differences were also observed in the duration of remission between the Qingpeng group and emollient group ((43.92 ± 15.70) vs.(32.60 ± 14.40) days,t =2.23,P＜ 0.05).The incidence rate of adverse reactions was 1.45％ in the Qingpeng group during the maintenance treatment,and no adverse reactions were observed in the emollient group.Conclusion The maintenance treatment with Qingpeng ointment can delay the recurrence of localized eczema to some extent with a favorable safety.

Efficacy of topical glucocorticoid-antibiotic combination in the treatment of localized eczema / 中华皮肤科杂志

Objective To observe the response of and recurrence in patients with localized eczema after treatment with topical glucocorticoid alone or in combination with topical antibacterials.Methods Totally,217 outpatients with acute or subacute localized eczema were enrolled and randomly classified into two groups to be treated with topical corticosteroids combined with mupirocin cream (experiment group,n=191) or topical corticosteroids alone (control group,n =190) for two weeks.The patients who were cured at the end of the 2-week treatment were followed for 13 weeks for the observation of recurrence.Chi-square test and Student's t test were conducted to compare the cure and recurrence rates between different groups of patients.Results After two weeks of treatment,the cure rate in the experiment group was significantly higher than that in the control group (80.6％ vs.64.8％,x2 =6.576,P =0.01).Increased cure rate was also observed in patients with acute and subacute eczema receiving glucocorticoidCaspase14antibiotic combination therapy compared with those receiving corticosteroids alone.During the 13Caspase14week follow up,a lower recurrence rate was noted in the experiment group compared with the control group (15.6％ vs.33.8％,x2 =6.455,P ＜ 0.05).Further more,the patients experiencing relapse of eczema showed a higher proportion of hand eczema cases (29.4％ vs.13.0％,x2 =4.982,P ＜ 0.05)compared with those without relapse.Adverse reaction was mild in these patients,and no statistical difference was observed between the experiment group and control group (5.71％ vs.4.46％,x2 =0.176,P ＞ 0.05).Conclusion The combination with topical antibacterials may enhance the therapeutic effect of topical glucocorticoids on and reduce the recurrence of localized eczema.

Long-term intermittent treatment of localized chronic eczema with triamcinolone acetonide and econazole nitrate cream / 中华皮肤科杂志

Objective To investigate the efficacy and safety of long-term intermittent treatment with topical corticosteroids in localized chronic eczema.Methods A total of 129 patients with localized chronic eczema were treated with triamcinolone acetonide and econazole nitrate cream (Pevisone (R)).Those who achieved a clinical cure within 4-week treatment were recruited into the following long-term study and classifled into 2 groups to be intermittently treated with triamcinolone acetonide and econazole nitrate cream or a moisturizing cream for 8 weeks.The cream was applied topically twice a day for 2 days every week.Patients were followed up on week 4 and 8 after the beginning of treatment and on week 12 after the discontinuation of treatment.The severity of eczema in patients was rated according to SCORAD (SCORing atopic dermatitis) score.Results The SCORAD score was significantly lower in patients treated with triamcinolone acetonide and econazole nitrate cream than in those with moisturizing cream on week 8 in the treatment and week 12 after the discontinuation (t=3.076,2.367,both P<0.05).A statistical decrease was also observed in the recurrence rate of eczema in patients treated with triamcinolone acetonide and econazole nitrate cream compared with moisturizing cream.treated patients at the 3 follow-up time points (x2=4.426,7.683,8.199,all P<0.05).The incidence of adverse events was 3.1% during the treatment with triamcinolone acetonide and econazole nitrate cream.No severe adverse reactions were observed.Conclusion Long-term intermittent treatment with topical corticosteroids is effective for the prevention of exacerbation and postponement of recurrence,of eczema.