Objective:The causal relationship between eczema and autoimmune diseases has not been previously reported.This study aims to evaluate the causal relationship between eczema and autoimmune diseases.Methods:The two‐sam...Objective:The causal relationship between eczema and autoimmune diseases has not been previously reported.This study aims to evaluate the causal relationship between eczema and autoimmune diseases.Methods:The two‐sample Mendelian randomization(MR)method was used to assess the causal effect of eczema on autoimmune diseases.Summary data from the Genome-Wide Association Study Catalog(GWAS)were obtained from the Integrative Epidemiology Unit(IEU)database.For eczema and autoimmune diseases,genetic instrument variants(GIVs)were identified according to the significant difference(P<5×10−8).Causal effect estimates were generated using the inverse‐variance weighted(IVW)method.MR Egger,maximum likelihood,MR-PRESSO,and MR-RAPS methods were used for alternative analyses.Sensitivity tests,including heterogeneity,horizontal pleiotropy,and leave-one-out analyses,were performed.Finally,reverse causality was assessed.Results:Genetic susceptibility to eczema was associated with an increased risk of Crohn’s disease(OR=1.444,95%CI 1.199 to 1.738,P<0.001)and ulcerative colitis(OR=1.002,95%CI 1.001 to 1.003,P=0.002).However,no causal relationship was found for the other 6 autoimmune diseases,including systemic lupus erythematosus(SLE)(OR=0.932,P=0.401),bullous pemphigoid(BP)(OR=1.191,P=0.642),vitiligo(OR=1.000,P=0.327),multiple sclerosis(MS)(OR=1.000,P=0.965),ankylosing spondylitis(AS)(OR=1.001,P=0.121),rheumatoid arthritis(RA)(OR=1.000,P=0.460).Additionally,no reverse causal relationship was found between autoimmune diseases and eczema.Conclusion:Eczema is associated with an increased risk of Crohn’s disease and ulcerative colitis.No causal relationship is found between eczema and SLE,MS,AS,RA,BP,or vitiligo.展开更多
BACKGROUND Chronic eczema significantly impacts daily life,social interactions,and quality of life;however,no curative treatment has been identified.AIM To determine the clinical efficacy of acupoint injection for chr...BACKGROUND Chronic eczema significantly impacts daily life,social interactions,and quality of life;however,no curative treatment has been identified.AIM To determine the clinical efficacy of acupoint injection for chronic eczema and its influence on peripheral blood T cells.METHODS Eighty patients with chronic eczema treated at our hospital between June 2022 and March 2023 were randomly assigned to a control group(n=40),which received conventional Western medicine treatment,or an observation group(n=40),which received routine Western medicine treatment plus acupoint injection of triamcinolone acetonide.Response and adverse reaction rates,as well as differences in the levels of serum cytokines IFN-γ,IL-2,IL-4,and IL-10 before and after treatment were investigated.RESULTS No difference in overall response rates were found between the observation and control groups(100%vs 90%,respectively;P>0.05);however,the observation group had a higher marked response rate than the control group(87.5%vs 52.5%;P<0.05).Both groups had decreased Eczema Area and Severity Index scores and increased pruritus after treatment(P<0.05),particularly in the observation group(P<0.05).The observation group had an adverse reaction rate of 2.5%(1/40),which did not differ significantly from that of the control group(P>0.05).The observation group exhibited higher post-treatment INF-γand IL-2 but lower IL-4 levels than the control group(P<0.05);however,no significant inter-group difference was observed in post-treatment IL-10 levels(P>0.05).CONCLUSION Acupoint injection of triamcinolone acetonide is safe and effective in treating chronic eczema.Its therapeutic mechanism is related to the regulation of peripheral blood T cell levels,inhibition of inflammatory reactions,and mitigation of immune imbalance.展开更多
Background: One of the most common viral infections occurring in atopic dermatitis (AD) patients is eczema herpeticum (EH): herpes simplex virus (HSV) skin infection. Despite being comparatively uncommon affecting jus...Background: One of the most common viral infections occurring in atopic dermatitis (AD) patients is eczema herpeticum (EH): herpes simplex virus (HSV) skin infection. Despite being comparatively uncommon affecting just 3% of AD patients, EH can progress from a local disease to a potentially fatal systemic infection. Up till now, the pathophysiology of EH is mainly unclear. Case Report: We report the case of a 2-year-old boy who was well-vaccinated and had a history of untreated atopic dermatitis from infancy and presented to the emergency department with increasingly itchy diffuse lesions, red eyes, profuse tearing, chills and malaise. The diagnosis of EH with bilateral ocular involvement was highly suspected. The patient had received intravenous acyclovir with a notable clinical improvement and a complete remission at the two-week follow-up.展开更多
Background:Both eczema and tumor are associated with immune disorders.Although several investigations have observed the rela-tionship between eczema and certain cancers,evidence for causality is lacking.Methods:We con...Background:Both eczema and tumor are associated with immune disorders.Although several investigations have observed the rela-tionship between eczema and certain cancers,evidence for causality is lacking.Methods:We conducted a two-sample Mendelian randomization(MR)study to examine and explore the genetic association between eczema and pan-cancers.Upon satisfying the three core assumptions of MR,we analyzed the causality between eczema and 15 site-specific cancers utilizing an inverse variance weighted method.We verified the results through a series of sensitivity and reverse direction analyses.The exposure and outcome datasets were substituted from the FinnGen and genome-wide association studies catalog data-bases.A meta-analysis on primary and validation analyses was performed to combine the estimates of MR study.Results:Based on the MR analysis results,eczema was associated with an increased risk of lung cancer(odds ratio[OR]=1.0427,95%confidence interval[CI]=1.0082–1.0783,P=0.0148)and brain cancer(OR=1.0285,95%CI=1.0120–1.0452,P=0.0007)and de-creased risk of colorectal cancer(OR=0.9324,95%CI=0.8774–0.9909,P=0.0242)and malignant neoplasm of the kidney(OR=0.9323,95%CI=0.8834–0.9839,P=0.0108).The sensitivity analysis indicated that the results were stable and reliable,and the reverse MR analyses demonstrated no causation between the cancers of interest and eczema.Conclusions:Our results identified eczema as a genetic risk factor for lung and brain cancer and a protective factor for colorectal cancer and malignant neoplasm of the kidney.No connection was observed between eczema and other cancers.Further evidence from epide-miological and mechanistic studies is needed to elucidate these findings in detail.展开更多
Objective:To investigate and analyze the clinical efficacy of Huanglian ointment in the treatment of chronic eczema.Methods:114 cases of chronic eczema patients admitted to the Department of Dermatology of our hospita...Objective:To investigate and analyze the clinical efficacy of Huanglian ointment in the treatment of chronic eczema.Methods:114 cases of chronic eczema patients admitted to the Department of Dermatology of our hospital from January 2023 to January 2024 were selected as the study subjects.They were divided into a study group(n=57)and a reference group(n=57)using the double-blind method.The study group was treated with dialyzed Huanglian ointment,while the reference group was treated with conventional treatment.Symptom scores,inflammatory levels,treatment effects,and immune indexes of the two groups were similar before treatment.Results:After treatment,the symptom scores of the study group were significantly lower than those in the reference group(P<0.05).Besides,the interleukin-2(IL-2),tumor necrosis factor-a(TNF-a),interferon-(IFN-),and other inflammatory indicators of the study group were significantly better than those of the reference group(P<0.05).The total efficacy of treatment in the study group was significantly higher than that in the reference group(P<0.05).Furthermore,after treatment,the immunity indexes such as CD3+,CD4+,and CD8+of the study group were significantly better than those of the reference group,(P<0.05).Conclusion:Huanglian ointment is extremely effective for treating chronic eczema so this treatment program should be popularized.展开更多
Background:Interleukin 13 receptor subunit alpha 2(IL13RA2)plays an essential role in the progression of many cancers.However,the role of IL13RA2 in infantile haemangioma(IH)is still unknown.Materials and Methods:IL13...Background:Interleukin 13 receptor subunit alpha 2(IL13RA2)plays an essential role in the progression of many cancers.However,the role of IL13RA2 in infantile haemangioma(IH)is still unknown.Materials and Methods:IL13RA2 expression in IH tissues was analyzed using western blot,qRT-PCR,and immunofluorescence.The role of IL13RA2 in haemangioma-derived endothelial cells(HemECs)was determined following knockdown or overexpression of IL13RA2 using CCK-8,colony formation,apoptosis,wound healing,tubule formation,Transwell,and western blot.Results:IL13RA2 expression was upregulated in IH tissues.IL13RA2 overexpression promoted proliferation,migration,and invasion of HemECs and induced glycolysis,which was confirmed with a glycolysis inhibitor.Specifically,IL13RA2 interacted withβ-catenin and activated the Wnt/β-catenin pathway in HemECs,which were involved in the above-mentioned effects of IL13RA2.Conclusions:These findings revealed that targeting IL13RA2 is a potential therapeutic approach for IH.展开更多
Objective:To study the effects of Traditional Chinese Medicine Jianpi Chushi decoction and ointment on chronic eczema.Methods:DNCB acetone solution was used to sensitize the skin of back and ears of 36 rats in order t...Objective:To study the effects of Traditional Chinese Medicine Jianpi Chushi decoction and ointment on chronic eczema.Methods:DNCB acetone solution was used to sensitize the skin of back and ears of 36 rats in order to establish chronic eczema model.A total of 36 rats were divided into four groups of 9 randomly including oral medicine group,external inunctum group,combination therapy group,and model control group respectively.Besides,the blank group of 4 healthy rats were set.The oral medicine group was given Traditional Chinese Medicine Jianpi Chushi decoction [(Poria cocos,Chinese yam,Cortex dictamni,Zaocys dhumnade,Rhizoma atractylodis,Pericarpium citri reticulatae,Scutellaria baicalensis,Radix Sophorae Flavescentis,Raw Radix Paeoniae Alba,Licorice roots(Northwest Origin)] by gastric infusion(1.6 g/m L·5 m L/d); the external inunctum group was given Qingpeng ointment on the skin,the combination therapy group was given Jianpi Chushi decoction by gastric infusion and Qingpeng ointment combination therapy.The model control group was given normal saline(NS) of the same volume by gastric infusion and vaseline on skin.Continuous administration 15 d and stopped for 3 d.The thickness difference and weight difference of left and right ear of every group were measured and the degree of ear swelling were evaluated.The CD4^+ and CD8^+ content and the IL-2,IL-4 level of serum were detected,and the inflammatory cells counts of back skin were recorded.Results:After treatment,the degree of ear swelling of oral medicine group,external inunctum group and combination therapy group significant decreased compared with model control group(P<0.05).The CD4^+,CD8^+ cell content and IL-2 level of oral medicine group,external inunctum group,combination therapy group and model control group significant decreased compared with blank group,and IL-2 level and the inflammatory cells count increased.After 15 d of treatment,the CD4^+,CD8^+ cell content and IL-2 level of serum of oral medicine group,external inunctum group and combination therapy group raised and the IL-4 level and the inflammatory cells count had significant decreased compared with model control group,and the effect of combination therapy group was more obvious(P<0.05).Conclusions:Qral Jianpi Chushi decoction could treat chronic eczema effectively,and oral Chinese medicine combined with ointment could enhance and speed up the efficacy.展开更多
Eczema is a very common inflammatory skin disease characterized by patches of erythematous,itchy, cracked, and scaly skin.According to the 2010 Global Burden of Disease Study, the global prevalence of eczema is 3.33% ...Eczema is a very common inflammatory skin disease characterized by patches of erythematous,itchy, cracked, and scaly skin.According to the 2010 Global Burden of Disease Study, the global prevalence of eczema is 3.33% and the leading cause of skin condition-based disability-adjusted life years is eczema[1].The large health burden brought about by eczema suggests high direct medical costs and health care utilization[2].Thus, eczema prevention is of great importance in efforts to eliminate the public health burden of the disease.展开更多
The skin facilitates a number of key roles but its functioning can be impaired by disease. Atopic eczema is a chronic inflammatory disease where the skin barrier has become leaky, and inflammation occurs. It affects u...The skin facilitates a number of key roles but its functioning can be impaired by disease. Atopic eczema is a chronic inflammatory disease where the skin barrier has become leaky, and inflammation occurs. It affects up to 20% of children and 3% of adults worldwide, manifesting as red itchy patches of skin with varying severity. This review aims to investigate the leaky skin barrier and immune mechanisms from the perspective of potential novel treatments. The complexity of atopic eczema as a disease is what makes it difficult to treat. Genome-wide association studies have highlighted possible genetic variations associated with atopic eczema, however in some cases, individuals develop the disease without these genetic risk factors. Loss of function mutations in the filaggrin gene are one of these associations and this is plausible due to its key role in barrier function. The Th2 immune response is the link with regards to the immune mechanisms as atopic inflammation often occurs through increased levels of interleukin(IL)-4 and IL-13. Eczematous inflammation also creates susceptibility to colonisation and damage by bacteria such as Staphylococcus aureus. Potential novel treatments are becoming ever more specific, offering the hope of fewer side effects and better disease control. The best new treatments highlighted in this review target the immune response with human beta defensin 2, phosphodiesterase-4 inhibitors and monoclonal antibodies all showing promise.展开更多
BACKGROUND Tissue resident memory T(TRM)cells have been reported to play a significant role in the pathogenesis and relapse of chronic eczema.AIM To compare the efficacy and safety of the intralesional injection of 5-...BACKGROUND Tissue resident memory T(TRM)cells have been reported to play a significant role in the pathogenesis and relapse of chronic eczema.AIM To compare the efficacy and safety of the intralesional injection of 5-fluorouracil(5-FU)and triamcinolone(TA)with those associated with TA alone for the treatment of chronic eczema.METHODS A total of 168 patients were randomized to 5-FU+TA or TA groups and received a one-time intralesional injection of 5-FU+TA or TA only.Biopsies were collected before and 2 wk after treatment for evaluation of histopathological changes.All patients were followed up monthly for up to 1 year.RESULTS No serious adverse event was observed in either group.Although the mean atopic dermatitis severity index scores and effective rates were comparable between the two groups after 2 wk of treatment,the relapse rate was significantly lower in the 5-FU+TA group than in the TA group.Histological examination showed significantly fewer CD8^(+)and CD103^(+)T cells but not CD4^(+)T cells in the 5-FU+TA group.CONCLUSION One-time intralesional injection of 5-FU+TA is effective and safe for chronic eczema treatment and can further reduce the retention of T_(RM) cells in the lesional skin and the relapse rate of chronic eczema.展开更多
Chronic eczema is a kind of skin disease which is difficult to treat.It is easy to occur repeatedly,and itching is intolerable during the attack,which seriously affects the daily life of patients.Through the review of...Chronic eczema is a kind of skin disease which is difficult to treat.It is easy to occur repeatedly,and itching is intolerable during the attack,which seriously affects the daily life of patients.Through the review of the treatment of chronic eczema with Mongolian medicine Cymbaria mongolica Maxim.,it has the advantages of improving the cure rate and the quality of life,and reducing the recurrence rate,and so on,which provides a scientific basis for the promotion and further research of traditional Mongolian medicine Cymbaria mongolica Maxim.展开更多
The effect of topical propranolol gel on the levels of plasma renin,angiotensin Ⅱ(ATⅡ) and vascular endothelial growth factor(VEGF) in superficial infantile hemangiomas(IHs) was investigated. Thirty-three cons...The effect of topical propranolol gel on the levels of plasma renin,angiotensin Ⅱ(ATⅡ) and vascular endothelial growth factor(VEGF) in superficial infantile hemangiomas(IHs) was investigated. Thirty-three consecutive children with superficial IHs were observed pre-treatment,1 and 3 months after application of topical propranolol gel for the levels of plasma renin,AT Ⅱand VEGF in Department of General Surgery of Dongfang Hospital from February 2013 to February 2014. The plasma results of IHs were compared with those of 30 healthy infants of the same age from out-patient department. The clinical efficiency of topical propranolol gel at 1st,and 3rd month after application was 45%,and 82% respectively. The levels of plasma renin,AT and VEGF in patients preⅡ-treatment were higher than those in healthy infants(565.86±49.66 vs. 18.19±3.56,3.20±0.39 vs 0.30±0.03,and 362.16±27.29 vs. 85.63±8.14,P〈0.05). The concentrations of VEGF and renin at 1st and 3rd month after treatment were decreased obviously as compared with those pre-treatment(271.51±18.59 vs. 362.16±27.29,and 405.18±42.52 vs. 565.86±49.66 P〈0.05; 240.80±19.89 vs. 362.16±27.29,and 325.90±35.78 vs. 565.86±49.66,P〈0.05,respectively),but the levels of plasma AT declined slightly Ⅱ(2.96±0.37 vs. 3.20±0.39,and 2.47±0.27 vs. 3.20±0.39,P〉0.05). It was indicated that the increased renin,AT Ⅱand VEGF might play a role in the onset or development of IHs. Propranolol gel may suppress the proliferation of IHs by reducing VEGF.展开更多
Objective:In this study,we examined the effects of Shizhenqing granule(SZQG)on hypothalamicpituitary-adrenal(HPA)axis and serum inflammatory factors in a rat model of chronic eczema,in order to explore the mechanism o...Objective:In this study,we examined the effects of Shizhenqing granule(SZQG)on hypothalamicpituitary-adrenal(HPA)axis and serum inflammatory factors in a rat model of chronic eczema,in order to explore the mechanism of action of SZQG in treatment of this disease.Methods:Sixty SpragueeDawley male rats were randomly divided into six groups(with 10 rats per group):blank group;model group;positive control group(prednisone);and the low-,medium-,and high-dose SZQG groups.Except for the blank group,rats in all other groups were treated with 2,4-dinitrochlorobenzene to induce chronic eczema.These rats were administered prednisone or SZQG for 7 consecutive days after successful establishment of the chronic eczema model,and samples were collected 12 h after the last administration.The degree of skin lesions and the changes in serum levels of corticotropin-releasing hormone(CRH),adrenocorticotropic hormone(ACTH),cortisol(CORT),interleukin(IL)-4,interferon(IFN)-g,IL-25,and IL-31 among the groups were compared.Results:SZQG effectively increased the levels of CRH,ACTH,and CORT,which decreased in the serum of rats with chronic eczema,stimulated the function of the HPA axis,and promoted the expression of glucocorticoids.SZQG reduced the serum levels of inflammatory factors including IL-4,IL-25 and IL-31,which were overexpressed in rats with chronic eczema,and increased those of anti-inflammatory factor IFN-g,thereby alleviating the inflammatory symptoms and itching,and ameliorating the clinical symptoms of chronic eczema.Conclusion:SZQG effectively alleviates skin lesions in the chronic eczema rat model by stimulating the function of the HPA axis.展开更多
Background:Nummular eczema(NE)is an inflammatory skin disease characterized by pruritic coinshaped lesions and a long-lasting and easy-relapsing course,which severely decreases patients’quality of life.This case was ...Background:Nummular eczema(NE)is an inflammatory skin disease characterized by pruritic coinshaped lesions and a long-lasting and easy-relapsing course,which severely decreases patients’quality of life.This case was designed to observe the effects of specific acupuncture techniques on pruritic NE management.Case presentation:A 22-year-old female was first diagnosed with pruritic NE three years earlier.No allergies were found in the patch test;while emotional stress would trigger and aggravate the NE.External application of 0.1%tacrolimus failed to reverse this condition over a long period of treatment.Treatment&outcomes:An individualized acupuncture treatment protocol was identified.Half needling and encircling needling were applied at local eczematous lesions,with routine needling at meridian points,once per week,for 12 treatment sessions.All outcome measures,including the Eczema Area and Severity Index,Visual Analogue Scale score for pruritus,Self-Rating Anxiety Score,and Dermatology Quality Life Index,substantially improved over 6 months from pre-treatment to 3 months posttreatment.Conclusion:Acupuncture might be a promising non-pharmacological treatment method for patients with NE,especially for those with emotional stress.A randomized controlled trial with an adequate sample size and rigorous study design is required to verify the results of the study.展开更多
Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile gl...Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile glaucoma in an infant,accompanying with an effective method of both diagnosis and treatment.展开更多
AIM: To evaluate long term follow-up (10y) of 6 muscle surgical approach in essential infantile esotropia (EIE).METHODS: A 6 muscle approach to EIE was retrospectively evaluated in patients with inferior oblique...AIM: To evaluate long term follow-up (10y) of 6 muscle surgical approach in essential infantile esotropia (EIE).METHODS: A 6 muscle approach to EIE was retrospectively evaluated in patients with inferior oblique (IO) hyperfunction and lateral rectus (LR) pseudoparalysis, who underwent surgery at different ages. Different clinical characters were analyzed pre- and postoperatively, in patients who underwent a 6 muscles approach ≤4 years of age. All patients underwent a multiple muscles approach: bilateral medial recti (MR) recession (4-5 mm), bilateral LR resection (lower than 7 mm) and bilateral IO recession and anteroposition. Of 108 children with preoperative angle ≥+30 prism diopters (PD) and IO hyperfunction were selected from larger cohort of patients (n=213, 103 females and 110 males) after excluding patients with: angle variability, who underwent reoperation and with incomplete follow up. Preoperative assessment and complete orthoptic examination were performed. Follow-up was performed 3mo, 2, 5 and 10y after surgery. Statistical analysis was performes using SAS statistical software package (version 9.1, SAS Institute Inc., Cary, NC, USA).RESULTS: Ten years follow up data analysis showed the following percentage of orthotropic patients: (0 PD): 3mo, 22.2%; 2y, 16.7%; 5y, 25.0% and 10y, 27.8%. A slight, significant (P〈0.01), increase of 2y follow up residual deviation was found when compared to 3mo one. Stationary surgical results is reported during time, with a trend of mean residual deviation reduction (P=0.04).CONCLUSION: Our results confirm the reliability of multiple muscles surgical approach in the treatment of patients affected by EIE with OI hyperfunction.展开更多
There is insufficient epidemiological evidence on the relationship between autism spectrum disorder (ASD) and allergic diseases. We performed a cross-sectional survey to elucidate the associations between them using v...There is insufficient epidemiological evidence on the relationship between autism spectrum disorder (ASD) and allergic diseases. We performed a cross-sectional survey to elucidate the associations between them using validated screening tools. The participants were children aged 3 - 6 years attending kindergarten or nursery school in Shika Town, Japan (n = 417;valid response rate = 80.4%). Autism spectrum features were scored on the Social Communication Questionnaire (SCQ). Allergic symptoms (asthma, allergic rhinoconjunctivitis, and eczema) were determined according to the criteria of the International Study of Asthma and Allergies in Childhood. A total of 15 children (4.5%) had an SCQ score of 11 points or higher. The prevalence of symptoms was 14.7% for asthma, and 5.3% for allergic rhinoconjunctivitis, and 11.4% for eczema. Logistic regression indicated that symptoms of eczema were significantly associated with SCQ scores of 11 points or higher [odds ratio (OR), 4.38;95% confidence interval (CI), 1.41 - 13.59]. The association persisted after adjustment for age, sex, and BMI (OR, 3.84;95% CI, 1.20 - 12.24). Moreover, asthmatic symptoms were significantly associated with male sex (OR, 2.09;95% CI, 1.12 - 3.92) and overweight status (OR, 2.45;95% CI, 1.03 - 5.83). This suggests that higher SCQ scores, which imply more autism spectrum features, are associated with higher prevalence of eczema symptoms. While no causal relationships can be made, ASD might be associated with eczema.展开更多
Deleterious mutations in the RUNX1 gene cause hereditary leukemia due to a rare syndrome called Familial platelet Disorder with Associated Myeloid Malignancy (FPDMM). We describe the characteristics of a family with F...Deleterious mutations in the RUNX1 gene cause hereditary leukemia due to a rare syndrome called Familial platelet Disorder with Associated Myeloid Malignancy (FPDMM). We describe the characteristics of a family with FPDMM due to a novel RUNX1 mutation (L472X), located in the most 3-prime end of the gene reported to date. Our 36-year-old proband presented with incidentally detected thrombocytopenia and a family history suggestive of FPDMM. Contrary to previously described families, affected members of our kindred express an eczematous phenotype, reportedly most severe in members who develop leukemia. Pedigree analysis shows that the L472X mutation tracks with thrombocytopenia, acute leukemia, and eczema. The L472X mutation produces a stably expressed RUNX1 protein product with a corresponding decrease in wild type RUNX1 expression. Our data supports the inclusion of eczema in the FPDMM phenotype and suggests the possibility that the RUNX1 L472X mutant causes the type of dominant negative affect that is associated with an elevated risk of leukemia in FPDMM families.展开更多
The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome...The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often involves in eyes.In this report,we studied a 9-year-old girl with CINCA.The eyes were also involved and presented bilateral papilledema.Genetic testing revealed that the symptoms were caused by a novel gene mutation site(c.913G>A,p.D305N)in conservative domain exon-3 of NLRP3 which is gain-function gene of CINCA.The patient had the characteristic facial features,frontal fossa and saddle nose,manifested the generalized urticaria-like skin rash at two weeks after birth,periodic fever 6 months after birth,sensorineural deafness at 7 years old,and bilateral papilledema,aseptic meningitis and knee arthropathy at 9 years old.White cell counts,C-reactive protein increased and intracranial pressure raised to 300 mmH2O.The meningeal thickening enhanced by gadolinium in magnetic resonance imaging(MRI).Based on clinical features and genetic test,the girl was diagnosed bilateral papilledema secondary to CINCA and administered prednisone and lowered intracranial pressure medicine to resolve symptoms.With 3-year follow-up,patient had no inflammatory flare-up with visual acuity improvement.The finding of novel genetic mutation site(p.D305N)in NLRP3 gene expanded genotype spectrum associated with CINCA.This case also expanded the cause spectrum of papilledema and it highlighted systemic disease history for patients with bilateral papilledema.展开更多
Eczema herpeticum is a severe infectious eruption caused by Herpes group viruses. The disease usually occurs in the patients with pre existing dermatosis, expecially atopic dermatitis. A three-year-old boy who has hig...Eczema herpeticum is a severe infectious eruption caused by Herpes group viruses. The disease usually occurs in the patients with pre existing dermatosis, expecially atopic dermatitis. A three-year-old boy who has high fever and widespread skin eruptions with vesiculopustuler eruptions, erosions and ulcers was brought out to our emergency clinic. The patient had no pre-existing dermatosis, but he had suffered from chicken-pox. As serological, the antibodies of Varicella-IgM and Herpes simplex-IgM were positive. Eczema Herpeticum which occurred on a chicken-pox was diagnosed according to his history, physical examination, laboratory and pathologic findings. Acyclovir and empiric antibiotherapy together with the symptomatic therapy were used for treatment. His skin lesions recovered in one week after these therapies. The aim of this case-report is to emphasize the features of eczema herpeticum which occurred on a pre-existing varicella eruption.展开更多
基金This work was supported by the National Natural Science Foundation (82273506,82273508)the Hunan Provincial Health Commission Scientific Research Plan Project (D202304128334),China。
文摘Objective:The causal relationship between eczema and autoimmune diseases has not been previously reported.This study aims to evaluate the causal relationship between eczema and autoimmune diseases.Methods:The two‐sample Mendelian randomization(MR)method was used to assess the causal effect of eczema on autoimmune diseases.Summary data from the Genome-Wide Association Study Catalog(GWAS)were obtained from the Integrative Epidemiology Unit(IEU)database.For eczema and autoimmune diseases,genetic instrument variants(GIVs)were identified according to the significant difference(P<5×10−8).Causal effect estimates were generated using the inverse‐variance weighted(IVW)method.MR Egger,maximum likelihood,MR-PRESSO,and MR-RAPS methods were used for alternative analyses.Sensitivity tests,including heterogeneity,horizontal pleiotropy,and leave-one-out analyses,were performed.Finally,reverse causality was assessed.Results:Genetic susceptibility to eczema was associated with an increased risk of Crohn’s disease(OR=1.444,95%CI 1.199 to 1.738,P<0.001)and ulcerative colitis(OR=1.002,95%CI 1.001 to 1.003,P=0.002).However,no causal relationship was found for the other 6 autoimmune diseases,including systemic lupus erythematosus(SLE)(OR=0.932,P=0.401),bullous pemphigoid(BP)(OR=1.191,P=0.642),vitiligo(OR=1.000,P=0.327),multiple sclerosis(MS)(OR=1.000,P=0.965),ankylosing spondylitis(AS)(OR=1.001,P=0.121),rheumatoid arthritis(RA)(OR=1.000,P=0.460).Additionally,no reverse causal relationship was found between autoimmune diseases and eczema.Conclusion:Eczema is associated with an increased risk of Crohn’s disease and ulcerative colitis.No causal relationship is found between eczema and SLE,MS,AS,RA,BP,or vitiligo.
基金Supported by Jinshan District Medical and Health Science and Technology Innovation Funding Project,No.2021-3-07.
文摘BACKGROUND Chronic eczema significantly impacts daily life,social interactions,and quality of life;however,no curative treatment has been identified.AIM To determine the clinical efficacy of acupoint injection for chronic eczema and its influence on peripheral blood T cells.METHODS Eighty patients with chronic eczema treated at our hospital between June 2022 and March 2023 were randomly assigned to a control group(n=40),which received conventional Western medicine treatment,or an observation group(n=40),which received routine Western medicine treatment plus acupoint injection of triamcinolone acetonide.Response and adverse reaction rates,as well as differences in the levels of serum cytokines IFN-γ,IL-2,IL-4,and IL-10 before and after treatment were investigated.RESULTS No difference in overall response rates were found between the observation and control groups(100%vs 90%,respectively;P>0.05);however,the observation group had a higher marked response rate than the control group(87.5%vs 52.5%;P<0.05).Both groups had decreased Eczema Area and Severity Index scores and increased pruritus after treatment(P<0.05),particularly in the observation group(P<0.05).The observation group had an adverse reaction rate of 2.5%(1/40),which did not differ significantly from that of the control group(P>0.05).The observation group exhibited higher post-treatment INF-γand IL-2 but lower IL-4 levels than the control group(P<0.05);however,no significant inter-group difference was observed in post-treatment IL-10 levels(P>0.05).CONCLUSION Acupoint injection of triamcinolone acetonide is safe and effective in treating chronic eczema.Its therapeutic mechanism is related to the regulation of peripheral blood T cell levels,inhibition of inflammatory reactions,and mitigation of immune imbalance.
文摘Background: One of the most common viral infections occurring in atopic dermatitis (AD) patients is eczema herpeticum (EH): herpes simplex virus (HSV) skin infection. Despite being comparatively uncommon affecting just 3% of AD patients, EH can progress from a local disease to a potentially fatal systemic infection. Up till now, the pathophysiology of EH is mainly unclear. Case Report: We report the case of a 2-year-old boy who was well-vaccinated and had a history of untreated atopic dermatitis from infancy and presented to the emergency department with increasingly itchy diffuse lesions, red eyes, profuse tearing, chills and malaise. The diagnosis of EH with bilateral ocular involvement was highly suspected. The patient had received intravenous acyclovir with a notable clinical improvement and a complete remission at the two-week follow-up.
基金supported by the National Natural Science Foundation of China(no.82374229 and 82172839).
文摘Background:Both eczema and tumor are associated with immune disorders.Although several investigations have observed the rela-tionship between eczema and certain cancers,evidence for causality is lacking.Methods:We conducted a two-sample Mendelian randomization(MR)study to examine and explore the genetic association between eczema and pan-cancers.Upon satisfying the three core assumptions of MR,we analyzed the causality between eczema and 15 site-specific cancers utilizing an inverse variance weighted method.We verified the results through a series of sensitivity and reverse direction analyses.The exposure and outcome datasets were substituted from the FinnGen and genome-wide association studies catalog data-bases.A meta-analysis on primary and validation analyses was performed to combine the estimates of MR study.Results:Based on the MR analysis results,eczema was associated with an increased risk of lung cancer(odds ratio[OR]=1.0427,95%confidence interval[CI]=1.0082–1.0783,P=0.0148)and brain cancer(OR=1.0285,95%CI=1.0120–1.0452,P=0.0007)and de-creased risk of colorectal cancer(OR=0.9324,95%CI=0.8774–0.9909,P=0.0242)and malignant neoplasm of the kidney(OR=0.9323,95%CI=0.8834–0.9839,P=0.0108).The sensitivity analysis indicated that the results were stable and reliable,and the reverse MR analyses demonstrated no causation between the cancers of interest and eczema.Conclusions:Our results identified eczema as a genetic risk factor for lung and brain cancer and a protective factor for colorectal cancer and malignant neoplasm of the kidney.No connection was observed between eczema and other cancers.Further evidence from epide-miological and mechanistic studies is needed to elucidate these findings in detail.
文摘Objective:To investigate and analyze the clinical efficacy of Huanglian ointment in the treatment of chronic eczema.Methods:114 cases of chronic eczema patients admitted to the Department of Dermatology of our hospital from January 2023 to January 2024 were selected as the study subjects.They were divided into a study group(n=57)and a reference group(n=57)using the double-blind method.The study group was treated with dialyzed Huanglian ointment,while the reference group was treated with conventional treatment.Symptom scores,inflammatory levels,treatment effects,and immune indexes of the two groups were similar before treatment.Results:After treatment,the symptom scores of the study group were significantly lower than those in the reference group(P<0.05).Besides,the interleukin-2(IL-2),tumor necrosis factor-a(TNF-a),interferon-(IFN-),and other inflammatory indicators of the study group were significantly better than those of the reference group(P<0.05).The total efficacy of treatment in the study group was significantly higher than that in the reference group(P<0.05).Furthermore,after treatment,the immunity indexes such as CD3+,CD4+,and CD8+of the study group were significantly better than those of the reference group,(P<0.05).Conclusion:Huanglian ointment is extremely effective for treating chronic eczema so this treatment program should be popularized.
文摘Background:Interleukin 13 receptor subunit alpha 2(IL13RA2)plays an essential role in the progression of many cancers.However,the role of IL13RA2 in infantile haemangioma(IH)is still unknown.Materials and Methods:IL13RA2 expression in IH tissues was analyzed using western blot,qRT-PCR,and immunofluorescence.The role of IL13RA2 in haemangioma-derived endothelial cells(HemECs)was determined following knockdown or overexpression of IL13RA2 using CCK-8,colony formation,apoptosis,wound healing,tubule formation,Transwell,and western blot.Results:IL13RA2 expression was upregulated in IH tissues.IL13RA2 overexpression promoted proliferation,migration,and invasion of HemECs and induced glycolysis,which was confirmed with a glycolysis inhibitor.Specifically,IL13RA2 interacted withβ-catenin and activated the Wnt/β-catenin pathway in HemECs,which were involved in the above-mentioned effects of IL13RA2.Conclusions:These findings revealed that targeting IL13RA2 is a potential therapeutic approach for IH.
文摘Objective:To study the effects of Traditional Chinese Medicine Jianpi Chushi decoction and ointment on chronic eczema.Methods:DNCB acetone solution was used to sensitize the skin of back and ears of 36 rats in order to establish chronic eczema model.A total of 36 rats were divided into four groups of 9 randomly including oral medicine group,external inunctum group,combination therapy group,and model control group respectively.Besides,the blank group of 4 healthy rats were set.The oral medicine group was given Traditional Chinese Medicine Jianpi Chushi decoction [(Poria cocos,Chinese yam,Cortex dictamni,Zaocys dhumnade,Rhizoma atractylodis,Pericarpium citri reticulatae,Scutellaria baicalensis,Radix Sophorae Flavescentis,Raw Radix Paeoniae Alba,Licorice roots(Northwest Origin)] by gastric infusion(1.6 g/m L·5 m L/d); the external inunctum group was given Qingpeng ointment on the skin,the combination therapy group was given Jianpi Chushi decoction by gastric infusion and Qingpeng ointment combination therapy.The model control group was given normal saline(NS) of the same volume by gastric infusion and vaseline on skin.Continuous administration 15 d and stopped for 3 d.The thickness difference and weight difference of left and right ear of every group were measured and the degree of ear swelling were evaluated.The CD4^+ and CD8^+ content and the IL-2,IL-4 level of serum were detected,and the inflammatory cells counts of back skin were recorded.Results:After treatment,the degree of ear swelling of oral medicine group,external inunctum group and combination therapy group significant decreased compared with model control group(P<0.05).The CD4^+,CD8^+ cell content and IL-2 level of oral medicine group,external inunctum group,combination therapy group and model control group significant decreased compared with blank group,and IL-2 level and the inflammatory cells count increased.After 15 d of treatment,the CD4^+,CD8^+ cell content and IL-2 level of serum of oral medicine group,external inunctum group and combination therapy group raised and the IL-4 level and the inflammatory cells count had significant decreased compared with model control group,and the effect of combination therapy group was more obvious(P<0.05).Conclusions:Qral Jianpi Chushi decoction could treat chronic eczema effectively,and oral Chinese medicine combined with ointment could enhance and speed up the efficacy.
基金supported by the Key Project of Natural Science Funds of China [No.81230066]the National Natural Science Fund Projects of China [No.81473043]
文摘Eczema is a very common inflammatory skin disease characterized by patches of erythematous,itchy, cracked, and scaly skin.According to the 2010 Global Burden of Disease Study, the global prevalence of eczema is 3.33% and the leading cause of skin condition-based disability-adjusted life years is eczema[1].The large health burden brought about by eczema suggests high direct medical costs and health care utilization[2].Thus, eczema prevention is of great importance in efforts to eliminate the public health burden of the disease.
文摘The skin facilitates a number of key roles but its functioning can be impaired by disease. Atopic eczema is a chronic inflammatory disease where the skin barrier has become leaky, and inflammation occurs. It affects up to 20% of children and 3% of adults worldwide, manifesting as red itchy patches of skin with varying severity. This review aims to investigate the leaky skin barrier and immune mechanisms from the perspective of potential novel treatments. The complexity of atopic eczema as a disease is what makes it difficult to treat. Genome-wide association studies have highlighted possible genetic variations associated with atopic eczema, however in some cases, individuals develop the disease without these genetic risk factors. Loss of function mutations in the filaggrin gene are one of these associations and this is plausible due to its key role in barrier function. The Th2 immune response is the link with regards to the immune mechanisms as atopic inflammation often occurs through increased levels of interleukin(IL)-4 and IL-13. Eczematous inflammation also creates susceptibility to colonisation and damage by bacteria such as Staphylococcus aureus. Potential novel treatments are becoming ever more specific, offering the hope of fewer side effects and better disease control. The best new treatments highlighted in this review target the immune response with human beta defensin 2, phosphodiesterase-4 inhibitors and monoclonal antibodies all showing promise.
基金Pudong New District Science and Technology Development Fund People’s Livelihood Scientific Research Special Fund(No.PKJ2018-Y42)the Shanghai Pudong New District Health System Discipline Construction Project(No.PWZzk 2017-14)the School-level Scientific Research Project of Shanghai University of Medicine and Health Sciences Affiliated with Zhoupu Hospital(No.ZPXM-2019A-13).
文摘BACKGROUND Tissue resident memory T(TRM)cells have been reported to play a significant role in the pathogenesis and relapse of chronic eczema.AIM To compare the efficacy and safety of the intralesional injection of 5-fluorouracil(5-FU)and triamcinolone(TA)with those associated with TA alone for the treatment of chronic eczema.METHODS A total of 168 patients were randomized to 5-FU+TA or TA groups and received a one-time intralesional injection of 5-FU+TA or TA only.Biopsies were collected before and 2 wk after treatment for evaluation of histopathological changes.All patients were followed up monthly for up to 1 year.RESULTS No serious adverse event was observed in either group.Although the mean atopic dermatitis severity index scores and effective rates were comparable between the two groups after 2 wk of treatment,the relapse rate was significantly lower in the 5-FU+TA group than in the TA group.Histological examination showed significantly fewer CD8^(+)and CD103^(+)T cells but not CD4^(+)T cells in the 5-FU+TA group.CONCLUSION One-time intralesional injection of 5-FU+TA is effective and safe for chronic eczema treatment and can further reduce the retention of T_(RM) cells in the lesional skin and the relapse rate of chronic eczema.
文摘Chronic eczema is a kind of skin disease which is difficult to treat.It is easy to occur repeatedly,and itching is intolerable during the attack,which seriously affects the daily life of patients.Through the review of the treatment of chronic eczema with Mongolian medicine Cymbaria mongolica Maxim.,it has the advantages of improving the cure rate and the quality of life,and reducing the recurrence rate,and so on,which provides a scientific basis for the promotion and further research of traditional Mongolian medicine Cymbaria mongolica Maxim.
基金supported by Key Project of Social Development in Science and Technology Bureau of Fujian Province,China(No.2011Y0042)
文摘The effect of topical propranolol gel on the levels of plasma renin,angiotensin Ⅱ(ATⅡ) and vascular endothelial growth factor(VEGF) in superficial infantile hemangiomas(IHs) was investigated. Thirty-three consecutive children with superficial IHs were observed pre-treatment,1 and 3 months after application of topical propranolol gel for the levels of plasma renin,AT Ⅱand VEGF in Department of General Surgery of Dongfang Hospital from February 2013 to February 2014. The plasma results of IHs were compared with those of 30 healthy infants of the same age from out-patient department. The clinical efficiency of topical propranolol gel at 1st,and 3rd month after application was 45%,and 82% respectively. The levels of plasma renin,AT and VEGF in patients preⅡ-treatment were higher than those in healthy infants(565.86±49.66 vs. 18.19±3.56,3.20±0.39 vs 0.30±0.03,and 362.16±27.29 vs. 85.63±8.14,P〈0.05). The concentrations of VEGF and renin at 1st and 3rd month after treatment were decreased obviously as compared with those pre-treatment(271.51±18.59 vs. 362.16±27.29,and 405.18±42.52 vs. 565.86±49.66 P〈0.05; 240.80±19.89 vs. 362.16±27.29,and 325.90±35.78 vs. 565.86±49.66,P〈0.05,respectively),but the levels of plasma AT declined slightly Ⅱ(2.96±0.37 vs. 3.20±0.39,and 2.47±0.27 vs. 3.20±0.39,P〉0.05). It was indicated that the increased renin,AT Ⅱand VEGF might play a role in the onset or development of IHs. Propranolol gel may suppress the proliferation of IHs by reducing VEGF.
基金This study was supported by the Beijing municipal project(2010071620067)Research fund from Qiannan Medical College for Nationalities(QNYZ2018030).
文摘Objective:In this study,we examined the effects of Shizhenqing granule(SZQG)on hypothalamicpituitary-adrenal(HPA)axis and serum inflammatory factors in a rat model of chronic eczema,in order to explore the mechanism of action of SZQG in treatment of this disease.Methods:Sixty SpragueeDawley male rats were randomly divided into six groups(with 10 rats per group):blank group;model group;positive control group(prednisone);and the low-,medium-,and high-dose SZQG groups.Except for the blank group,rats in all other groups were treated with 2,4-dinitrochlorobenzene to induce chronic eczema.These rats were administered prednisone or SZQG for 7 consecutive days after successful establishment of the chronic eczema model,and samples were collected 12 h after the last administration.The degree of skin lesions and the changes in serum levels of corticotropin-releasing hormone(CRH),adrenocorticotropic hormone(ACTH),cortisol(CORT),interleukin(IL)-4,interferon(IFN)-g,IL-25,and IL-31 among the groups were compared.Results:SZQG effectively increased the levels of CRH,ACTH,and CORT,which decreased in the serum of rats with chronic eczema,stimulated the function of the HPA axis,and promoted the expression of glucocorticoids.SZQG reduced the serum levels of inflammatory factors including IL-4,IL-25 and IL-31,which were overexpressed in rats with chronic eczema,and increased those of anti-inflammatory factor IFN-g,thereby alleviating the inflammatory symptoms and itching,and ameliorating the clinical symptoms of chronic eczema.Conclusion:SZQG effectively alleviates skin lesions in the chronic eczema rat model by stimulating the function of the HPA axis.
文摘Background:Nummular eczema(NE)is an inflammatory skin disease characterized by pruritic coinshaped lesions and a long-lasting and easy-relapsing course,which severely decreases patients’quality of life.This case was designed to observe the effects of specific acupuncture techniques on pruritic NE management.Case presentation:A 22-year-old female was first diagnosed with pruritic NE three years earlier.No allergies were found in the patch test;while emotional stress would trigger and aggravate the NE.External application of 0.1%tacrolimus failed to reverse this condition over a long period of treatment.Treatment&outcomes:An individualized acupuncture treatment protocol was identified.Half needling and encircling needling were applied at local eczematous lesions,with routine needling at meridian points,once per week,for 12 treatment sessions.All outcome measures,including the Eczema Area and Severity Index,Visual Analogue Scale score for pruritus,Self-Rating Anxiety Score,and Dermatology Quality Life Index,substantially improved over 6 months from pre-treatment to 3 months posttreatment.Conclusion:Acupuncture might be a promising non-pharmacological treatment method for patients with NE,especially for those with emotional stress.A randomized controlled trial with an adequate sample size and rigorous study design is required to verify the results of the study.
基金Supported by the Natural Science Foundation of China(No.81370913)
文摘Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile glaucoma in an infant,accompanying with an effective method of both diagnosis and treatment.
文摘AIM: To evaluate long term follow-up (10y) of 6 muscle surgical approach in essential infantile esotropia (EIE).METHODS: A 6 muscle approach to EIE was retrospectively evaluated in patients with inferior oblique (IO) hyperfunction and lateral rectus (LR) pseudoparalysis, who underwent surgery at different ages. Different clinical characters were analyzed pre- and postoperatively, in patients who underwent a 6 muscles approach ≤4 years of age. All patients underwent a multiple muscles approach: bilateral medial recti (MR) recession (4-5 mm), bilateral LR resection (lower than 7 mm) and bilateral IO recession and anteroposition. Of 108 children with preoperative angle ≥+30 prism diopters (PD) and IO hyperfunction were selected from larger cohort of patients (n=213, 103 females and 110 males) after excluding patients with: angle variability, who underwent reoperation and with incomplete follow up. Preoperative assessment and complete orthoptic examination were performed. Follow-up was performed 3mo, 2, 5 and 10y after surgery. Statistical analysis was performes using SAS statistical software package (version 9.1, SAS Institute Inc., Cary, NC, USA).RESULTS: Ten years follow up data analysis showed the following percentage of orthotropic patients: (0 PD): 3mo, 22.2%; 2y, 16.7%; 5y, 25.0% and 10y, 27.8%. A slight, significant (P〈0.01), increase of 2y follow up residual deviation was found when compared to 3mo one. Stationary surgical results is reported during time, with a trend of mean residual deviation reduction (P=0.04).CONCLUSION: Our results confirm the reliability of multiple muscles surgical approach in the treatment of patients affected by EIE with OI hyperfunction.
文摘There is insufficient epidemiological evidence on the relationship between autism spectrum disorder (ASD) and allergic diseases. We performed a cross-sectional survey to elucidate the associations between them using validated screening tools. The participants were children aged 3 - 6 years attending kindergarten or nursery school in Shika Town, Japan (n = 417;valid response rate = 80.4%). Autism spectrum features were scored on the Social Communication Questionnaire (SCQ). Allergic symptoms (asthma, allergic rhinoconjunctivitis, and eczema) were determined according to the criteria of the International Study of Asthma and Allergies in Childhood. A total of 15 children (4.5%) had an SCQ score of 11 points or higher. The prevalence of symptoms was 14.7% for asthma, and 5.3% for allergic rhinoconjunctivitis, and 11.4% for eczema. Logistic regression indicated that symptoms of eczema were significantly associated with SCQ scores of 11 points or higher [odds ratio (OR), 4.38;95% confidence interval (CI), 1.41 - 13.59]. The association persisted after adjustment for age, sex, and BMI (OR, 3.84;95% CI, 1.20 - 12.24). Moreover, asthmatic symptoms were significantly associated with male sex (OR, 2.09;95% CI, 1.12 - 3.92) and overweight status (OR, 2.45;95% CI, 1.03 - 5.83). This suggests that higher SCQ scores, which imply more autism spectrum features, are associated with higher prevalence of eczema symptoms. While no causal relationships can be made, ASD might be associated with eczema.
文摘Deleterious mutations in the RUNX1 gene cause hereditary leukemia due to a rare syndrome called Familial platelet Disorder with Associated Myeloid Malignancy (FPDMM). We describe the characteristics of a family with FPDMM due to a novel RUNX1 mutation (L472X), located in the most 3-prime end of the gene reported to date. Our 36-year-old proband presented with incidentally detected thrombocytopenia and a family history suggestive of FPDMM. Contrary to previously described families, affected members of our kindred express an eczematous phenotype, reportedly most severe in members who develop leukemia. Pedigree analysis shows that the L472X mutation tracks with thrombocytopenia, acute leukemia, and eczema. The L472X mutation produces a stably expressed RUNX1 protein product with a corresponding decrease in wild type RUNX1 expression. Our data supports the inclusion of eczema in the FPDMM phenotype and suggests the possibility that the RUNX1 L472X mutant causes the type of dominant negative affect that is associated with an elevated risk of leukemia in FPDMM families.
文摘The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often involves in eyes.In this report,we studied a 9-year-old girl with CINCA.The eyes were also involved and presented bilateral papilledema.Genetic testing revealed that the symptoms were caused by a novel gene mutation site(c.913G>A,p.D305N)in conservative domain exon-3 of NLRP3 which is gain-function gene of CINCA.The patient had the characteristic facial features,frontal fossa and saddle nose,manifested the generalized urticaria-like skin rash at two weeks after birth,periodic fever 6 months after birth,sensorineural deafness at 7 years old,and bilateral papilledema,aseptic meningitis and knee arthropathy at 9 years old.White cell counts,C-reactive protein increased and intracranial pressure raised to 300 mmH2O.The meningeal thickening enhanced by gadolinium in magnetic resonance imaging(MRI).Based on clinical features and genetic test,the girl was diagnosed bilateral papilledema secondary to CINCA and administered prednisone and lowered intracranial pressure medicine to resolve symptoms.With 3-year follow-up,patient had no inflammatory flare-up with visual acuity improvement.The finding of novel genetic mutation site(p.D305N)in NLRP3 gene expanded genotype spectrum associated with CINCA.This case also expanded the cause spectrum of papilledema and it highlighted systemic disease history for patients with bilateral papilledema.
文摘Eczema herpeticum is a severe infectious eruption caused by Herpes group viruses. The disease usually occurs in the patients with pre existing dermatosis, expecially atopic dermatitis. A three-year-old boy who has high fever and widespread skin eruptions with vesiculopustuler eruptions, erosions and ulcers was brought out to our emergency clinic. The patient had no pre-existing dermatosis, but he had suffered from chicken-pox. As serological, the antibodies of Varicella-IgM and Herpes simplex-IgM were positive. Eczema Herpeticum which occurred on a chicken-pox was diagnosed according to his history, physical examination, laboratory and pathologic findings. Acyclovir and empiric antibiotherapy together with the symptomatic therapy were used for treatment. His skin lesions recovered in one week after these therapies. The aim of this case-report is to emphasize the features of eczema herpeticum which occurred on a pre-existing varicella eruption.