Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population

Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris(IV).To study the genetics of FLG mutations in Southern Chinese patients with IV. We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom? MassARRAY? system. The null allele frequency of 3321delA was 52.31%(34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.

A Unique Case? Darier’s Disease Presented as Porcupine-Like Appearance and the Observation on Acitretin Treatment

Dyskeratosis follicularis (Darier’s disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associated findings include nail abnormalities. A 3-year-old boy presented with porcupine-like appearance for 2 years. The lesion from the back was taken for light microscopy and electron microscopy. He was treated with acitretin (0.31 mg/d to 0.66 mg/d) for 8 years. Light microscopy and electron microscopy showed that the typical features of DD. The patient show good respond to the treatment. During 8 years treatment, the patient had dry mouth and pruritus. The skeletal abnormalities didn’t happen in the patient. The serum lipid profile, liver function and renal function within normal lever after treatment. Our findings showed that porcupine-like appearance is a unique pattern of DD. Acitretin may be a useful therapeutic agent in children with DD and less likely to cause skeletal problems.

Epidemiology of Depression and Suicide Ideation in Patients With Psoriasis:A Metaanalysis of Prospective Cohort Studies

Objective:Psoriasis is an immune-mediated inflammatory,chronic,recurrent skin disease associated with a high risk of developing psychiatric disorders,especially depression and suicidal ideation,leading to functional disability and poor quality of life.This study was conducted to comprehensively review and assess the epidemiologic association between psoriasis and the risk ratios(RRs)of depression or suicidal ideation.Methods:Five databases(PubMed,Wanfang Database,CNKI,The Cochrane Library,and EMBASE)were searched for prospective cohort studies on the prevalence of depression and/or suicidal ideation in patients with psoriasis updated to February 2,2023.Two independent reviewers evaluated and extracted the data,which were then pooled into a summary RR with corresponding 95%confidence interval(CI)using random-effects models.Results:Sixteen cohort studies comprising 1,166,840 patients with psoriasis and 3,294,205 controls were eligible for the final analysis.The pooled RR for depression was 1.43(95%CI=1.13-1.81)in patients with psoriasis and1.55(95%CI=1.40-1.71)in patients with psoriatic arthritis.In the subgroup analysis,Asian patients with psoriasis(RR=1.38,95%CI=1.17-1.63)had a lower pooled RR for depression than non-Asian patients(RR=1.45,95%CI=1.07-1.97),and patients with moderate-to-severe psoriasis(RR=1.69,95%CI=1.15-2.50)showed a higher RR for depression than patients with mild psoriasis(RR=1.60,95%CI=1.06-2.42).We also found no increase in the RR for suicidal ideation among people with psoriasis(RR=1.25,95%CI=0.95-1.65).Conclusion:Patients with psoriasis are at an increased risk of depression.Among patients with psoriasis,those with psoriatic arthritis,those who are non-Asian,and those with moderate-to-severe psoriasis are at higher risk for depression.However,the available evidence does not support an association between psoriasis and suicidal ideation.

Guidelines for the Diagnosis and Treatment of Psoriasis in China: 2019 Concise Edition

Psoriasis is an immune-mediated chronic,recurrent,systemic inflammatory disease induced by the combination of hereditary and environmental factors.The etiology of psoriasis involves hereditary,immune,environmental,and other factors,and its pathogenesis is considered to involve excessive proliferation of keratinocytes or inflammatory activation of synovial cells and chondrocytes within joints;these processes are caused by an immune response that is mainly mediated by T lymphocytes and various other immune cells.Psoriasis is an incurable disease,and the goal of treatment is to control the progression of disease and maintain long-term efficacy.Treatment protocols should be based on the patients’conditions.Patients with mild psoriasis can be mainly treated with topical agents,and those with moderate to severe psoriasis can be treated with systemic medications.Targeted biological agents can be appropriately chosen for cases of psoriasis that are resistant to traditional systemic treatment.New drugs and treatments for psoriasis continue to evolve and emerge,and our updated guidelines are designed to deliver new achievements from China and physicians worldwide and to keep pace with global progress on psoriasis research.Compared with the previous two editions,part of contents have been modified and revised in the present guidelines;this will further facilitate standardization and increase the efficiency of the diagnosis and treatment of psoriasis in China,and improve patients’quality of life.

A case of hepatocellular carcinoma diagnosed as facial cutaneous metastasis survives for 18 months

To the Editor: Cutaneous metastasis of an internal malignancy is uncommon. Its clinical presentation is variable, although it is rarely seen in hepatocellular carcinoma (HCC).[1] For patients with HCC, the presence of cutaneous metastases is associated with a dismal prognosis.

Real-world investigation of the efficacy and safety of secukinumab for psoriasis treatment in a Chinese population

To the Editor:Psoriasis is a chronic inflammatory proliferative disease mediated by T lymphocytes under a multi-gene genetic background.[1]Moreover,its pathogenesis is not fully understood.Recent research shows that T cell-mediated immune inflammation plays a key role in the pathophysiology of psoriasis,and its most common downstream mediator,interleukin(IL)-17,is the primary effector cytokine in this condition.Secukinumab is a high-affinitive,fully humanized,G1κmonoclonal antibody that can simultaneously block IL-17A from multiple sources.[2]In a global,core,phase III trial,secukinumab was confirmed to rapidly improve psoriasis symptoms;however,the efficacy of its use in Chinese population remains unknown.This study was performed in a Chinese population for a period of 16 weeks to explore the efficacy and safety of secukinumab after its introduction in clinical settings in May 2019.

More mutation accumulation in Neisseria gonorrhoeae(NG)with susceptibility than that in NG with decreased susceptibility to ceftriaxone

To the Editor:Neisseria gonorrboeae(NG)with decreased susceptibility to ceftriaxone(CRO)and cefixime,the last option for first-line anti-microbial monotherapy,was spread globally.Until now,more than ten clinical treatment failures with CRO have been reported with minimum inhibitory concentration(MIC)range as 0.5 to 2.0 mg/L.CRO,thereafter,is no longer recommended as mono-therapy for gonorrhea.Instead,dual therapy that combines CRO with azithromycin is currently exerted in many countries including China.However,the first treatment failure to dual therapy(500 mg CRO plus 1 g azithromycin)was identifed in 2014 in London.

Successful Treatment of Severe Pityriasis Rubra Pilaris with Cyclosporine A in An Infant

Introduction:Pityriasis rubra pilaris(PRP)is a rare chronic papulosquamous disease and is often difficult to treat,especially in children.Here we reported a PRP infant successfully treated by cyclosporine A.Case presentation:An 18-month-old infant with severe PRP presented with reddish follicular papules and inflammatory,infiltrated erythema over the whole body.The condition rapidly and completely responded to oral cyclosporine A.Complete clearance of the lesions was achieved within 16 weeks,and no recurrence developed during 6 months of follow-up.During both treatment and follow-up,routine blood parameters,serum creatinine,serum urea nitrogen,liver function,and blood pressure were regularly monitored once a month and remained within the reference ranges.Moreover,the child grew and developed normally and the body weight increased by 3 kg.Discussion:To date,there are not well established protocols for treatment of PRP in children.Cyclosporine A has been demonstrated to be effective treatment in psoriasis in adults and children which do not respond to some other treatments.The rapid onset of action and good efficacy of cyclosporine A were observed in our case,who achieved complete response after 16 weeks of treatment without any side effects.Conclusion:Cyclosporine A might be a safe and effective option for treating severe PRP in children.

Efficacy of Acitretin Monotherapy on Basal Cell Carcinoma:A Case Report

Introduction:Basal cell carcinoma(BCC)is the most common skin cancer which mainly affects the population over 50 years of age.In addition to surgical treatment,nonsurgical treatment is also an attractive option for some patients.We herein report a case of an 82-year-old man with BCC successfully treated with acitretin.Case presentation:An 82-year-old man presented with BCC on his left nose wing more than 2 years ago.Due to his unwillingness to accept treatment that may lead to pain,discomfort,or trauma,the patient was prescribed oral acitretin 25 mg twice daily[0.8 mg/(kg·d)]and was instructed to apply 2%fusidic acid cream topically once daily for trauma protection.The lesion progressively shrank in size after 4 weeks of treatment,and was almost completely resolved after 28 weeks of follow-up.The patient reported mild adverse effects,such as mild skin fragility and cheilitis,and apparent scaling skin,which caused minor discomfort but did not affect the continuation of treatment.Discussion:The pathogenesis of BCC is still unclear,but it has been demonstrated to be linked to overactive hedgehog signaling and its crosstalk with other pathways such as phosphoinositide 3-kinase and mammalian target of rapamycin.Acitretin could obviously inhibit cell growth and proliferation and down-regulate AMP-dependent protein kinases that plays critical role in the blocking of malignant progression of several tumors including BCC.Conclusion:We provide an effective alternative for the patients with BCC who are unwilling to receive surgical therapy.