Pub Date : 2024-08-31DOI: 10.25259/IJDVL_1125_2023
Jia Yu, Ting Chen, He Zhou, Sujun Li, Bo Wu, Ying Xiong
Background Atopic dermatitis (AD) has high prevalence in children. Current AD diagnosis and management focuses only on clinical phenotypes, but do not explore the endophenotypes, which are more important because they are a series of biomarkers linking clinical phenotype and genotype Aims Metabolomics can qualitatively and quantitatively capture real-time dynamic changes in a wide range of small molecule metabolites. This pilot study evaluated metabolomics biomarkers and altered metabolic pathways in preschool children with AD, aiming to explore the underlying molecular mechanisms and signalling pathways of the disease. Methods Blood samples of 23 preschool children with AD and 23 healthy children without AD or any other skin disease were collected. The untargeted metabolomic measurements were performed on a SCIEX-AD ultraperformance liquid chromatography system coupled with an AB SCIEX X500B QTOF system. Characteristics of small molecules in AD children were assessed and their associations with AD clinical index were evaluated. Altered metabolic pathways in AD children were also analysed using a comprehensive metabolomics platform. Results A total of 1,969 metabolites were identified, of which AD children exhibited 377 significantly altered metabolites. Multivariate statistical analysis demonstrated that the AD group and the control group could be clearly separated. Volcano plot analysis illustrated that 144 metabolites were up-regulated and 233 metabolites were down-regulated in AD children. The Severity Scoring of Atopic Dermatitis (SCORAD index) showed a moderate-to-strong association with estrogens, carotenes, leukotrienes, flavonols and keto acids in AD children (|r|=0.440-0.557). Several pathways, including the phenylalanine metabolism, were identified as altered in AD children. Limitations A small group of children was included in the study; the results need to be validated in larger sample sizes. Conclusion Results of this study illustrate potential alterations in metabolites and the phenylalanine metabolic pathway in preschool children with AD. Although this is a pilot study with a limited sample size, it may provide a new perspective for exploring the pathogenesis of AD, and for personalised treatment modalities.
{"title":"Metabolomic biomarkers and altered phenylalanine metabolic pathway in preschool children with atopic dermatitis - A pilot study.","authors":"Jia Yu, Ting Chen, He Zhou, Sujun Li, Bo Wu, Ying Xiong","doi":"10.25259/IJDVL_1125_2023","DOIUrl":"https://doi.org/10.25259/IJDVL_1125_2023","url":null,"abstract":"<p><p>Background Atopic dermatitis (AD) has high prevalence in children. Current AD diagnosis and management focuses only on clinical phenotypes, but do not explore the endophenotypes, which are more important because they are a series of biomarkers linking clinical phenotype and genotype Aims Metabolomics can qualitatively and quantitatively capture real-time dynamic changes in a wide range of small molecule metabolites. This pilot study evaluated metabolomics biomarkers and altered metabolic pathways in preschool children with AD, aiming to explore the underlying molecular mechanisms and signalling pathways of the disease. Methods Blood samples of 23 preschool children with AD and 23 healthy children without AD or any other skin disease were collected. The untargeted metabolomic measurements were performed on a SCIEX-AD ultraperformance liquid chromatography system coupled with an AB SCIEX X500B QTOF system. Characteristics of small molecules in AD children were assessed and their associations with AD clinical index were evaluated. Altered metabolic pathways in AD children were also analysed using a comprehensive metabolomics platform. Results A total of 1,969 metabolites were identified, of which AD children exhibited 377 significantly altered metabolites. Multivariate statistical analysis demonstrated that the AD group and the control group could be clearly separated. Volcano plot analysis illustrated that 144 metabolites were up-regulated and 233 metabolites were down-regulated in AD children. The Severity Scoring of Atopic Dermatitis (SCORAD index) showed a moderate-to-strong association with estrogens, carotenes, leukotrienes, flavonols and keto acids in AD children (|r|=0.440-0.557). Several pathways, including the phenylalanine metabolism, were identified as altered in AD children. Limitations A small group of children was included in the study; the results need to be validated in larger sample sizes. Conclusion Results of this study illustrate potential alterations in metabolites and the phenylalanine metabolic pathway in preschool children with AD. Although this is a pilot study with a limited sample size, it may provide a new perspective for exploring the pathogenesis of AD, and for personalised treatment modalities.</p>","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-8"},"PeriodicalIF":3.2,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Palmoplantar keratoderma with honeycombing: A case of loricrin keratoderma with heterozygous frameshift mutation in LOR gene, from India.","authors":"Bushra Muna, Pavani Neerukonda, Srikanth Shanmugam","doi":"10.25259/IJDVL_327_2024","DOIUrl":"https://doi.org/10.25259/IJDVL_327_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background Generalised lichen planus (GLP) is a chronic disease with an overall prevalence of 1% requiring longer treatment. Limited studies are available on GLP and its treatment in the literature, unlike oral lichen planus. Objective To determine the best steroid-sparing treatment modality for GLP by comparing the efficacy, response, safety, side effects, and remission with azathioprine, dapsone, and narrowband UV-B (NB-UVB) along with their impact on itching severity and life quality. Methodology Open-label, prospective, comparative, interventional study on generalised lichen planus patients treated with systemic steroids along with one of three steroid-sparing modalities. Totally 90 patients were studied including 30 patients each who received azathioprine (Group A), dapsone (Group B), and narrow band UVB (NB-UVB) (Group C), respectively, for 16 weeks. Itch severity index (ISI) and Dermatology life quality Index (DLQI) were assessed at baseline and week 24. All patients received oral prednisolone until there was no more active disease. Response was assessed in terms of occurrence of new lesions, flattening of lesions, post-inflammatory hyperpigmentation (PIH), and grading of lesions two weeks once for 6 months followed by six months of follow-up after treatment completion. Results Females outnumbered males in all 3 groups. Mean patient ages (34, 38, and 34) and the presence of one or more co-morbidities (50%, 42.3%, 37.5%) in Groups A, B, and C, respectively, were comparable. ISI and DLQI improvement at 24 weeks were greatest with NB-UVB, followed by azathioprine and dapsone in that order; the differences in improvement between groups showed high statistical significance. At week 24, occurrence of new lesions (0%, 0%, 3.8%), flattening (100% - all groups), PIH (100% - all groups), grade 3 lesions i.e. poor response, resolution of 20-50% of lesions (7.1%, 11.5%, 0%), grade 2 lesions i.e. partial response, resolution of 50-90% of lesions (35.7%, 76.9%, 8.3%) and grade 1 lesions i.e. complete response, resolution of >90% lesions (57.1%, 11.5%, 91.3%) were noted in Groups A, B and C, respectively; the differences in the extent of resolution of lesions between the groups were highly significant statistically. Remission was seen in 100%, 76.9%, and 87.5% in Groups A, B, and C, respectively, after six months. Limitations The sample size was small. Only 3 treatment options were compared in this study but many more options have been used for lichen planus. Long term follow-up is required. Conclusions NB-UVB with oral steroids showed a better response in terms of improvement in DLQI, ISI, disease control, and side effects than azathioprine and dapsone. Azathioprine showed a faster response and more prolonged remission. Dapsone showed poor response with multiple side effects.
{"title":"Comparative study of the efficacy of azathioprine, dapsone, and NB-UVB phototherapy as steroid-sparing modalities in generalised lichen planus.","authors":"Mithra S, Parimalam Kumar, Sowmiya R","doi":"10.25259/IJDVL_383_2023","DOIUrl":"https://doi.org/10.25259/IJDVL_383_2023","url":null,"abstract":"<p><p>Background Generalised lichen planus (GLP) is a chronic disease with an overall prevalence of 1% requiring longer treatment. Limited studies are available on GLP and its treatment in the literature, unlike oral lichen planus. Objective To determine the best steroid-sparing treatment modality for GLP by comparing the efficacy, response, safety, side effects, and remission with azathioprine, dapsone, and narrowband UV-B (NB-UVB) along with their impact on itching severity and life quality. Methodology Open-label, prospective, comparative, interventional study on generalised lichen planus patients treated with systemic steroids along with one of three steroid-sparing modalities. Totally 90 patients were studied including 30 patients each who received azathioprine (Group A), dapsone (Group B), and narrow band UVB (NB-UVB) (Group C), respectively, for 16 weeks. Itch severity index (ISI) and Dermatology life quality Index (DLQI) were assessed at baseline and week 24. All patients received oral prednisolone until there was no more active disease. Response was assessed in terms of occurrence of new lesions, flattening of lesions, post-inflammatory hyperpigmentation (PIH), and grading of lesions two weeks once for 6 months followed by six months of follow-up after treatment completion. Results Females outnumbered males in all 3 groups. Mean patient ages (34, 38, and 34) and the presence of one or more co-morbidities (50%, 42.3%, 37.5%) in Groups A, B, and C, respectively, were comparable. ISI and DLQI improvement at 24 weeks were greatest with NB-UVB, followed by azathioprine and dapsone in that order; the differences in improvement between groups showed high statistical significance. At week 24, occurrence of new lesions (0%, 0%, 3.8%), flattening (100% - all groups), PIH (100% - all groups), grade 3 lesions i.e. poor response, resolution of 20-50% of lesions (7.1%, 11.5%, 0%), grade 2 lesions i.e. partial response, resolution of 50-90% of lesions (35.7%, 76.9%, 8.3%) and grade 1 lesions i.e. complete response, resolution of >90% lesions (57.1%, 11.5%, 91.3%) were noted in Groups A, B and C, respectively; the differences in the extent of resolution of lesions between the groups were highly significant statistically. Remission was seen in 100%, 76.9%, and 87.5% in Groups A, B, and C, respectively, after six months. Limitations The sample size was small. Only 3 treatment options were compared in this study but many more options have been used for lichen planus. Long term follow-up is required. Conclusions NB-UVB with oral steroids showed a better response in terms of improvement in DLQI, ISI, disease control, and side effects than azathioprine and dapsone. Azathioprine showed a faster response and more prolonged remission. Dapsone showed poor response with multiple side effects.</p>","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-6"},"PeriodicalIF":3.2,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A de novo case of ankyloblepharon, ectodermal defects, cleft lip/palate syndrome with TP63 mutation diagnosed prenatally.","authors":"Sirisha Varala, Surekha Challa, Nagu Gugulothu, Venkata Krishna Ananthula, Rajeev Singh Thakur","doi":"10.25259/IJDVL_152_2024","DOIUrl":"https://doi.org/10.25259/IJDVL_152_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Asymptomatic, extensive brownish macules and patches on the lower abdomen and legs.","authors":"Kyung Ho Lee, Joo Ho Jeong, Yoon-Seob Kim","doi":"10.25259/IJDVL_396_2024","DOIUrl":"https://doi.org/10.25259/IJDVL_396_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Apoorva Sharma, Keshavamurthy Vinay, Davinder Parsad, Srinivasa G Y, Debajyoti Chatterjee
{"title":"Cutaneous angiosarcoma presenting as erythematous plaques and diffuse facial swelling in an elderly man.","authors":"Apoorva Sharma, Keshavamurthy Vinay, Davinder Parsad, Srinivasa G Y, Debajyoti Chatterjee","doi":"10.25259/IJDVL_439_2024","DOIUrl":"https://doi.org/10.25259/IJDVL_439_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}