Jo Anne Lim, Adawiyah Jamil, Mohan Arumugam, Yee Cheng Kueh
{"title":"Atopic dermatitis - Impact on sleep, work performance and its associated costs: A cross-sectional study.","authors":"Jo Anne Lim, Adawiyah Jamil, Mohan Arumugam, Yee Cheng Kueh","doi":"10.25259/IJDVL_892_2024","DOIUrl":"10.25259/IJDVL_892_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"664-667"},"PeriodicalIF":3.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257249","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 case of a true human tail.","authors":"Meghana Reddy, Laxmisha Chandrashekar","doi":"10.25259/IJDVL_323_2025","DOIUrl":"10.25259/IJDVL_323_2025","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"S184"},"PeriodicalIF":3.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056892","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}
Nermin Karaosmanoglu, Pınar Ozdemir Cetinkaya, İsmail Yüksel
{"title":"Clinicopathological and management outcome in 70 patients with pityriasis rubra pilaris: A retrospective analysis.","authors":"Nermin Karaosmanoglu, Pınar Ozdemir Cetinkaya, İsmail Yüksel","doi":"10.25259/IJDVL_1607_2024","DOIUrl":"10.25259/IJDVL_1607_2024","url":null,"abstract":"<p><p>Background Pityriasis rubra pilaris (PRP) is a rare papulosquamous disease with a characteristic clinical appearance, including follicular salmon-coloured papules, which can sometimes progress into erythroderma. Both clinical and histopathological findings are important in diagnosing the disease and should be evaluated together. Objectives There are no guidelines for diagnosis and treatment of the disease. The aim of the present study was to contribute to the clinical diagnosis and treatment approach of this rare disease, which could serve as a clinical guide for dermatologists. Methods A total of 70 patients diagnosed with PRP in the last 20 years were included in this retrospective study. Clinical, demographic, and histopathologic profiles; and treatment strategies were analysed. Patients were divided into two groups with 'definite' or 'probable' diagnoses; those diagnosed to have PRP based on both clinical and histopathological findings were classified as having a 'definite' diagnosis; and those with histopathologically non-specific features but clinical findings compatible with PRP were classified as having a 'probable' diagnosis. Results Forty (57.1%) patients were females and 30 (42.9%) were males. Their age ranged from 8 to 79 years (mean age 39.57±18.80 years). The median duration of the disease (before patients received the diagnosis) was 7 months (IQR=24). According to biopsy reports, the most common epidermal changes were hyperkeratosis (78.6%) and focal parakeratosis (75.7%), while the 'checkerboard pattern,' which is considered specific for the disease, was detected in only 16 (22.9%) cases. Only 8 biopsy samples (11.4%) had an eosinophilic infiltrate. While 47 (67.1%) patients were classified under 'definite diagnosis and 23 (32.9%) were classified under 'probable diagnosis.' The disease duration was longer in patients with definite diagnosis than in patients with probable diagnosis (p=0.045). A total of 33 (47.14%) patients needed systemic therapy in addition to topical treatment. While 4 of these 33 patients were classified as Type 3, the remaining patients were classified as Type 1, classical adult type. Only three Type 1 (classical adult PRP) patients had erythroderma. Oral retinoids, especially acitretin, were the most preferred and effective treatment. Five patients showed improvement with methotrexate and two needed biological agents. Limitation The present study is retrospective and includes a relatively limited number of patients. Conclusion PRP is still a rare, difficult-to-manage disease. More studies are required to standardise and improve the diagnosis and treatment approaches for the disease.</p>","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"S95-S101"},"PeriodicalIF":3.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057664","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}
Divya Gupta, Tim George Jose, Gurudatta Baraka Vishwanathan
{"title":"Genetics for dermatologists. Part 1: Fundamental concepts of structure, function, and clinical application.","authors":"Divya Gupta, Tim George Jose, Gurudatta Baraka Vishwanathan","doi":"10.25259/IJDVL_243_2025","DOIUrl":"10.25259/IJDVL_243_2025","url":null,"abstract":"<p><p>Dermatology encompasses a broad range of conditions, ranging from single-gene disorders to common complex disorders characterised by polygenic risk factors like psoriasis and atopic dermatitis. For clinicians, understanding the genetic basis of these conditions is essential for accurate diagnosis, effective management, and appropriate genetic counselling. This article aims to revisit fundamental genetic concepts, offering a foundation to a better understanding of their application in clinical practice. It introduces the fundamental genetic terminology relevant for dermatologists, along with types of mutations, inheritance patterns, key elements of pedigree charts, and major online genetic databases, which serve as valuable resources for interpreting test results and identifying disease-associated variants. Additionally, it briefly explores the basics of genetic epidemiology, including linkage analysis, and association studies.</p>","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"603-614"},"PeriodicalIF":3.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530858","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":"Genotype-phenotype spectrum and correlations in Chinese patients with keratinocytic epidermal naevus: A retrospective study of 22 cases.","authors":"Zhongtao Li, Sheng Wang","doi":"10.25259/IJDVL_1292_2024","DOIUrl":"10.25259/IJDVL_1292_2024","url":null,"abstract":"<p><p>Background Keratinocytic epidermal naevus is characterised by hyperkeratotic lesions arranged along Blaschko's lines. So far, multiple genes have been implicated, but there is no detailed data or genotype-phenotype correlation studies of keratinocytic epidermal naevi in Chinese patients. Objective To evaluate the clinical, histopathological and genetic features, genotype-phenotype correlations of keratinocytic epidermal naevus in the Chinese population. Methods A retrospective study of patients with keratinocytic epidermal naevi referred to the Department of Dermatology, West China Hospital, in the last four years. Medical history, clinical data, histopathological characteristics, and evidence of genetic mutations were collected from 22 unrelated Chinese patients with this problem. Results The distribution of the keratinocytic epidermal naevi exhibited right-side dominance. Non-epidermolytic epidermis naevus was much more common. Eight reported missense mutations were found in this study, which were detected in five genes, including HRAS, KRT10, FGFR3, GJB2, and PIK3CA. HRAS was the most commonly affected gene (9/22, 40.91%) in this study, with the c.37G>C (6/22, 27.27%) substitution representing a possible hotspot mutation. Mutation allele loads were higher in the affected lesions than blood samples. Epidermolytic epidermal naevus was found in three patients exclusively carrying KRT10 mutations. Inflammatory epidermal naevi were caused by mutations of KRT10 and PIK3CA. Most of the mosaic mutations detected in keratinocytic epidermal naevi patients were the same as germline mutations identified in systemic diseases caused by these genes. Limitations The retrospective nature of the study. Conclusion Our findings reveal the genotype-phenotype spectrum and their correlation amongst Chinese patients with keratinocytic epidermal naevi. In addition, our data underscores the importance of genetic testing in lesional skin to help characterise and categorise keratinocytic epidermal naevi, decide on a therapeutic strategy, and offer genetic counselling and prenatal diagnosis.</p>","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"637-642"},"PeriodicalIF":3.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544355","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":"Eruptive lichen planus treated with baricitinib: A case report.","authors":"Ruoning Xue, Xingyuan Jiang","doi":"10.25259/IJDVL_461_2023","DOIUrl":"10.25259/IJDVL_461_2023","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"649-651"},"PeriodicalIF":3.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693427","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":"10.25259/IJDVL_327_2024","url":null,"abstract":"","PeriodicalId":50376,"journal":{"name":"Indian Journal of Dermatology Venereology & Leprology","volume":" ","pages":"S142-S144"},"PeriodicalIF":3.4,"publicationDate":"2025-09-01","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}