{"title":"诊断遗传性网状色素沉着症患者的算法方法--综述。","authors":"Liza Mohapatra, Kabir Sardana, Maitreyee Panda, Rahul Mahajan","doi":"10.1093/ced/llae322","DOIUrl":null,"url":null,"abstract":"<p><p>Hereditary reticulate pigmentary disorders include a group of genetic disorders, with netlike pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in diagnosis. Based on a literature search, we propose an easy-to-follow and concise diagnostic algorithm for diagnosis. This algorithm would aid in ordering a definitive genetic test. A thorough data search was done using the PubMed database with the following keywords: ('inherit*' OR 'genetic') AND ('reticulate AND pigment*'). Thereafter, a search for individual diseases was done using the keywords 'Dowling-Degos disease', 'dyschromatosis hereditaria symmetrica', 'acropigmentation of Kitamura', 'dyschromatosis universalis hereditaria', 'Naegeli-Franceschetti-Jadassohn syndrome', 'X-linked reticulate pigmentary disorder' and 'dyskeratosis congenita'. The search included case reports, case series, observational studies, narrative and systematic reviews, and clinical trials. Acquired pigmentary disorders were excluded. In total, 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative reviews (40), case series (23), observational studies (44) and case reports (518). An easy-to-follow clinical diagnostic algorithm was prepared based on age of onset, distribution and other parameters. This algorithm will aid in reaching a provisional diagnosis. Furthermore, this approach will help in the genetic investigations of a case of hereditary reticulate pigmentary disorder.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":"12-20"},"PeriodicalIF":3.7000,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.\",\"authors\":\"Liza Mohapatra, Kabir Sardana, Maitreyee Panda, Rahul Mahajan\",\"doi\":\"10.1093/ced/llae322\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hereditary reticulate pigmentary disorders include a group of genetic disorders, with netlike pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in diagnosis. Based on a literature search, we propose an easy-to-follow and concise diagnostic algorithm for diagnosis. This algorithm would aid in ordering a definitive genetic test. A thorough data search was done using the PubMed database with the following keywords: ('inherit*' OR 'genetic') AND ('reticulate AND pigment*'). Thereafter, a search for individual diseases was done using the keywords 'Dowling-Degos disease', 'dyschromatosis hereditaria symmetrica', 'acropigmentation of Kitamura', 'dyschromatosis universalis hereditaria', 'Naegeli-Franceschetti-Jadassohn syndrome', 'X-linked reticulate pigmentary disorder' and 'dyskeratosis congenita'. The search included case reports, case series, observational studies, narrative and systematic reviews, and clinical trials. Acquired pigmentary disorders were excluded. In total, 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative reviews (40), case series (23), observational studies (44) and case reports (518). An easy-to-follow clinical diagnostic algorithm was prepared based on age of onset, distribution and other parameters. This algorithm will aid in reaching a provisional diagnosis. Furthermore, this approach will help in the genetic investigations of a case of hereditary reticulate pigmentary disorder.</p>\",\"PeriodicalId\":10324,\"journal\":{\"name\":\"Clinical and Experimental Dermatology\",\"volume\":\" \",\"pages\":\"12-20\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-12-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical and Experimental Dermatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/ced/llae322\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Experimental Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/ced/llae322","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DERMATOLOGY","Score":null,"Total":0}
An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.
Hereditary reticulate pigmentary disorders include a group of genetic disorders, with netlike pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in diagnosis. Based on a literature search, we propose an easy-to-follow and concise diagnostic algorithm for diagnosis. This algorithm would aid in ordering a definitive genetic test. A thorough data search was done using the PubMed database with the following keywords: ('inherit*' OR 'genetic') AND ('reticulate AND pigment*'). Thereafter, a search for individual diseases was done using the keywords 'Dowling-Degos disease', 'dyschromatosis hereditaria symmetrica', 'acropigmentation of Kitamura', 'dyschromatosis universalis hereditaria', 'Naegeli-Franceschetti-Jadassohn syndrome', 'X-linked reticulate pigmentary disorder' and 'dyskeratosis congenita'. The search included case reports, case series, observational studies, narrative and systematic reviews, and clinical trials. Acquired pigmentary disorders were excluded. In total, 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative reviews (40), case series (23), observational studies (44) and case reports (518). An easy-to-follow clinical diagnostic algorithm was prepared based on age of onset, distribution and other parameters. This algorithm will aid in reaching a provisional diagnosis. Furthermore, this approach will help in the genetic investigations of a case of hereditary reticulate pigmentary disorder.
期刊介绍:
Clinical and Experimental Dermatology (CED) is a unique provider of relevant and educational material for practising clinicians and dermatological researchers. We support continuing professional development (CPD) of dermatology specialists to advance the understanding, management and treatment of skin disease in order to improve patient outcomes.