AI Article Synopsis

  • * A literature review was conducted to develop a user-friendly diagnostic algorithm to help clinicians identify these disorders and determine appropriate genetic testing.
  • * The research included a comprehensive search of databases, resulting in 625 relevant articles that discuss the different diseases and contributed to forming a clear approach for provisional diagnosis based on specific clinical factors.

Article Abstract

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.

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Source
http://dx.doi.org/10.1093/ced/llae322DOI Listing

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