Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management.

Autor: Park JS; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania; Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania., Saeidian AH; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania., Youssefian L; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania., Kondratuk KE; Department of Dermatology, Geisinger Medical Center, Danville, Pennsylvania., Pride HB; Department of Dermatology, Geisinger Medical Center, Danville, Pennsylvania., Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: Hassan.Vahidnezhad@Jefferson.edu., Uitto J; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: Jouni.Uitto@Jefferson.edu.
Jazyk: angličtina
Zdroj: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2023 Dec; Vol. 89 (6), pp. 1215-1226. Date of Electronic Publication: 2022 Aug 10.
DOI: 10.1016/j.jaad.2022.08.012
Abstrakt: Great advances have been made in the field of heritable skin disorders using next-generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome sequencing, whole-transcriptome sequencing, and disease-targeted multigene panels). When NGS first became available, the cost and lack of access to these technologies were limiting factors; however, with decreasing sequencing costs and the expanding knowledge base of genetic skin diseases, fundamental awareness of NGS has become prudent. The heritable ichthyoses comprise a genotypically and phenotypically heterogeneous group of monogenic keratinization disorders characterized by persistent scaling, with at least 55 distinct genes currently implicated in causing nonsyndromic and syndromic forms of the disease. By providing a simplified overview of available NGS techniques and applying them in the context of ichthyosis, one of the most common genodermatoses, we hope to encourage dermatologists to offer, when appropriate, genetic testing earlier in patients with unsolved presentations. With the aid of NGS, dermatologists can provide diagnostic certainty in cases of suspected genodermatoses and offer potentially life-changing genome-guided and targeted therapies as they become available.
Competing Interests: Conflicts of interest None disclosed.
(Copyright © 2023. Published by Elsevier Inc.)
Databáze: MEDLINE
Externí odkaz: