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A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient

Dyskeratosis congenita (DC) is a rare telomerase disorder affecting high turnover cells. Malfunction of protective proteins in DC results in patient genomes with shortened germline telomeres leading to genetic instability, cellular apoptosis, and overall cellular lifespan degradation. Classically, r...

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Autores principales: Lee, Jeffrey, Cheeseman, Edward, Matheus, Maria, Kasi, Nagraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158458/
https://www.ncbi.nlm.nih.gov/pubmed/37168640
http://dx.doi.org/10.1097/PG9.0000000000000242
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author Lee, Jeffrey
Cheeseman, Edward
Matheus, Maria
Kasi, Nagraj
author_facet Lee, Jeffrey
Cheeseman, Edward
Matheus, Maria
Kasi, Nagraj
author_sort Lee, Jeffrey
collection PubMed
description Dyskeratosis congenita (DC) is a rare telomerase disorder affecting high turnover cells. Malfunction of protective proteins in DC results in patient genomes with shortened germline telomeres leading to genetic instability, cellular apoptosis, and overall cellular lifespan degradation. Classically, reports of DC described a triad of dysplastic nails, reticular skin pigmentation, and oral leukoplakia. However, more recent reports have focused on disease presentation affecting other high turnover organ systems including the gastrointestinal system. Patients may present with dysphagia because of esophageal stricture/web, diarrhea secondary to enteropathy or enterocolitis. We present a pediatric patient who presented with feeding difficulty secondary to an esophageal stricture as the primary manifestation of DC. She was diagnosed with Revesz Syndrome, a rare subtype of DC, along with a novel genetic variant not previously reported. This report serves to bring awareness to gastroenterologists that DC, though classically thought to present with dermatological findings, can present with primary gastrointestinal manifestations.
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spelling pubmed-101584582023-05-09 A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient Lee, Jeffrey Cheeseman, Edward Matheus, Maria Kasi, Nagraj JPGN Rep Case Report Dyskeratosis congenita (DC) is a rare telomerase disorder affecting high turnover cells. Malfunction of protective proteins in DC results in patient genomes with shortened germline telomeres leading to genetic instability, cellular apoptosis, and overall cellular lifespan degradation. Classically, reports of DC described a triad of dysplastic nails, reticular skin pigmentation, and oral leukoplakia. However, more recent reports have focused on disease presentation affecting other high turnover organ systems including the gastrointestinal system. Patients may present with dysphagia because of esophageal stricture/web, diarrhea secondary to enteropathy or enterocolitis. We present a pediatric patient who presented with feeding difficulty secondary to an esophageal stricture as the primary manifestation of DC. She was diagnosed with Revesz Syndrome, a rare subtype of DC, along with a novel genetic variant not previously reported. This report serves to bring awareness to gastroenterologists that DC, though classically thought to present with dermatological findings, can present with primary gastrointestinal manifestations. Lippincott Williams & Wilkins, Inc. 2022-08-16 /pmc/articles/PMC10158458/ /pubmed/37168640 http://dx.doi.org/10.1097/PG9.0000000000000242 Text en Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lee, Jeffrey
Cheeseman, Edward
Matheus, Maria
Kasi, Nagraj
A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
title A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
title_full A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
title_fullStr A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
title_full_unstemmed A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
title_short A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
title_sort primary gastrointestinal presentation and novel genetic variant of dyskeratosis congenita in a pediatric patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158458/
https://www.ncbi.nlm.nih.gov/pubmed/37168640
http://dx.doi.org/10.1097/PG9.0000000000000242
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