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Case Reports
. 2022 Aug 16;3(3):e242.
doi: 10.1097/PG9.0000000000000242. eCollection 2022 Aug.

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

Jeffrey Lee  1 , Edward Cheeseman  2 , Maria Matheus  3 , Nagraj Kasi  1
Affiliations
Case Reports

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

Jeffrey Lee et al. JPGN Rep. .

Abstract

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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Conflict of interest statement

The authors report no funding and conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
(A) Normal lateral view on esophagram. (B) Esophageal stricture predilation. (C) Esophageal stricture postdilation.
FIGURE 2.
FIGURE 2.
(A) Retinal exudate (arrows) seen on magnetic resonance imaging of the brain. (B) Retinal exudate (arrows) seen on standard ophthalmological exam.
See this image and copyright information in PMC

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