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Histopathologic Changes of the Esophagus in Duchenne Muscular Dystrophy.

Authors
  • Marshall, Mason R1
  • Reyes-Múgica, Miguel2
  • 1 Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
  • 2 Department of Pathology, Children's Hospital of Pittsburgh, Chief of Pathology and Head of Laboratories, Pittsburgh, PA, USA.
Type
Published Article
Journal
International journal of surgical pathology
Publication Date
Feb 01, 2024
Volume
32
Issue
1
Pages
17–20
Identifiers
DOI: 10.1177/10668969231167532
PMID: 37063046
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Duchenne muscular dystrophy (DMD) is characterized by progressive systemic muscle wasting, leading to respiratory paralysis and early death. This X-linked disease is caused by DMD mutations, encoding dystrophin.1 There is little information regarding gastrointestinal abnormalities in patients with DMD. However, since the esophageal wall includes smooth and skeletal muscle it is also vulnerable to suffering the effects of muscle wasting in patients with DMD. After finding dyskeratosis and parakeratosis restricted to the proximal and middle esophagus with distal sparing in an 18-year-old patient with DMD, we performed an archive search of a large academic hospital and identified four additional patients with DMD who had also undergone esophageal biopsy. The patients consisted of five boys, ranging from 7 to 19 years of age. Esophageal injury was present in two patients, consisting of mild esophagitis in one, and spongiosis with dyskeratosis and parakeratosis in another. These patients were both older and had been diagnosed with DMD for greater than 15 years, while the three patients with histologically normal biopsies were younger and been diagnosed with DMD for 7, 9, and 13 years, respectively. Although the data is limited and the changes are subtle, they can be explained by the underlying muscular dystrophy pathophysiology.

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