Cargando…

Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)

Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal system...

Descripción completa

Detalles Bibliográficos
Autores principales: Kobayashi, Tomoko, Fujishima, Fumiyoshi, Tokodai, Kazuaki, Sato, Chiaki, Kamei, Takashi, Miyake, Noriko, Matsumoto, Naomichi, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218258/
https://www.ncbi.nlm.nih.gov/pubmed/37239439
http://dx.doi.org/10.3390/genes14051079
_version_ 1785048731369865216
author Kobayashi, Tomoko
Fujishima, Fumiyoshi
Tokodai, Kazuaki
Sato, Chiaki
Kamei, Takashi
Miyake, Noriko
Matsumoto, Naomichi
Kosho, Tomoki
author_facet Kobayashi, Tomoko
Fujishima, Fumiyoshi
Tokodai, Kazuaki
Sato, Chiaki
Kamei, Takashi
Miyake, Noriko
Matsumoto, Naomichi
Kosho, Tomoki
author_sort Kobayashi, Tomoko
collection PubMed
description Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) or in the dermatan sulfate epimerase gene (mcEDS-DSE). As gastrointestinal complications of mcEDS-CHST14, diverticula in the colon, small intestine, or stomach have been reported, which may lead to gastrointestinal perforation, here, we describe sisters with mcEDS-CHST14, who developed colonic perforation with no evidence of diverticula and were successfully treated through surgery (a resection of perforation site and colostomy) and careful postoperative care. A pathological investigation did not show specific abnormalities of the colon at the perforation site. Patients with mcEDS-CHST14 aged from the teens to the 30s should undergo not only abdominal X-ray photography but also abdominal computed tomography when they experience abdominal pain.
format Online
Article
Text
id pubmed-10218258
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-102182582023-05-27 Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14) Kobayashi, Tomoko Fujishima, Fumiyoshi Tokodai, Kazuaki Sato, Chiaki Kamei, Takashi Miyake, Noriko Matsumoto, Naomichi Kosho, Tomoki Genes (Basel) Case Report Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) or in the dermatan sulfate epimerase gene (mcEDS-DSE). As gastrointestinal complications of mcEDS-CHST14, diverticula in the colon, small intestine, or stomach have been reported, which may lead to gastrointestinal perforation, here, we describe sisters with mcEDS-CHST14, who developed colonic perforation with no evidence of diverticula and were successfully treated through surgery (a resection of perforation site and colostomy) and careful postoperative care. A pathological investigation did not show specific abnormalities of the colon at the perforation site. Patients with mcEDS-CHST14 aged from the teens to the 30s should undergo not only abdominal X-ray photography but also abdominal computed tomography when they experience abdominal pain. MDPI 2023-05-14 /pmc/articles/PMC10218258/ /pubmed/37239439 http://dx.doi.org/10.3390/genes14051079 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kobayashi, Tomoko
Fujishima, Fumiyoshi
Tokodai, Kazuaki
Sato, Chiaki
Kamei, Takashi
Miyake, Noriko
Matsumoto, Naomichi
Kosho, Tomoki
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
title Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
title_full Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
title_fullStr Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
title_full_unstemmed Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
title_short Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
title_sort detailed courses and pathological findings of colonic perforation without diverticula in sisters with musculocontractural ehlers–danlos syndrome caused by pathogenic variant in chst14 (mceds-chst14)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218258/
https://www.ncbi.nlm.nih.gov/pubmed/37239439
http://dx.doi.org/10.3390/genes14051079
work_keys_str_mv AT kobayashitomoko detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14
AT fujishimafumiyoshi detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14
AT tokodaikazuaki detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14
AT satochiaki detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14
AT kameitakashi detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14
AT miyakenoriko detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14
AT matsumotonaomichi detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14
AT koshotomoki detailedcoursesandpathologicalfindingsofcolonicperforationwithoutdiverticulainsisterswithmusculocontracturalehlersdanlossyndromecausedbypathogenicvariantinchst14mcedschst14