A Case of Vascular Ehlers-Danlos Syndrome With Repetitive Colon Perforation During Childhood

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  • Terui Keita
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Hatamochi Atsushi
    Department of Dermatology, Dokkyo Medical University, School of Medicine
  • Mitsunaga Tetsuya
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Saito Takeshi
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Nakata Mitsuyuki
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Terui Elena
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Kobayashi Masafumi
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Oita Satoru
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Shin-no Yoshitaka
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University
  • Yoshida Hideo
    Department of Pediatric Surgery, Graduate School of Medicine, Chiba University

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Other Title
  • 小児期に大腸穿孔を繰り返した血管型Ehlers-Danlos 症候群の1 例
  • ショウニキ ニ ダイチョウ センコウ オ クリカエシタ ケッカンガタ Ehlers-Danlos ショウコウグン ノ 1レイ

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Abstract

We report a 15-year-old girl with the vascular type of Ehlers-Danlos syndrome (vEDS) who presented three episodes of colon perforation at our institution: sigmoid perforation at age 11, perforation of the sigmoid diverticulum at age 13, and anastmotic perforation at the sigmoid at age 15 years. She had previous history of clubbed foot at age one year. Physical examination revealed translucent skin of precordium and acrogeria. These findings led us to suspect vEDS. Biochemical and genetic testing of cultured fibroblast derived from skin biopsy confirmed the diagnosis of vEDS. During subsequent follow-up, she underwent another 2 surgeries for postoperative ileus. The vEDS is a disorder with potential perforation of various organs including the artery, intestine and/or uterus, resulting from mutations within the type-III collagen gene. Hyperextension of the skin or arthrochalasis is typically seen in patients with the classical type of EDS. It is important to know about vEDS, and due consideration should be given as a differential diagnosis of repetitive intestinal perforation in case early diagnosis and treatment are required.

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