Literature DB >> 26666608

Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax.

Hiroaki Nakagawa1, Hiroshi Wada, Takashi Hajiro, Taishi Nagao, Emiko Ogawa, Atsushi Hatamochi, Toshihiro Tanaka, Yasutaka Nakano.   

Abstract

A 17-year-old teen was hospitalized with bilateral pneumothorax. After the bilateral lungs were expanded using catheter tubes, he fully recovered and he was discharged from our hospital. He had a history of colon perforation. Ehlers-Danlos syndrome (EDS) was suspected due to the combination of colon perforation and pneumothorax, and EDS type IV was confirmed after a genetic study identified a c.1511g>a mutation in the COL3A1 gene. This is the first report of bilateral pneumothorax caused by EDS type IV. Clinicians should consider EDS type IV in the differential diagnosis for bilateral pneumothorax in conjunction with distinct previous histories and radiological findings.

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Year:  2015        PMID: 26666608     DOI: 10.2169/internalmedicine.54.4947

Source DB:  PubMed          Journal:  Intern Med        ISSN: 0918-2918            Impact factor:   1.271


  5 in total

Review 1.  Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review.

Authors:  H El Masri; T-H Loong; G Meurette; J Podevin; F Zinzindohoue; P-A Lehur
Journal:  Tech Coloproctol       Date:  2018-04-26       Impact factor: 3.781

Review 2.  Spontaneous pneumothorax in diffuse cystic lung diseases.

Authors:  Joseph Cooley; Yun Chor Gary Lee; Nishant Gupta
Journal:  Curr Opin Pulm Med       Date:  2017-07       Impact factor: 3.155

3.  Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.

Authors:  Jordan Fett; Milena Dimori; John L Carroll; Roy Morello
Journal:  Physiol Rep       Date:  2022-04

4.  Simultaneous Bilateral Primary Spontaneous Pneumothorax: A Case Report and a Review of the Literature.

Authors:  Jakrin Kewcharoen; Paul Morris; Chanavuth Kanitsoraphan; Hanh La; Narin Sriratanaviriyakul
Journal:  Case Rep Pulmonol       Date:  2019-01-27

5.  Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.

Authors:  Min A Park; So Youn Shin; Young Jin Kim; Myung Jae Park; Seung Hyeun Lee
Journal:  Medicine (Baltimore)       Date:  2017-11       Impact factor: 1.817

  5 in total

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