Literature DB >> 9147885

Respiratory complications of Ehlers-Danlos syndrome type IV.

S B Dowton1, S Pincott, L Demmer.   

Abstract

Pulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. At age 20.5 years the patient, who had previously suffered a spontaneous colonic perforation, developed intermittent recurrent hemoptysis and had a spontaneous hemopneumothorax. At presentation, imaging studies revealed multiple scattered cavitary lesions in both lungs. On separate occasions large parenchymal cysts ensued and subsequently regressed. Reviews of other reported patients indicate that pulmonary complications do occur in patients with Ehlers-Danlos syndrome type IV but have not resulted directly in patient mortality.

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Year:  1996        PMID: 9147885     DOI: 10.1111/j.1399-0004.1996.tb02724.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  12 in total

Review 1.  Diffuse Cystic Lung Disease. Part II.

Authors:  Nishant Gupta; Robert Vassallo; Kathryn A Wikenheiser-Brokamp; Francis X McCormack
Journal:  Am J Respir Crit Care Med       Date:  2015-07-01       Impact factor: 21.405

Review 2.  The Genetics of Pneumothorax.

Authors:  Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby
Journal:  Am J Respir Crit Care Med       Date:  2019-06-01       Impact factor: 21.405

3.  A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

Authors:  Jodie N Painter; Hanna Tapanainen; Mirja Somer; Pentti Tukiainen; Kristiina Aittomäki
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

Review 4.  Extracellular matrix in lung development, homeostasis and disease.

Authors:  Yong Zhou; Jeffrey C Horowitz; Alexandra Naba; Namasivayam Ambalavanan; Kamran Atabai; Jenna Balestrini; Peter B Bitterman; Richard A Corley; Bi-Sen Ding; Adam J Engler; Kirk C Hansen; James S Hagood; Farrah Kheradmand; Qing S Lin; Enid Neptune; Laura Niklason; Luis A Ortiz; William C Parks; Daniel J Tschumperlin; Eric S White; Harold A Chapman; Victor J Thannickal
Journal:  Matrix Biol       Date:  2018-03-08       Impact factor: 11.583

5.  Total pleural covering technique for intractable pneumothorax in patient with Ehlers-Danlos syndrome.

Authors:  Yoshihisa Kadota; Eriko Fukui; Naoto Kitahara; Eiji Okura; Mitsunori Ohta
Journal:  Gen Thorac Cardiovasc Surg       Date:  2014-12-16

6.  A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.

Authors:  Seung-Tae Lee; Jee-Ah Kim; Shin-Yi Jang; Duk-Kyung Kim; Jong-Won Kim; Chang-Seok Ki
Journal:  Heart Vessels       Date:  2008-04-04       Impact factor: 2.037

7.  Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: report of a case.

Authors:  Antonio Privitera; Chaz Milkhu; Vivek Datta; Mazim Sayegh; Richard Cohen; Alastair Windsor
Journal:  Surg Today       Date:  2009-01-08       Impact factor: 2.549

Review 8.  Diffuse cystic lung diseases.

Authors:  Jay H Ryu; Xinlun Tian; Misbah Baqir; Kaifeng Xu
Journal:  Front Med       Date:  2013-05-11       Impact factor: 4.592

9.  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

10.  Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report.

Authors:  Fumihiro Kashizaki; Atsushi Hatamochi; Kazunori Kamiya; Akira Yoshizu; Hiroaki Okamoto
Journal:  J Med Case Rep       Date:  2013-02-01
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