Literature DB >> 22610159

Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome.

Rayees Ahmad Dar1, Sabiya Hamid Wani, Majid Mushtaque, Reyaz Ahmad Kasana.   

Abstract

Spontaneous hemo-pneumothorax is one of the pulmonary complications of connective tissue disorders such as Ehlers-Danlos syndrome (EDS). Most thoracic surgeons overlook this fact and they consider it as primary. In the following report, we describe a unique case of spontaneous recurrent hemo-pneumothorax in a young patient with undiagnosed EDS. The aim of this presentation is to raise a high index of suspicion of every thoracic surgeon to include in his differential diagnosis, the connective tissue disorders in any case of spontaneous hemo-pneumothorax.

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Year:  2012        PMID： 22610159     DOI： 10.1007/s11748-012-0047-x

Source DB:  PubMed          Journal:  Gen Thorac Cardiovasc Surg        ISSN： 1863-6705


  9 in total

1.  A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P Narcisi; P N Ward; A C Nicholls; A De Paepe; F M Pope
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

2.  Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Authors:  M Pepin; U Schwarze; A Superti-Furga; P H Byers
Journal:  N Engl J Med       Date:  2000-03-09       Impact factor: 91.245

Review 3.  Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations.

Authors:  Mark D Abel; Lee R Carrasco
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod       Date:  2006-09-12

4.  Clinical problem-solving. What's the connection? - A 26-year-old white man presented to our referral hospital with a 1-month history of persistent cough productive of white sputum, which was occasionally tinged with blood.

Authors:  Aharon E Sareli; William J Janssen; Daniel Sterman; Sanjay Saint; Reed E Pyeritz
Journal:  N Engl J Med       Date:  2008-02-07       Impact factor: 91.245

5.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Authors:  P Beighton; A De Paepe; B Steinmann; P Tsipouras; R J Wenstrup
Journal:  Am J Med Genet       Date:  1998-04-28

6.  Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.

Authors:  A Watanabe; Y Kawabata; O Okada; N Tanabe; H Kimura; A Hatamochi; H Shinkai; N Sakai; T Shimada; K Hiroshima; T Kuriyama
Journal:  Eur Respir J       Date:  2002-01       Impact factor: 16.671

7.  Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies.

Authors:  J G Clark; C Kuhn; J Uitto
Journal:  Am Rev Respir Dis       Date:  1980-12

8.  Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

Authors:  P Narcisi; Y Wu; G Tromp; J J Earley; A J Richards; F M Pope; H Kuivaniemi
Journal:  Am J Med Genet       Date:  1993-05-15

9.  Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P N Ward; A De Paepe; P Narcisi; F M Pope
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318
  9 in total
  2 in total

Review 1.  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

2.  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
  2 in total

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