Pleuropulmonary pathology of vascular Ehlers–Danlos syndrome: spontaneous laceration, haematoma and fibrous nodules

Kawabata, Yoshinori; Watanabe, Akira; Yamaguchi, Shozaburo; Aoshima, Masahiro; Shiraki, Akira; Hatamochi, A.; Kawamura, Tomohiro; Uchiyama, Takashi; Watanabe, A.; Fukuda, Yuh

doi:10.1111/j.1365-2559.2010.03574.x

Cited by 51 publications

(34 citation statements)

References 14 publications

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“…In previous reports, unilateral pneumothorax in EDS was not fatal (2). Hemorrhagic pulmonary complications are less described (5,13,14). The connective tissue of the vessel walls and internal organs, particularly that of the liver and lung, shows distinct hypoplasia, and type III collagen is significantly reduced (3).…”

Section: Discussionmentioning

confidence: 98%

“…The connective tissue of the vessel walls and internal organs, particularly that of the liver and lung, shows distinct hypoplasia, and type III collagen is significantly reduced (3). This may cause increased fragility of the lungs and may present characteristic radiological findings, such as distributed cavities, fibrous nodules, and calcified lesions (5,15). Furthermore, pleural rupture may lead to pneumothorax or pneumohemothorax.…”

Section: Discussionmentioning

confidence: 99%

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Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax

et al. 2015

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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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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax

et al. 2015

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“…Type 3 collagen is a key element in the structure of arterial walls, viscous organs, and lung parenchyma. The pathogenesis of associated respiratory complications is unclear, though they are thought to result in fragility of the lung structures [8]. This deficit of type 3 collagen that constitutes the vascular walls and lung parenchyma may lead to pulmonary artery rupture or tears in the lung parenchyma, which may appear as characteristic changes of the lung in vEDS cases [4,5,9].…”

Section: Discussionmentioning

confidence: 99%

Total pleural covering technique for intractable pneumothorax in patient with Ehlers–Danlos syndrome

Kadota

Fukui

Kitahara

et al. 2014

Gen Thorac Cardiovasc Surg

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We report a patient with vascular-type Ehlers-Danlos syndrome (vEDS) who developed pneumothorax and was treated with a total pleural covering technique (TPC). A 24-year-old man developed repeat pneumothorax with intermittent hemo-sputum. Based on unusual radiological manifestations of lung lesions and physical findings, EDS was suspected as an underlying cause of the pneumothorax. Surgical treatment was performed using a mediastinal fat pad and TPC, and no relapse was seen up to 2 years after surgery. TPC is a less invasive surgical approach for selected patients with vEDS. Accurate underlying diagnosis of vEDS and systemic evaluation of vascular complications are necessary before planning surgery.

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“…Kawabata et al . previously reported that most pulmonary lesions consist of idiopathic lung tissue lacerations [10]. Chest CT has been reported to show ground glass opacity due to bleeding, a tumor-like shadow due to the presence of a hematoma, a cavernous opacity following the formation of the hematoma, or a cystic shadow and a calcified opacity [6,8,11,12].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2013

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IntroductionVascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease.Case presentationA 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36). A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation.ConclusionWe report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

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Pleuropulmonary pathology of vascular Ehlers–Danlos syndrome: spontaneous laceration, haematoma and fibrous nodules

Abstract: Spontaneous laceration of lung tissue is an essential feature and is followed by haematoma and possible fibrous nodule formation.

Cited by 51 publications

References 14 publications

Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax

Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax

Total pleural covering technique for intractable pneumothorax in patient with Ehlers–Danlos syndrome

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

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