Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease)

@article{Fuchizaki2003HereditaryHT,
  title={Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease)},
  author={Uichiro Fuchizaki and Hirotoshi Miyamori and Shunsuke Kitagawa and Shuichi Kaneko and Kenichi Kobayashi},
  journal={The Lancet},
  year={2003},
  volume={362},
  pages={1490-1494}
}

Síndrome de Rendu-Osler-Weber: relato de caso e revisão de literatura

This study is a case report of a patient with this syndrome who came to the ENT Outpatient Ward of the Faculdade de Medicina de Marilia; and a bibliographic review of the disease's etiopathogenesis, clinical manifestations and clinical-surgical treatment options are done.

Hipertensión pulmonar como manifestación de la telangiectasia hemorrágica hereditaria o síndrome de Osler-Weber-Rendu

Hereditary hemorrhagic telangiectasia, or Osler-Weber-Rendu syndrome, is an uncommon disease whose estimated prevalence ranges from 1:5.000 to 1:8.000. There are higher rates in certain geographic

Rendu-Osler-Weber syndrome: dermatological approach*

The case of a 53-year-old male patient who presented telangiectasias on fingers, oral cavity and nasal mucosa for 10 years, with a history of recurrent epistaxis of varying severity since childhood is reported.

Rendu-Osler-Weber disease: update of medical and dental considerations.

Osler Weber Rendu syndrome associated with Staphylococcus aureus Spondylodiscitis

A case is reported about a patient carrying the disease associated with vertebral osteomyelitis, who required a prolonged antibiotic treatment and instrumentation of the vertebral column at thoracic level.

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations

A 33-year-old woman presenting with progressive dyspnoea during the COVID-19 pandemic had a typical presentation of HHT with recurrent epistaxis, telangiectasia and pulmonary arteriovenous malformations, and PAVM should be considered in individuals presenting to the emergency department with dysPNoea and hypoxaemia.

Osler-Weber-Rendu syndrome--dental implications.

The skills and knowledge that dentists need to monitor patients with OWRS properly are described, which include knowing about vascular hamartomas of the skin and oral mucosa, and how to identify and treat telangiectasia.

Case for diagnosis

The case of a patient with cutaneous manifestations and severe impairment of the digestive tract is described, it is important for the dermatologist to recognize this syndrome, since the cutaneous lesions may play a key role in diagnosis.
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References

SHOWING 1-10 OF 11 REFERENCES

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment.

In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with the disease should be investigated for presence of the disease.

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.

Hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia is now considered to be more common than previously thought and the associated brain and pulmonary lesions are sources of substantial morbidity and mortality.

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

A new 4 cM interval for ORW2 is reported that does not overlap with any previously defined and suggests a critical role for ALK1 in the control of blood vessel development or repair.

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Endoglin is identified as the HHT gene mapping to 9q3 and HHT is established as the first human disease defined by a mutation in a member of the TGF-β receptor complex.

Arteriovenous malformations in mice lacking activin receptor-like kinase-1

The early loss of anatomical, molecular and functional distinctions between arteries and veins indicates that Acvrl1 is required for developing distinct arterial and venous vascular beds.

William Osler: A Life in Medicine

Preface: On Doing an Osler Autopsy 1. English Gentlemen with American Energy 2. Learning to See: Student Years 3. The Baby Professor 4. The Best Men: Philadelphia 5. Starting at Johns Hopkins 6. We

The Life of Sir William Osler

An electrophoretic imaging process wherein a suspension of particles in a carrier liquid are placed between a photoconductive electrode and a second electrode and the migrating particles form a negative image on the second electrode leaving a positive image behind on the photoc conductive electrode.

A "remarkable collection": The Papers of Frederick Parkes Weber FRCP (1863-1962).

  • L. Hall
  • Medicine, Art
    Medical History
  • 2001
ImagesFigure 1Figure 2Figure 3Figure 4Figures 5a and 5b can be viewed as well as a full-size version of Figure 1 can be seen here.