Pediatric Osler-Weber-Rendu Syndrome Differential Diagnoses

  • Author: Arun Panigrahi, MD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Aug 30, 2011
 
 

Diagnostic Considerations

Problems to be considered in the differential diagnosis of Osler-Weber-Rendu syndrome include the following:

  • Cockayne Syndrome
  • Crest syndrome
  • Louis-Bar syndrome
  • Ataxia-telangiectasia
  • Essential telangiectasia
  • Acne rosacea
  • Actinically damaged skin (actinic keratosis)
  • Dermatomyositis
  • Rothmund-Thomson syndrome
  • Scleroderma
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Contributor Information and Disclosures
Author

Arun Panigrahi, MD  Fellow in Pediatric Hematology-Oncology, University of Chicago, The Pritzker School of Medicine

Arun Panigrahi, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Coauthor(s)

Lawrence C Wolfe, MD  Senior Associate in Pediatric Hematology/Oncology, Schneider Children's Hospital

Lawrence C Wolfe, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association of Blood Banks, American Society of Hematology, Children's Oncology Group, and Eastern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Sharada A Sarnaik, MBBS  Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Attending Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Association of Blood Banks, American Association of University Professors, American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD  Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgments

The authors acknowledge valuable personal communication with Dr. Robert I White Jr, medical director of Yale AVM and HHT Center, deemed an HHT Center of Excellence by the HHT Foundation International.

The authors and editors of Medscape Reference also gratefully acknowledge the contributions of previous authors Kent Stobart, MD, and Norman A Silver, MD, to the development and writing of the source article.

References

  1. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. Apr 23 2010;[Medline].

  2. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Journal of Medical Genetics. Feb 2006;43(2):97-110. [Medline].

  3. Letteboer TG, Mager HJ, Snijder RJ, et al. Genotype - phenotype relationship in Hereditary Hemorrhagic Telangiectasia. J Med Genet. 2005;Sep 9 (Epub ahead of print):[Medline].

  4. Sabba C, Pasculli G, Suppressa P, et al. Life expectancy in patients with hereditary haemorrhagic telangiectasia. Quarterly Journal of Medicine. May 2006;99(5):327-334. [Medline].

  5. Khalid SK, Pershbacher J, Makan M, Barzilai B, Goodenberger D. Worsening of nose bleeding heralds high cardiac output state in hereditary hemorrhagic telangiectasia. Am J Med. Aug 2009;122(8):779.e1-9. [Medline].

  6. Hoag JB, Terry P, Mitchell S, Reh D, Merlo CA. An epistaxis severity score for hereditary hemorrhagic telangiectasia. Laryngoscope. Apr 2010;120(4):838-43. [Medline].

  7. Lacombe P, Lagrange C, Beauchet A, et al. Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. Chest. Apr 2009;135(4):1031-7. [Medline].

  8. Mohler ER, Doraiswamy V, Sibley A et al. Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia. Genetics in Medicine. May 2009;11(5):356-8.

  9. Shovlin CL, Sulaiman NL, Govani FS, Jackson JE, Begbie ME. Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism. Thromb Haemost. Nov 2007;98(5):1031-9. [Medline].

  10. [Guideline] Adler DG, Leighton JA, Davila RE, et al. ASGE guideline: The role of endoscopy in acute non-variceal upper-GI hemorrhage. Gastrointest Endosc. Oct 2004;60(4):497-504. [Medline].

  11. de Gussem EM, Snijder RJ, Disch FJ, et al. The effect of N-acetylcysteine on epistaxis and quality of life in patients with HHT: a pilot study. Rhinology. Mar 2009;47(1):85-8. [Medline].

  12. Yaniv E, Preis M, Hadar T, Shvero J, Haddad M. Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. Laryngoscope. Feb 2009;119(2):284-8. [Medline].

  13. Bose P, Holter JL, Selby GB. Bevacizumab in hereditary hemorrhagic telangiectasia. N Engl J Med. May 14 2009;360(20):2143-4. [Medline].

  14. Massoud OI. Resolution of hereditary hemorrhagic telangiectasia and anemia with prolonged alpha-interferon therapy for chronic hepatitis C. J Clin Gastroenterol. 2004;38(4):377-9. [Medline].

  15. Wheatley-Price P, Shovlin C, Chao D. Interferon for metastatic renal cell cancer causing regression of hereditary hemorrhagic telangiectasia. J Clin Gastroenterol. Apr 2005;39(4):344-5. [Medline].

  16. Shovlin CL, Sodhi V, McCarthy A, et al. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG. Aug 2008;115(9):1108-15. [Medline].

  17. Layton KH, Kallmes DF, Gray LA, Cloft HJ. Endovascular treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia. American Journal of Neuroradiology. May 2007;28(5):885-8. [Medline].

  18. Lesnik GT, Ross DA, Henderson KJ, Joe JK, Leder SB, White RI Jr. Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. American Journal of Rhinology. May 2007;21(3):312-5. [Medline].

  19. Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. Mar 2008;63(3):259-66. [Medline].

  20. Buscarini E, Plauchu H, Garcia Tsao G, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver International. Nov 2006;26(9):1040-6. [Medline].

  21. Lerut J, Orlando G, Adam R, et al. Liver Transplantation for Hereditary Hemorrhagic Telangiectasia: Report of the European Liver Transplant Registry. Annals of Surgery. Dec 2006;244(6):854-864. [Medline]. [Full Text].

 
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Typical symptoms in a patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the cheeks.
Close-up view of typical symptoms of patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the lips.
Close-up view of typical symptoms in a patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the cheeks.
 
 
 
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