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Genetics of Klippel-Trenaunay-Weber Syndrome Differential Diagnoses

  • Author: Ravi Sunderkrishnan, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Aug 18, 2016
 
 

Diagnostic Considerations

These include the following:

  • Hemihypertrophy
  • Congenital lymphatic obstruction
  • Proteus syndrome
  • Kaposiform hemangioendothelioma

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Ravi Sunderkrishnan, MD Fellow in Nephrology, Thomas Jefferson University Hospital

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

Acknowledgements

Bruce Buehler, MD Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

James H Tonsgard, MD Associate Professor, Department of Pediatrics and Neurology, University of Chicago; Consulting Staff, Department of Neurology, Little Company of Mary Hospital; Consulting Staff, Department of Neurology, Lakeshore Hospital

Disclosure: Nothing to disclose.

References
  1. Purkait R, Samanta T, Sinhamahapatra T, Chatterjee M. Overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome. Indian J Dermatol. 2011 Nov. 56(6):755-7. [Medline]. [Full Text].

  2. Douma RA, Oduber CE, Gerdes VE, van Delden OM, van Eck-Smit BL, Meijers JC, et al. Chronic pulmonary embolism in Klippel-Trenaunay syndrome. J Am Acad Dermatol. 2012 Jan. 66(1):71-7. [Medline].

  3. Sung HM, Chung HY, Lee SJ, et al. Clinical Experience of the Klippel-Trenaunay Syndrome. Arch Plast Surg. 2015 Sep. 42 (5):552-8. [Medline]. [Full Text].

  4. Rohany M, Shaibani A, Arafat O, et al. Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases. AJNR Am J Neuroradiol. 2007 Mar. 28(3):584-9. [Medline].

  5. Robertson DJ. Congenital arteriovenous fistulae of the extremities. Ann R Coll Surg Engl. 1956. 18:73-98.

  6. Ziyeh S, Spreer J, Rossler J, et al. Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. Eur Radiol. 2004 Nov. 14(11):2025-9. [Medline].

  7. Yazaki M, Kaneko K, Tojo K, Miyazaki D, Shimojima Y, Ueda K. An unusual case of Klippel-Trénaunay-Weber syndrome presenting with portosystemic encephalopathy. Intern Med. 2008. 47(18):1621-5. [Medline].

  8. Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I. A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. Am J Med Genet. 1996 Jun 14. 63(3):426-7. [Medline].

  9. Phadke SR. Klippel Trenaunay syndrome. Huret JL, ed. Atlas of Genetics and Cytogenetics in Oncology and Haematology. 2009. 153-5. [Full Text].

  10. Chen D, Li L, Tu X, et al. Functional characterization of Klippel-Trenaunay syndrome gene AGGF1 identifies a novel angiogenic signaling pathway for specification of vein differentiation and angiogenesis during embryogenesis. Hum Mol Genet. 2013 Mar 1. 22(5):963-76. [Medline].

  11. Wang Q, Timur AA, Szafranski P, et al. Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenet Cell Genet. 2001. 95(3-4):183-8. [Medline]. [Full Text].

  12. Kashiwada T, Fukuhara S, Terai K, et al. ß-catenin-dependent transcription is central to Bmp-mediated formation of venous vessels. Development. 2015 Jan 6. [Medline].

  13. Brouillard P, Vikkula M. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15. 16 Spec No. 2:R140-9. [Medline].

  14. Servelle M. Klippel and Trenaunay's syndrome. 768 operated cases. Ann Surg. 1985 Mar. 201(3):365-73. [Medline].

  15. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc. 1998 Jan. 73(1):28-36. [Medline].

  16. Güngor Gündogan T, Jacquemyn Y. Klippel-Trenaunay syndrome and pregnancy. Obstet Gynecol Int. 2010. 2010:706850. [Medline]. [Full Text].

  17. Neubert AG, Golden MA, Rose NC. Kasabach-Merritt coagulopathy complicating Klippel-Trenaunay-Weber syndrome in pregnancy. Obstet Gynecol. 1995 May. 85(5 Pt 2):831-3. [Medline].

  18. Berry SA, Peterson C, Mize W, et al. Klippel-Trenaunay syndrome. Am J Med Genet. 1998 Oct 2. 79(4):319-26. [Medline].

  19. Cabrera J, Cabrera J, Garcia-Olmedo MA, Redondo P. Treatment of venous malformations with sclerosant in microfoam form. Arch Dermatol. 2003 Nov. 139(11):1409-16. [Medline].

  20. Cohen MM. Klippel-Trenaunay syndrome. Am J Med Genet. 2000 Jul 31. 93(3):171-5. [Medline].

  21. Huiras EE, Barnes CJ, Eichenfield LF, et al. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics. 2005 Oct. 116(4):e596-600. [Medline].

  22. Kasabach HH, Merritt KK. Capillary hemangioma with extensive purpura: a report of a case. Am J Dis Child. 1940. 59:1063-70.

  23. Kinmonth JB, Young AE, Edwards JM, et al. Mixed vascular deformities of the lower limbs, with particular reference to lymphography and surgical treatment. Br J Surg. 1976 Dec. 63(12):899-906. [Medline].

  24. Klippel M, Trenaunay P. Du naevus variqueux osteohypertrophique. Arch Gen Med. 1900. 185:641-72.

  25. Lee A, Driscoll D, Gloviczki P, et al. Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. Pediatrics. 2005 Mar. 115(3):744-9. [Medline].

  26. Maari C, Frieden IJ. Klippel-Trenaunay syndrome: the importance of "geographic stains" in identifying lymphatic disease and risk of complications. J Am Acad Dermatol. 2004 Sep. 51(3):391-8. [Medline].

  27. Samuel M, Spitz L. Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg. 1995 Jun. 82(6):757-61. [Medline].

  28. Stephan MJ, Hall BD, Smith DW, Cohen MM Jr. Macrocephaly in association with unusual cutaneous angiomatosis. J Pediatr. 1975 Sep. 87(3):353-9. [Medline].

  29. Stickler GB. Klippel-Trenaunay syndrome. Gomez MR, ed. Neurocutaneous Diseases: A Practical Approach. Butterworth-Heinemann; 1987. 368-75.

  30. Tian XL, Kadaba R, You SA, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature. 2004 Feb 12. 427(6975):640-5. [Medline].

  31. Weber PF. Angioma: formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol. 1907. 19:231-5.

  32. Whelan AJ, Watson MS, Porter FD, Steiner RD. Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Am J Med Genet. 1995 Dec 4. 59(4):492-4. [Medline].

  33. Young AE, Ackroyd J, Baskerville P. Combined vascular malformations. Mulliken JB, Young AE, eds. Vascular Birthmarks: Hemangiomas and Malformations. WB Saunders Co; 1988. 246-74.

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Klippel-Trenaunay syndrome in a young person. Note the port-wine stain extending to the buttocks. These lesions can be associated with venous malformations involving the rectum and bladder.
 
 
 
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