Genetics of Klippel-Trenaunay-Weber Syndrome Follow-up

  • Author: Bruce Buehler, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Apr 16, 2012
 

Complications

  • For complications of Klippel-Trenaunay-Weber syndrome, see Clinical.
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Prognosis

  • Recognition of the spectrum of severity is important, both in venous disease and in limb hypertrophy.
    • Jacob et al found that the rate of progression of limb length discrepancy was neither uniform nor predictable.[7] In Jacob et al's series, only 11% of patients had hypertrophy severe enough to warrant epiphysiodesis.
    • Amputation of an extremity is rarely necessary.
    • Patients with Klippel-Trenaunay syndrome (KTS) face a lifetime of potential problems, including cellulitis, lymph seepage, gangrene, skin breakdown, thrombophlebitis, and internal and superficial hemorrhage.
  • Parkes Weber syndrome presents more severe problems, with hypertrophy, lymphedema, and cardiac hypertrophy. In one study by Robertson, 1 of 28 patients died from cardiac failure, and 5 of 28 required amputation of an extremity.[3]
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Patient Education

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Contributor Information and Disclosures
Author

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.

Specialty Editor Board

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: American Society for Biochemistry and Molecular Biology, Environmental Mutagen Society, Genetics Society of America, and Radiation Research Society

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.

Margaret M McGovern, MD, PhD  Professor and Chair of Pediatrics, Stony Brook University, New York

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

Disclosure: Genzyme Grant/research funds PI

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

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.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author James H Tonsgard, MD, to the original writing and development of this article.

References

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  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. Jan 2012;66(1):71-7. [Medline].

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

  4. 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].

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

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

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

  10. 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. Jun 14 1996;63(3):426-7. [Medline].

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

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

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

  14. 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. Dec 1976;63(12):899-906. [Medline].

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

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

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

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

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

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

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

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

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

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

 
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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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