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Klippel-Trénaunay Syndrome (Klippel-Trénaunay-Weber Syndrome)

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Neurocutaneous Disorders

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Abstract

Klippel-Trénaunay syndrome (KTS) is a rare congenital overgrowth syndrome caused by somatic mutations in the phosphatidylinositol-3-kinase PIK3CA gene. The disorder belongs to the PIK3CA-related overgrowth spectrum. KTS is observed in 1 out of 30,000 births (overall incidence: 2–5/100,000) and has no sex predilection. Clinically, KTS is characterized by the triad of cutaneous capillary malformation, soft tissue, and bony hypertrophy of the extremity. It generally affects only one extremity causing limb asymmetry and varicose veins, multiple aneurysms, or other deep venous system malformations. Varicose veins observed in patients with KTS may be noticed in early infancy and progress until adolescence. The cutaneous malformations or hemangiomas (85% of the cases), nearly all of which involve the lower extremities, usually affect one extremity. The clinical features, diagnosis, and management options are reviewed in this chapter.

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References

  1. Klippel M, Trenaunay P. Du naevus variqueux ostéo-hypertrophique. Arch Gen Med (Paris). 1900;185:641–72.

    Google Scholar 

  2. Weber FP. Angioma formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol. 1907;19:231–5.

    Google Scholar 

  3. Weber FP. Hemangiectatic hypertrophy of limbs—congenital phlebarteriectasis and so-called congenital varicose veins. Br J Child Dis. 1918;25:13.

    Google Scholar 

  4. Cohen MM Jr. Klippel-Trenaunay syndrome. Am J Med Genet. 2000;93:171–5.

    Article  Google Scholar 

  5. Rohn PR. Klippel-Trenaunay syndrome. Tech Vasc Interv Radiol. 2019;22:100634.

    Article  Google Scholar 

  6. Simkin R, Esteban C, Bulloj R. Klippel-Trenaunay syndrome. Phlebologie. 1990;43:723–31.

    CAS  PubMed  Google Scholar 

  7. Snow RD, Lecklitner ML. Musculoskeletal findings in Klippel-Trenaunay syndrome. Clin Nucl Med. 1991;16:928–30.

    Article  CAS  Google Scholar 

  8. von Greber R, Grantzow R. Das Klippel-Trenaunay syndrome. Sozialpädiatrie. 1994;9:521.

    Google Scholar 

  9. Samuel M, Spitz L. Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg. 1995;82:757–61.

    Article  CAS  Google Scholar 

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

    Article  Google Scholar 

  11. Oduber CE, Young-Afat DA, van der Wal EC, et al. The persistent embryonic vein in Klippel-Trenaunay syndrome. Vasc Med. 2013;18:185–91.

    Article  Google Scholar 

  12. Samini M, Lorette G. Klippel-Trenaunay syndrome. Presse Med. 2010;39:847–94.

    Article  Google Scholar 

  13. Torregrossa A, Marti-Bonmati L, Higueras V, et al. Klippel-Trenaunay syndrome: frequency of cerebral and cerebellar hemihypertrophy on MRI. Neuroradiology. 2000;42:420–3.

    Article  Google Scholar 

  14. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc. 1998;73:28–36.

    Article  CAS  Google Scholar 

  15. Ulrich S, Fishler M, Walder B, et al. Klippel-Trenaunay syndrome with small vessel pulmonary arterial hypertension. Thorax. 2005;60:971–3.

    Article  CAS  Google Scholar 

  16. Huiras EE, Barnes CJ, Einchenfield LF, et al. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics. 2005;116:e596–600.

    Article  Google Scholar 

  17. Husmann DA, Rathburn SR, Driscoll DJ. Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae. J Urol. 2007;177:1244–9.

    Article  CAS  Google Scholar 

  18. Sreekar H, Dawre S, Petkar KS, et al. Diverse manifestations and management options in Klippel-Trenaunay syndrome: a single centre 10-year experience. J Plast Surg Hand Surg. 2013;47:303–7.

    Article  Google Scholar 

  19. Rebarber A, Roman AS, Roshan D, Blei F. Obstetric management of Klippel-Trenaunay syndrome. Obstet Gynecol. 2004;104:1205–8.

    Article  Google Scholar 

  20. Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg. 2008;60:217–23.

    Article  CAS  Google Scholar 

  21. Hergesell K, Kröger K, Petruschkat S, et al. Klippel-Trenaunay syndrome and pregnancy. Int Angiol. 2003;22:194–8.

    CAS  PubMed  Google Scholar 

  22. Maffucci A. Di un caso di encondroma ed angioma multiplo. Movimento Medico Chirurgico. 1881;3:399–412, 565–75.

    Google Scholar 

  23. Klippel SM. Trenaunay’s syndrome. 768 operated cases. Ann Surg. 1985;201:365–73.

    Article  Google Scholar 

  24. Enjolras O, Wassef M, Merland JJ. Maffucci syndrome: a false venous malformation? A case with hemangioendothelioma with fusiform cells. Ann Dermatol Venereol. 1998;125:512–5.

    CAS  PubMed  Google Scholar 

  25. Alwalid O, Makamure J, Cheng Q-G, et al. Radiological aspects of Klippel-Trenaunay syndrome: a case series with review of literature. Curr Med Sci. 2018;38:925–31.

    Article  Google Scholar 

  26. Oduber CE, van Beers EJ, Bresser P, et al. Venous thromboembolism and prothrombotic parameters in Klippel-Trenaunay syndrome. Neth J Med. 2013;71:246–52.

    CAS  PubMed  Google Scholar 

  27. Jorgenson RJ, Darby B, Patterson R, Trimmer KJ. Prenatal diagnosis of the Klippel-Trenaunay-Weber syndrome. Prenat Diagn. 1994;14:989–92.

    Article  CAS  Google Scholar 

  28. Chadha R. Management of Pregnancy with Klippel-Trenaunay-Weber syndrome: a case report and review. Case Rep Obstet Gynecol. 2018;2018:6583562.

    PubMed  PubMed Central  Google Scholar 

  29. Ziyeh S, Spreer J, Rossler J, et al. Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. Eur Radiol. 2004;14:2025–9.

    Article  CAS  Google Scholar 

  30. Ishikawa K, Yamamoto Y, Funayama E, et al. Wound-healing problems associated with combined vascular malformations in Klippel-Trenaunay syndrome. Adv Wound Care (New Rochelle). 2019;8:246–55.

    Article  Google Scholar 

  31. McCarthy RE, Lytle JO, Van Devanter S. The use of total circulatory arrest in the surgery of giant hemangioma and Klippel-Trenaunay syndrome in neonates. Clin Orthop. 1993;289:237–42.

    Article  Google Scholar 

  32. Sivaprakasam MJ, Dolak JA. Anesthetic and obstetric considerations in a parturient with Klippel-Trenaunay syndrome: considerations anesthesique setobstetriques chez uneparturien teatteinte du syndrome de Klippel-Trenaunay. Can J Anaesth. 2006;53:487–91.

    Article  Google Scholar 

  33. John PR. Klippel-Trenaunay syndrome. Tech Vasc Interv Radiol. 2019;22:100634.

    Article  Google Scholar 

  34. McGrory BJ, Amadio PC. Klippel-Trenaunay syndrome: orthopaedic considerations. Orthop Rev. 1993;22:41–50.

    CAS  PubMed  Google Scholar 

  35. Lee A, Driscoll D, Gloviczki P, et al. Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. Pediatrics. 2005;115:744–9.

    Article  Google Scholar 

  36. Wang SK, Drucker NA, Gupta AK, et al. Diagnosis and management of the venous malformations of Klippel-Trenaunay syndrome. J Vasc Surg Venous Lymphat Disord. 2017;5:587–95.

    Article  Google Scholar 

  37. Blatt J, Finger M, Price V, et al. Cancer risk in Klippel-Trenaunay syndrome. Lymphat Res Biol. 2019;17:630–6.

    Article  Google Scholar 

  38. Patel N, Swana H, Johnson C. Genitourinary involvement in pediatric patients with Klippel-Trenaunay syndrome. Clin Imaging. 2020;67:117–20.

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

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  1. Christos P. Panteliadis
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Correspondence to Christos P. Panteliadis .

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Editors and Affiliations

  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  2. Department of Neurology, University of Washington, Seattle, WA, USA

    Ramsis Benjamin

  3. Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Christian Hagel

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Panteliadis, C.P. (2022). Klippel-Trénaunay Syndrome (Klippel-Trénaunay-Weber Syndrome). In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_9

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  • DOI: https://doi.org/10.1007/978-3-030-87893-1_9

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-87892-4

  • Online ISBN: 978-3-030-87893-1

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