eMedicine Specialties > Dermatology > Diseases of the Vessels

Klippel-Trenaunay-Weber Syndrome: Differential Diagnoses & Workup

Author: Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Contributor Information and Disclosures

Updated: Jun 2, 2009

Differential Diagnoses

Maffucci Syndrome
Proteus Syndrome

Workup

Imaging Studies

  • In many instances, a thorough history and physical examination are all that is required to diagnose Klippel-Trenaunay-Weber syndrome (KTWS). However, when complications are present, imaging studies can be useful.
  • Multidetector row computed tomography arteriography may be of value in the preoperative assessment of patients with KTWS.12
  • Evaluation of the deep venous system can be completed with duplex scanning contrast venography, ultrasonography, contrast venography and arteriography, and nuclear MRI studies.
    • Arteriography is especially helpful in the diagnosis of an arteriovenous fistula.
    • MRI is also helpful in imaging the soft tissue hypertrophy. In addition, magnetic resonance angiography can be very helpful in identifying and defining vascular malformations.
    • In the case of major limb length discrepancies, serial radiographic studies, including but not limited to scanograms, orthoroentgenograms, and CT scans, for measurement of limb length are necessary. Clinical measurements can only guarantee measurement within 0.5-1.0 cm, whereas radiographic examinations can be used to determine the exact differences to within 0.1 cm. These studies help to determine how fast a limb is growing and may help in determining proper timing for limb length equalization procedures.
    • Prenatal diagnosis by ultrasonography has been reported.
  • In lesions extending onto the perineum or abdomen, performing imaging studies can be helpful to rule out internal involvement. Vascular malformations have been reported throughout the gastrointestinal tract. Although this typically does not cause symptoms, gastrointestinal bleeding has been reported. Similarly, vascular malformations have also been reported within the genitourinary tract.

More on Klippel-Trenaunay-Weber Syndrome

Overview: Klippel-Trenaunay-Weber Syndrome
Differential Diagnoses & Workup: Klippel-Trenaunay-Weber Syndrome
Treatment & Medication: Klippel-Trenaunay-Weber Syndrome
Follow-up: Klippel-Trenaunay-Weber Syndrome
References
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Further Reading

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Keywords

Klippel-Trenaunay-Weber syndrome, KTWS, Parkes Weber syndrome, Klippel-Trenaunay syndrome, KTS, port-wine stain, varicose veins, bony and soft tissue hypertrophy, arteriovenous malformation

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Contributor Information and Disclosures

Author

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France
Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology and American Dermatological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Lester F Libow, MD, Dermatopathologist, South Texas Dermatopathology Laboratory
Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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