Klippel-Trenaunay-Weber syndrome
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Introduction
Local overgrowth of soft tissue & bone with enlargement of an extremity.
Pathology
- malformations of capillary (98%), venous (72%) & lymphatic (11%) vessels
- bony & soft tissue hypertrophy
Genetics
- associated with mutation in gene for VG5Q protein
- some associated with mutation in gene for PIK3CA
Clinical manifestations
- cutaneous
- phlebectasia
- arteriovenous aneurysms
- nevus flammeus (port-wine-stain) typically on extremities
- telangiectasias
- cavernous hemangioma
- hemangiomas in a dermatomal distribution
- developmental anomalies
Complications
Management
- treatment is symptomatic
- Laser surgery can diminish or erase some skin lesions
- surgery may correct discrepancies in limb size, but orthopedic devices may be more appropriate
- prognosis
- limb enlargement progresses very rapidly until it suddenly stops
- risk of infection is often higher in individuals with vascular malformations
More general terms
Additional terms
- cavernous hemangioma (cavernoma, capillary venous lymphatic malformation, CVL, nevus cavernosus, vascular erectile tumor)
- nevus flammeus (port-wine stain)
References
- ↑ Color Atlas & Synopsis of Clinical Dermatology, Common & Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 154-55
- ↑ Tian et al Nature 427:640-5, 2004 PMID: https://www.ncbi.nlm.nih.gov/pubmed/14961121
- ↑ 3.0 3.1 NEJM Knowledge+ Question of the Week. Jan 10, 2017 http://knowledgeplus.nejm.org/question-of-week/4789/
- ↑ NINDS Klippel-Trenaunay Syndrome Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Klippel-Trenaunay-Syndrome-KTS-Information-Page
Patient information
Klippel-Trenaunay-Weber syndrome patient information