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Klippel-Trenaunay-Weber syndrome
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:
1) cutaneous
- phlebectasia
- arteriovenous aneurysms
- nevus flammeus (port-wine-stain) typically on extremities
- telangiectasias
- cavernous hemangioma
- hemangiomas in a dermatomal distribution
2) developmental anomalies
- nevus unius lateris
- syndactylism
- polydactylism
Complications:
- deep vein thrombosis
- pulmonary embolism
- gastrointestinal bleeding [3]
Management:
1) treatment is symptomatic
2) Laser surgery can diminish or erase some skin lesions
3) surgery may correct discrepancies in limb size, but orthopedic devices may be more appropriate
4) prognosis
a) limb enlargement progresses very rapidly until it suddenly stops
b) risk of infection is often higher in individuals with vascular malformations
Related
cavernous hemangioma (cavernoma, capillary venous lymphatic malformation, CVL, nevus cavernosus, vascular erectile tumor)
nevus flammeus (port-wine stain)
General
venous & lymphatic disease
capillary disease
bone disease; osteopathia
syndrome
Database Correlations
OMIM 149000
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: 14961121
- 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