KLIPPEL-TRENAUNAY-WEBER SYNDROME
DEFINITION:
A disorder classically characterized by the triad of cutaneous
hemangiomas, hemihypertrophy, and varicose veins.
EPIDEMIOLOGY:
- incidence: over 700 cases worldwide
- age of onset:
- the cutaneous lesions and hemihypertrophy are present at
birth or appear soon thereafter
- risk factors:
- sporadic but some cases may be familial
- M = F
PATHOGENESIS:
- first reported in 1900 by Klippel and Trenaunay
- also called Angio-Osteohypertrophy Syndrome
- if associated with arteriovenous fistulae then called
Parker-Weber Syndrome
2. Pathogenesis
- unknown etiology
- may be related to the abnormal regulation of soft tissue
growth factors
- the hemihypertrophy is due to hyperplasia of both bone and
soft tissue +/- vascular malformations
- atresia or hypoplasia of the deep veins may increase blood
flow through the more superficial veins resulting in varicose
veins
CLINICAL FEATURES:
- both superficial (port-wine stain, nevus flammeus) and
deep (cavernous) hemangiomas can be present
- can involve any part of the body with a predilection for
the limbs, trunk, buttock, and abdomen
- usually asymmetric but can be bilateral
- are usually extensive
- the port-wine stain can also occur in a 5th cranial nerve
distribution
- hemangiomas can also occur in the brain, eyes, tongue,
lung, liver, and gastrointestinal and urinary tracts
2. Others
- Cutis marmorata
- hyperpigmented nevi and streaks
- telangiectasia
2. Hemihypertrophy
- overgrowth of an affected area may be present at birth
and/or develop gradually
- in 75% of cases, one limb is affected
- one or more areas can be affected
- overgrowth may extend across the midline of the body but is
usually asymmetric
- may involve a portion of or the entire extremity
- overgrowth usually occurs in areas affected by the
hemangiomas (but not always)
- polydactyly, oligodactyly, syndactyly, or macrodactyly may
be present in the affected limb
- involved region may be painful and/or associated with joint
discomfort and chronic skin problems
- may also see enlarged genitalia, i.e., clitoris
3. Varicose Veins
- may become evident after the onset of walking
- may result in aseptic cellulitis and varicose ulcer
formation
4. Complications
- arteriovenous fistulae +/- audible bruits
- congestive heart failure (due to large arteriovenous
fistulae)
- lymphoedema (due to malformed lymphatic vessels)
- thrombophlebitis
2. Craniofacial
- asymmetric facial hypertrophy
- microcephaly or macrocephaly
- eye anomalies: cataracts, glaucoma, heterochromia, Marcus
Gunn pupil
- seizures or occasionally mental retardation in those with
facial hemangiomas
3. Gastrointestinal
- rectal bleeding (due to gastrointestinal tract hemangiomas)
- intestinal lymphangiectasia with protein-loosing
enteropathy
4. Others
- hematuria (due to urinary tract hemangiomas)
- joint dislocation within affected limbs
- gangrene of affected areas
- small stature or tall stature
INVESTIGATIONS:
- MRI, CT, arteriograms and venograms can be used to delineate
the extent of vascular malformations
2. Complete Blood Count
- occasionally thrombocytopenia
MANAGEMENT:
- compression bandages or elastic stockings for venous
varicosities and reducing venous stasis
- orthotic devices for leg-length differences
- medical management of ulcers, infections, or other chronic
skin conditions
2. Surgical
- to correct significant leg-length differences, i.e.,
epiphyseal fusion
- to remove significant arteriovenous fistulae
- stripping of varicose veins is contraindicated
- limb amputation for severe ulcers, infections, secondary
clotting difficulties
3. Prognosis
ADDITIONAL REFERENCES:
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