52 Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay syndrome, KTS
Combined vascular anomalies of the capillaries, veins and lymphatics; varicosities of unusual distribution;
limb enlargement
Frequency: Over 1500 cases recorded.
Genetics
Sporadic, autosomal dominant (OMIM 149000), or mosaic homozygosity (the trait would only be ex- pressed when a somatic mutation occurs in the nor- mal allele). Some cases are caused by mutations in the VG5Q gene at 5q13.3.
Clinical Features
• Large cutaneous capillary hemangiomas
• Venous varicosities (beginning during infancy or childhood), most commonly involving primarily the foot and extending proximally to a varying degree (full leg in 35%); intermittent throm- bophlebitis (50%); pulmonary embolism (10%)
• Lymphatic malformations (70%), lymphedema of a lower limb, protein-losing enteropathy (due to involvement of intestine)
• Asymmetrical limb enlargement, one lower limb being involved in nearly all cases; soft tissue and skeletal hypertrophy; leg-length discrepancy, compensatory scoliosis
• Macrodactyly
• Asymmetrical pigmentation over trunk and limbs, eczema, hyperhidrosis, cutaneous atrophy
• Brain hemihyperplasia
• Renal artery aneurysm, renal pelvic hemangiomas
• Hydrops fetalis
• Hematuria (11%), rectal or colonic hemorrhage (13%), and vaginal, vulval or penile bleeding
Differential Diagnosis
• Parkes-Weber syndrome (arteriovenous fistulas, venous malformations uncommon, lymphatic malformations absent)
• Sturge-Weber syndrome (capillary malformation of leptomeninges + “port-wine” capillary malfor- mation of facial skin on ipsilateral side)
• Proteus syndrome
Radiographic Features Limbs
• Asymmetrical limb enlargement
• Cortical thickening
• Macrodactyly
• Syndactyly, polydactyly
• Leg length discrepancy Spine
• Kyphoscoliosis Pelvis
• Hip dislocation
Bibliography
Aelvoet GE, Jorens PG, Roelen LM. Genetic aspects of the Klip- pel-Trénaunay syndrome. Br J Dermatol 1992; 126: 603–7 Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P,
Hunter D. Klippel-Trénaunay syndrome. Am J Med Genet 1998; 79: 319–26
Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I. A new case of Klippel-Trénaunay-Weber (KTW) syndrome:
evidence of autosomal dominant inheritance. Am J Med Genet 1996; 63: 426–7
Huang WJ, Creath CJ. Klippel-Trénaunay-Weber syndrome: lit- erature review and case report. Pediatr Dent 1994; 16: 231–5 Lorda-Sanchez I, Prieto L, Rodriguez-Pinilla E, Martinez-Frias ML. Increased parental age and number of pregnancies in Klippel-Trénaunay-Weber syndrome. Ann Hum Genet 1998; 62: 235–9
Mastroiacovo P, Dallapiccola B,Andria G, Camera G, Lungarot- ti MS. Difetti congeniti e sindromi malformative. McGraw- Hill, Milan, 1990
Samuel M, Spitz L. Klippel-Trénaunay syndrome: clinical fea- tures, complications and management in children. Br J Surg 1995; 82: 757–61
Servelle M. Klippel and Trénaunay’s syndrome: 768 operated cases. Ann Surg 1985; 201: 365–73
Viljoen DL. Klippel-Trénaunay-Weber syndrome (angio-os- teohypertrophy syndrome). J Med Genet 1988; 25: 250–2 Klippel-Trenaunay-Weber Syndrome
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Fig. 52.1 a, b. Patient 1, newborn. Asymmetrical hypertrophy of right lower limb, with large cutaneous capillary hemangiomas on trunk and limbs. (Reprinted, with permission, from Mastroiacovo et al. 1990)
Fig. 52.2. Patient 1, newborn. Note soft tissue hypertrophy and mild cortical thickening of the right lower limb
a b
Klippel-Trenaunay-Weber Syndrome 734
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Fig. 52.4 a, b. Patient 2, newborn. Note unilateral soft tissue and skeletal hypertrophy of right lower limb, with cutaneous syndactyly of toes 2 through 5
Fig. 52.3. Patient 1, newborn. Bi- lateral thumb hypoplasia, postaxi- al polydactyly and macrodactyly of digits 4 and 5 on right, and clin- odactyly of digits 2 and 5 on left hand
