Klippel-trénaunay syndrome Q87.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 22.07.2021

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Synonym(s)

Angiectatic giant growth; angio-osteohypertrophic syndrome; Giant growth angiectatic; haemangiectasia hypertrophicans; Klippel-Trénaunay-Weber syndrome; KTS; Nevus varicosus osteohypertrophicus; Ollier-Klippel-Trenaunay symptom complex; Ollier-Klippel-Trénaunay symptom complex; Osteoangiohypertrophy Syndrome; Quadrant Syndrome

History
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Geoffroy-Saint Hilaire, 1832; Klippel and Trénaunay, 1900; Weber, 1907

Definition
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Rare, mostly sporadically occurring, syndromal vascular (capillary/vernous/lymphatic) malformation, characterized by the triad:

  1. unilateral capillary malformation(naevus flammeus) of a limb (usually lower limb)
  2. primary varicosis
  3. Giant growth (more rarely, <10%, is a hypotrophy) of the affected extremity(ies)

Remark: hemodynamically relevant AV-fistulas are not included. However, the transitions to Parkes Weber syndrome are fluid.

Occurrence/Epidemiology
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Worldwide occurrence, panethnic.

Etiopathogenesis
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So far, the etiopathogenesis is unclear. Little convincingly described are mutations of the VG5Q gene as molecular cause. VG5Q codes for an angiogenic factor. At least partially, PIK3CA mutations can apparently also be detected in the mosaic (see PTEN gene below).

Manifestation
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The capillary malformation of the skin (nevus flammeus) is already present at birth and increases noticeably from the 2nd decade of life.

In the physical growth phase, syndromic vascular malformations, giant stature and orthopedic problems (pelvic obliquity) come into clinical focus.

Thus, Klippel-Trénaunay syndrome appears in childhood and early adolescence as an (apparently) monoorganic vascular malformation (port-wine stain) of the skin.

There is no firm evidence that the extent of the capillary malformation of the skin is associated with the extent of the systemic involvement (lymphedema, overgrowth phenomena with hypertrophy of skeleton and soft tissues).

Dermatologically little known are the cases of vascular malformations of the extremities without any skin involvement.

Localization
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Mostly asymmetrical infestation of a limb or the face. Less frequent are oligosymptomatic, bilateral, alternating and cross-dissociated manifestations.

Clinical features
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Skin changes in the affected extremity:

Extracutaneous manifestations:

  • Overgrowth phenomena with dysproportionate giant growth and soft tissue and bone hypertrophy of the affected limb. Anomalies of the deep leg veins, angiomatous enforcement of the limb muscles. Skeletal changes (pelvic obliquity, spinal deformity).
  • Less common are rectal bleeding or hematuria with colonic, rectal or bladder involvement.

Diagnosis
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Duplex-sonographic and angiographic imaging of the vessels in affected areas to detect or exclude arteriovenous fistulas Radiological diagnosis of the affected areas in soft tissue and bone hypertrophy should be considered.

Complication(s)
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Possible cardiac insufficiency with large extent of arterio-venous shunts; tendency to erysipelas.

Therapy
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Integument: Symptomatic treatment of bacterial and mycotic secondary infections arising from lymphedema. Preventive regular skin care (e.g. with Ungt. emulsif. aq.). Immediate sanitation of possible entry sites. Treatment of the oedemas by means of complex extended decongestive therapy. It is also important to treat the varices with surgical repair, sclerotherapy or ligation. If necessary, laser therapy of the nevus flammeus with argon laser or dye laser.

Extracutaneous manifestations: Vascular anomalies should be repaired at an early stage, if possible, in order to avoid secondary damage (e.g. cardiac volume load due to arterio-venous shunt) and to reduce the risk of bleeding and embolism. Radiological-interventional procedures (e.g. microembolisation) as well as vascular surgical measures can be considered.

In addition, regular monitoring (MRI) of the bone sections in the area of giant growth and bone hypertrophy (in addition to orthopaedic changes (e.g. pelvic obliquity), patients are prone to microbial colonisation due to trophic disorders of the skin and lymphoedema, which can lead to osteomyelitis).

Progression/forecast
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Favourable (no progression, no dominance of haemodynamic factors).

Note(s)
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Due to the increased blood volume of the altered extremity, the extremity sweats more. This is perceived as unpleasant by some patients. On the foot, the patient may be bothered by an increased smell of sweat.

Literature
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  1. Aggarwal K et al (2003) Klippel-Trenaunay syndrome with a life-threatening thromboembolic event. J Dermatol 30: 236-240
  2. Geoffroy Saint-Hilaire I (1832) Histoire générale et particulière des anomalies de l'organisation chez l'homme et les animaux He was responsible for the research on the caractères, the classification, the physiological and pathological influences, the general reports, the lois and the causes of the monstruosity, the variability and the conformity and trait of the theory. Baillière (Paris) 1832-1837
  3. Gianlupi A et al (1999) Recurrent pulmonary embolism associated with Klippel-Trenaunay Weber syndrome. Chest 115: 1199-1201
  4. Happle R et al (1993) Klippel-Trenaunay syndrome: is it a paradominant trait? Br J Dermatol 128: 465.
  5. Helmbold P et al (1994) Klippel-Trenaunay syndrome with intestinal involvement and mammary carcinoma in a man. Act Dermatol 20: 288-291
  6. Klippel M, Trenaunay P (1900) Du naevus variqueux osteohypertrophique. Arch gene Med (Paris) 3: 641-642
  7. Larralde M et al (2014) Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. Int J Dermatol 53:458-461.
  8. Lee BB et al (2014) Diagnosisvand treatment of venous malformations. consensus document of the international union of phlebology (iup): updated-2013 Int Angiol PubMed PMID: 24961611.
  9. Macmurdo CF et al (2016) RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. Am J Med Genet doi: 10.1002/ajmg.a.37613
  10. Sahinoglu Z et al (2003) Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. At J Perinatol 20: 1-6
  11. Oduber CE et al (2013) The persistent embryonic vein in Klippel-Trenaunay syndrome. Vasc Med 18:185-191.
  12. Samuel M et al (1995) Klippel-Trenaunay Syndrome - Clinical features, complications and management in children. Br J Surg 82: 757-761
  13. Tian XLet al. (2009 Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 427:640-645
  14. Weber FP (1907) Angioma formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatology (Oxford) 19: 231-235
  15. Weber FP (1918) Hemangiectatic hypertrophy of limbs - congenital phlebarteriectasis and so-called congenital varicose veins. Brit J Child Dis 25: 13.

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Last updated on: 22.07.2021