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Year : 2019  |  Volume : 12  |  Issue : 4  |  Page : 356-358  

Klippel-Trenaunay Weber syndrome

1 Department of Pathology, UP University of Medical Sciences, Etawah, Uttar Pradesh, India
2 Department of Pathology, Rohilkhand Medical College, Bareilly, Uttar Pradesh, India

Date of Submission11-Sep-2018
Date of Acceptance11-Apr-2018
Date of Web Publication8-Jul-2019

Correspondence Address:
Savita Agarwal
Department of Pathology, UP University of Medical Sciences, Saifai, Etawah - 206 130, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_133_18

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Klippel–Trenaunay–Weber syndrome (KTWS) is a rare congenital malformation, characterized by constellation of arteriovenous malformation, cutaneous capillary malformation, and skeletal or soft-tissue hypertrophy. The exact cause of KTWS is unknown. We present a case of a 1 ½-year-old boy with multiple swellings over the right lower extremity since birth which increased in size in proportion to his general growth. He was diagnosed clinically as Klippel–Trenaunay syndrome (KTS) which on Doppler imaging and on histopathology showed the presence of a multichanneled slow-flowing arteriovenous malformation. KTWS should be distinguished from KTS since clinical features, management, and prognosis of these two entities are distinctly different. Although the diagnosis is primarily clinical, confirmation requires laboratory and imaging studies. The present case is being reported as an interesting case which highlights the fact that distinction between KTWS and KTS may sometimes be difficult.

Keywords: Arteriovenous malformation, Klippel–Trenaunay syndrome, Klippel–Trenaunay–Weber syndrome, soft-tissue hypertrophy, Sturge–Weber syndrome, varicose veins

How to cite this article:
Pandey P, Ralli M, Agarwal S, Agarwal R. Klippel-Trenaunay Weber syndrome. Med J DY Patil Vidyapeeth 2019;12:356-8

How to cite this URL:
Pandey P, Ralli M, Agarwal S, Agarwal R. Klippel-Trenaunay Weber syndrome. Med J DY Patil Vidyapeeth [serial online] 2019 [cited 2020 Nov 29];12:356-8. Available from: https://www.mjdrdypv.org/text.asp?2019/12/4/356/262228

  Introduction Top

Klippel–Trenaunay– Weber syndrome More Details (KTWS) is a rare congenital malformation, characterized by constellation of arteriovenous malformation, cutaneous capillary malformation, and skeletal or soft-tissue hypertrophy. It occurs mostly sporadically and over 1000 cases have been reported till date. KTWS should be distinguished from Klippel–Trenaunay syndrome (KTS) since clinical features, management and prognosis of these two entities, are distinctly different.[1]

  Case Report Top

A 1 ½-year-old boy presented with swelling over the dorsum of the right foot, on medial aspect of the right knee, and multiple bluish-red swellings since birth which increased in size in proportion to his general growth. There was no history of convulsions, fever, vomiting, or focal neurological deficit. The antenatal history was not significant, and there was no family history of similar complaints.

On examination, he had severe pallor. Skin examination revealed multiple, irregular, soft, nontender nodular swellings and multiple discrete 0.4 cm × 0.5 cm–0.5 cm × 0.7 cm-sized erythematous to dark blue-colored angiokeratomatous lesions on the right lower extremity. No bruit was heard on auscultation. This was associated with a bony and diffuse soft-tissue swelling of the right leg and a port wine stain, 3 cm × 3 cm in size on anterior and lateral aspects of the right thigh. Discrepancy in length was noted in the two lower extremities, the right leg measuring 2.5 cm longer and 5 cm greater in girth than the left. Systemic examination was normal.

On investigation, his hemoglobin was 6.5 g/dl, with hypochromic microcytic anemia and normal coagulation profile. X-ray of the right lower limb revealed bony and soft-tissue hypertrophy. Color Doppler imaging of the limb revealed dilated superficial local venous system with collaterals of the right lower limb with hypertrophy and a multichanneled slow-flowing arteriovenous malformation with evidence of thrombosis [Figure 1]. Ultrasonography of the abdomen was normal.
Figure 1: Ultrasonography of the limb showing large dilated superficial venous system with collaterals

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Excision biopsy of the swelling over the dorsum of the right foot was done and sent for histopathology. The gross examination revealed an irregular skin covered nodule of size 6 cm × 6 cm × 2 cm; cream-colored outer surface, felt firm on cutting and cut surface showed the variegated appearance of white and dark brown hemorrhagic areas. Microscopic examination revealed dilated and thick-walled vascular channels with intervening stroma, intimal thickening, and ectasia of vessels [Figure 2]. At many places, the vascular communicating channels were also seen [Figure 3]. Diagnosis offered on histopathology was “angiomatoid malformation.”
Figure 2: Photomicrograph showing markedly dilated and congested vascular spaces with intervening fibrous stroma and hemosiderin deposits (H and E, ×200)

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Figure 3: Photomicrograph showing thick-walled ecstatic vessels filled with red cells, cavernous vascular spaces, and veins with irregular walls. Note the congested communicating vascular channels (H and E, ×100)

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He responded to treatment with blood transfusion, antibiotics, and hematinics. Surgical consultation for management of the limb enlargement and arteriovenous malformation was done.

  Discussion Top

In 1900, Maurice Klippel and Paul Trenaunay described a rare, congenital disorder having abnormalities in the mesodermal components clinically characterized by (a) capillary malformation (port wine stain); (b) soft-tissue and bone hypertrophy; and (c) atypical, mostly lateral varicosity.[2] In 1907, Frederick Parkes Weber described similar patients with arteriovenous fistulas. Since then, the names Klippel–Trenaunay and Klippel–Trenaunay Weber have been used interchangeably and indiscriminately.[3]

The exact cause of KTWS remains to be elucidated although several theories exist. Intrauterine damage to the sympathetic ganglia or intermediolateral tract causing dilatation of arteriovenous anastomoses,[4] abnormalities in the deep veins obstructing the venous flow,[5] and also mixed ectodermal and mesodermal dysplasia has been suggested as some of the possible underlying mechanisms.[6] The persistence of the embryonic vascular network, which usually regresses in the developing limb bud, could produce increased skin blood flow and temperature and an increase in size and number of veins.[6] The vascular malformation in the Parkes–Weber syndrome is an arteriovenous malformation which grows in proportion to the growth of the child and also in relation to the hemodynamic changes such as increased blood flow, causing vessel dilatation, obstruction, and thrombosis.

Arteriovenous malformations are progressive lesions, and their evolution is helped by puberty, pregnancy, infections, and trauma. These are usually high-flow malformations. They may be silent in the neonate or clinically may have a raised temperature, soft-tissue enlargement, or bruit on auscultation. Severe arteriovenous malformation may give rise to congestive heart failure.[7] Bone and soft-tissue changes led to enlargement of extremity in both length and width and may affect all bones in an extremity or limited to one or two bones. Soft-tissue hypertrophy may be limited to a localized mass on the back or chest, or it can be diffuse involving an entire arm or leg. It may be associated with macrodactyly, polydactyly, clinodactyly, and oligodactyly along with hemangiomas of the colon, bladder, spine, liver, and spleen. Our case did not reveal any such abnormality. The affection of the lower limb is 10–15 times more common than the upper limb.[1],[7]

Important differential diagnoses include KTS, Sturge–Weber syndrome, Maffucci syndrome, neurofibromatosis type 1 and Beckwith–Wiedemann syndrome, spondylocostal dysostoses, Poland syndrome, spondyloepiphyseal dysplasia and congenital, and short rib–polydactyl syndromes.[8] The persistence of embryonic vascular structures is compatible with those cases associated with Sturge–Weber angiomatosis.[6] In our case, there neither being any mental abnormality nor having any central nervous system abnormality at presentation. There was no visceral involvement observed although the hemangiomatous involvement of the gastrointestinal tract, visceral organs, and urinary system are not rare.[9]

Although the diagnosis is primarily clinical, confirmation requires laboratory and imaging studies, as in the present case. On Doppler evaluation, a slow-flow arteriovenous malformation was discovered and further confirmed on histopathology. The majority of patients with KTWS require nonoperative management which includes suitable footwear, graduated compression stockings, and garments. Epiphysiodesis is recommended only if the leg length discrepancy exceeds 2 cm in the growing child. Symptomatic varicose veins or localized arteriovenous malformations can be removed.[7] Surgical intervention is warranted for arteriovenous malformations and correction with the help of endovascular surgery as the hemodynamic alterations would give rise to cardiac failure.

  Conclusion Top

Our case highlights the fact that the distinction between KTWS and KTS may sometimes be difficult. Although the lesions are detectable by Doppler imaging even before they are audible with a stethoscope, histopathology confirmation is important. Therefore, good judgment before surgery and precise diagnosis with the help of imaging studies and histopathology is required.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: Current management. Phlebology 2007;22:291-8.  Back to cited text no. 1
Klippel M, Trenaunay P, Variquex DN. Osteohypertrophies. Arch Gen Med 1900;3:641-72.  Back to cited text no. 2
Weber FP. Angioma – Formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 1907;19:231.  Back to cited text no. 3
Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 2004;427:640-5.  Back to cited text no. 4
Zea MI, Hanif M, Habib M, Ansari A. Klippel-Trenaunay syndrome: A case report with brief review of literature. J Dermatol Case Rep 2009;3:56-9.  Back to cited text no. 5
Fakir E, Roberts T, Stephen L, Beighton P. Klippel-Trenaunay-Weber syndrome: Orodental manifestations and management considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009;107:754-8.  Back to cited text no. 6
Silva M, Melo M, Villalobos M, Cardoso C, Valerio C, Manzi F. Klippel-Trenaunay-Weber Syndrome: A clinical case report. Pediatr Dent J 2018;28:7-12.  Back to cited text no. 7
Lagravère MO, Barriga MI, Valdizán C, Saldarriaga A, Pardo JF, Flores M, et al. The Klippel-Feil syndrome: A case report. J Can Dent Assoc 2004;70:685-8.  Back to cited text no. 8
Inui M, Chiba R, Shike S. An autopsy case of Klippel-Trenaunay-Weber's disease. Acta Pathol Jpn 1969;19:251-63.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3]

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