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Year : 2018  |  Volume : 19  |  Issue : 4  |  Page : 363-365

Klippel–Trenaunay syndrome affecting an uncommon site

1 Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
2 Department of Family Medicine, Aminu Kano Teaching Hospital, Kano, Nigeria

Date of Web Publication28-Sep-2018

Correspondence Address:
Dr. Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_92_17

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Klippel–Trenaunay syndrome (KTS) is characterized by the triad of varicosity of cutaneous veins, port wine stains, and soft tissue/bone overgrowth. It was first described by French physicians Klippel and Trenaunay in 1900. There is often overlap between KTS and Parkes Weber syndrome. The lower extremities are mostly affected and it is usually asymmetric; other sites involved are the upper limbs, trunk, and rarely, the head and face region. Therefore, the case of a 5-year-old girl who presented with KTS symmetrically involving the trunk and lower limbs is reported.

Keywords: Klippel–Trenaunay syndrome, Parkes Weber syndrome, port wine stain, soft-tissue overgrowth, varicose veins

How to cite this article:
Aliyu I, Michael GC. Klippel–Trenaunay syndrome affecting an uncommon site. Indian J Paediatr Dermatol 2018;19:363-5

How to cite this URL:
Aliyu I, Michael GC. Klippel–Trenaunay syndrome affecting an uncommon site. Indian J Paediatr Dermatol [serial online] 2018 [cited 2021 Jun 21];19:363-5. Available from: https://www.ijpd.in/text.asp?2018/19/4/363/223319

  Introduction Top

Klippel–Trenaunay syndrome (KTS) is an uncommon but extensively described syndrome characterized by the triad of varicosity of the cutaneous veins, port wine stains (capillary hemangioma), and bone/soft tissue overgrowth.[1] There are still confusion between KTS and Parkes  Weber syndrome More Details (PWS), but most authors believe it should be distinct from PWS [2] which in addition to the triad has arteriovenous (AV) malformation;[3] while others believe they are the same and should be called Klippel–Trenaunay–Weber syndrome.[4] It was first described by a French physicians Klippel and Trenaunay in 1900,[5] while in 1907, Parkes Weber further described a separate patient with AV malformation.[6],[7]

The cutaneous structures of the lower limb are mostly affected and usually asymmetric; other sites of involvement are the upper limb, rarely the trunk and head/neck region.[8],[9] Other organs may be affected such as the gastrointestinal tract, spleen, and central nervous system.[10] Therefore, the case of a 5-old-girl who presented with KTS symmetrically involving the trunk and lower limbs is reported.

  Case Report Top

A 5-year-old girl first seen at the age of 3 years with complaint of abdominal swelling which was noticed since early infancy; mother noticed that the swelling increased with the growth of the child. Both lower limbs were also swollen but the right was mostly affected. There was also reddish discoloration of the overlying skin which darkened as she grew older; dark nodular growths were noticed since at about the age of 1 year. These nodules occasionally ulcerate when scratched, but there was no history of significant bleeding. Mother noticed that the abdominal and right lower limb swelling increased with the growth of the girl [Figure 1]; resulting in the right leg been bigger than the left. The pregnancy and family history were not remarkable. Other systems were not remarkable. Her chest X-ray, electrocardiogram, and echocardiogram were essentially normal. Abdominal ultrasound of the truncal swelling showed a subcutaneous soft-tissue swelling while vascular lakes were shown from the Doppler studies [Figure 2]; her platelet count was low 60,000/mm 3 while other full blood count parameters were normal. Due to the extensive nature of the lesions especially the truncal lesions, debulking surgery was deemed risky of severe complications; however, compression garments were recommended for the limbs. She is currently been followed up in our clinic with significant reduction of the limb lesions.
Figure 1: Truncal swellings with limb hypertrophy

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Figure 2: Soft-tissue scan of the abdominal swelling showing vascular lakes

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  Discussion Top

KTS occurs worldwide with equal sex predilection; however, few cases have been reported from Nigeria [2],[11] and ours is the first from the northern part of the country. The exact cause is not known, most cases are sporadic; however, many theories have been put forward including those of a paradorminant pattern of inheritance, somatic mosaicism of a dominantly inherited lethal gene, defects of vasculogenesis, genetic mutations, and mesodermal defects [12],[13],[14],[15]

Thorough history and physical examination makes clinical diagnosis of KTS with limited need for imaging studies. Clinical presentation of KTS maybe typical or atypical; our patient had the typical form characterized by the presence of port wine stains. The presence of truncal involvement in the index case made it unique. KTS is usually not life threatening except for the cosmetic defect and possible loss of self-esteem associated with it. However, patients with associated cavernous hemangioma are at risk of platelet destruction resulting in bleeding (Kasabach–Merritt syndrome). Furthermore, gastrointestinal bleeding in those with mucosa involvement may present with iron deficiency; though our patient had a low platelet count, no episode of bleeding was reported. KTS-associated AV malformations may predispose to high output heart failure. Though detailed vascular studies (angiography) were not done in the patient, the absence of clinical evidence such as bounding pulses, bruits, and clinical heart failure made AV malformation unlikely in the index case. Other possible differential diagnoses such as Proteus and Clove syndromes also have overgrowth of body tissues but they lack port wine stains while Maffucci and Sturge–Weber syndromes have port wine stains but they lack overgrowth of body tissues.[2] Use of laser therapy for the port wine stain was not possible in the index case due to lack of such facility; however, due to the possible risk of significant bleeding and also the location of the truncal lesions made debulking surgery not an acceptable option in the index case. However, radiotherapy and endovascular laser therapy are other alternatives but these are not readily available in most resource-limited settings.

  Conclusion Top

KTS is uncommon; while the limbs are the most common site; the case of a 5-year-old girl who also had truncal involvement is reported.


Consent was obtained from the parents of the girl for the use of clinical data and pictures in this study.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that name and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Phillips GN, Gordon DH, Martin EC, Haller JO, Casarella W. The Klippel-Trenaunay syndrome: Clinical and radiological aspects. Radiology 1978;128:429-34.  Back to cited text no. 1
Ikpeme AA, Usang UE, Inyang AW, Ani N. Klippel trenaunay syndrome: A Case report in an adolescent Nigerian boy. Open Access Maced J Med Sci 2015;3:322-5.  Back to cited text no. 2
Aelvoet GE, Jorens PG, Roelen LM. Genetic aspects of the Klippel-Trenaunay syndrome. Br J Dermatol 1992;126:603-7.  Back to cited text no. 3
Klippel M, Du TP. Naevus variqueux osteohypertrophique. Arch Generates Med 1900;3:641-72.  Back to cited text no. 4
Kim HY, Chang YW, Lee DH. Rectal and Splenic Vascular Malformation in Klippel Trenaunay-Weber Syndrome: A Case Report. J Korean Soc Radiol 2012;67:289-92.  Back to cited text no. 5
Weber FP. Angioma formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 1907;19:231-5.  Back to cited text no. 6
Weber FP. Hemangiectatic hypertrophy of limbs – Congenital phlebar teriectans and so-called congenital varicose veins. Br J Child Dis 1918;25:13.  Back to cited text no. 7
Akcali C, Inaloz S, Kirtak N, Ozkur A, Inaloz S. A case of Klippel-Trenaunay syndrome involving only upper limbs. G Ital Dermatol Venereol 2008;143:267-9.  Back to cited text no. 8
Cha SH, Romeo MA, Neutze JA. Visceral manifestations of Klippel-Trénaunay syndrome. Radiographics 2005;25:1694-7.  Back to cited text no. 9
Kim HY, Chang YW, Lee DH. Rectal and splenic vascular malformation in Klippel-Trenauncy weber syndrome: A case report. J Korean Soc Radiol 2012;67:289-92.  Back to cited text no. 10
Voorhoeve HW. Two Nigerian children with the Klippel-Trenaunay syndrome. Trop Geogr Med 1969;21:305-10.  Back to cited text no. 11
Sharma D, Lamba S, Pandita A, Shastri S. Klippel-Trenuanay syndrome – A very rare and interesting syndrome. Clin Med Insights 2015;9:1-4.  Back to cited text no. 12
Dutt R, Dutt C. Klippel – Trenaunay – Weber syndrome. J Clin Neonatol 2012;1:160-1.  Back to cited text no. 13
[PUBMED]  [Full text]  
Papendieck CM, Barbosa ML, Pozo P, Braun D, Vannelli C. Klippel-Trenaunay-Servelle syndrome in pediatrics. Lymphat Res Biol 2003;1:81-4.  Back to cited text no. 14
Mendiratta V, Koranne RV, Sardana K. Klippel trenaunay Parkes-Weber syndrome. Indian J Dermatol Venereol Leprol 2004;70:119-22.  Back to cited text no. 15
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