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Year : 2022  |  Volume : 23  |  Issue : 1  |  Page : 58-60

Klippel-trenaunay syndrome with congenital heart disease and bony abnormalities: A rare case report

1 Department of Skin and VD, Jhalawar Medical College, Jhalawar, Rajasthan, India
2 Department of Skin and VD, Dr. SN. Medical College, Jodhpur, Rajasthan, India
3 Department of Skin and VD, Government Medical College, Kota, Rajasthan, India

Date of Submission27-Nov-2020
Date of Acceptance12-Oct-2021
Date of Web Publication31-Dec-2021

Correspondence Address:
Akshay Kumar Jain
Department of Skin and VD, Government Medical College, Kota, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.ijpd_169_20

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Although Klippel-Trenaunay syndrome (KTS) is an infrequently seen dermatological disorder with plethora of associations. It is largely a clinical diagnosis made by the presence of at least two of the three classic findings. We are reporting a 16-year-old male child who presented to us with the limb hypertrophy, portwine stains, congenital heart disease, and bony abnormality. Multiple associations of KTS make it an interesting case.

Keywords: Bony abnormality, congenital heart diseases, Klippel-Trenaunay syndrome, limb hypertrophy, portwine stains

How to cite this article:
Agarwal S, Saini S, Jain AK. Klippel-trenaunay syndrome with congenital heart disease and bony abnormalities: A rare case report. Indian J Paediatr Dermatol 2022;23:58-60

How to cite this URL:
Agarwal S, Saini S, Jain AK. Klippel-trenaunay syndrome with congenital heart disease and bony abnormalities: A rare case report. Indian J Paediatr Dermatol [serial online] 2022 [cited 2022 Jan 16];23:58-60. Available from: https://www.ijpd.in/text.asp?2022/23/1/58/334671

  Introduction Top

Klippel-Trenaunay syndrome (KTS) is also known as Angio-osteodystrophy and Nevus varicosus osteohypertrophicus syndrome. It was first described in 1900 by two French physicians Klippel and Treynaunay, in two patients who presented with the capillary malformation, varicosities and hypertrophy of soft tissue and bones in their lower limb.[1] It is a rare disorder with slow venous lymphatic malformation with an incidence of 1/10,000. The condition is largely sporadic with rare paradominant transmission.[2] Unfortunately, there is no definitive cure, treatment is largely supportive.[3]

  Case Report Top

A 16-year-old boy presented in our outpatient department with a history of progressive enlargement of left upper and lower limb along with two well demarcated, erythematous to purplish, macular areas of unequal sizes with geographical borders consistent with the diagnosis of port-wine stain. Large one was approximately 12 cm × 5 cm in size and smaller one was being of size 6 cm × 5 cm. Both lesions were blanchable and were located over extensor aspects of left upper forearm and arm, respectively, since birth. On inspection, it was associated with disproportionate limb dimensions with left upper and lower limb showing overgrowth as compared to right limbs leading to asymmetry and difficulty in walking. The patient had dyspnea on exertion. On general physical examination, there was associated finding such as short neck and pectus excavatum [Figure 1]. Systemic examination revealed decreased chest expansion; auscultatory findings included flow murmur at pulmonary area at second right intercostal space. The patient was subjected to a battery of investigations. Routine laboratory profiles including complete blood count, renal function test, liver function test, and urine examination were within normal limits. Upper limb computed tomography (CT) angiography showed unilateral left upper limb hypertrophy as evidenced by bone elongation, circumferential soft-tissue hypertrophy and increased subcutaneous fat along with associated venous dilatation involving superficial and deep venous system. There was no associated AVM/Venous shunt [Figure 2]. Noncontrast CT cervical spine revealed fusion of body of C1–C2 vertebrae along with the fusion of post elements of C2–C3 vertebrae. There was spina bifida involving C2–T2 vertebrae and mild scoliosis in cervical spine with the presence of B/L cervical ribs. Two dimensional echocardiography of heart revealed dilated RV/RA, severe pulmonary arterial hypertension, moderate ostium secundum atrial septal defect [Figure 3]. Thus, this patient had port-wine stains over his left upper extremity, left upper and lower limb hypertrophy, fulfilling two criteria out of three for the diagnosis of KTS. Our case is worth reporting as being atypical because it lacks the classic triad of KTS along with associated congenital heart disorder, pectus carinatum, spina bifida, cervical scoliosis, and b/l cervical vertebral fusion.
Figure 1: Left limb hypertrophy giving asymmetric appearance of the upper limbs and two well-defined port wine stains extending on the left arm and forearm. Short neck and pectus excavatum are also seen

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Figure 2: Upper limb computed tomography angiography showed showed unilateral left upper limb hypertrophy as evidenced by bone elongation, circumferential soft tissue hypertrophy and increased subcutaneous fat along with associated venous dilatation involving superficial and deep venous system. There was no associated AVM/Venous shunt

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Figure 3: Two-dimensional echo-Right atrium and Right ventricle are dilated, severe pulmonary hypertension (PASP = 125 mmHg), dilated coronary sinus, moderate secundum (15 mm), confluent pulmonary arteries are grossly dilated

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  Discussion Top

KTS is a rare congenital vascular disorder with molecular pathogenesis of increased angiogenesis. It can be sporadic or due to mutation in Vascular Gene on Chromosome 5 Q (VGQ5)/AGGF1,[4] RASA1 mutation,[5] or it could be due to balanced translocations t (5;11)(q13.3;p15.1), t (8;14)(q22.3;q13), and a de novo supernumerary ring chromosome 18.[6] VGQ5 is the first angiogenic factor gene identified by a human genetic approach. The processes of vessel formation and vascular morphogenesis are precisely regulated, and disruption of these processes or developmental errors affecting them leads to a heterogeneous group of vascular anomalies, including KTS. Vascular anomalies are classified as vascular tumors and vascular malformations. Vascular malformations can be subcategorized according to the channel type and rheology as either slow-flow or fast flow. They can be single-channel (arterial, venous, capillary, or lymphatic) or combined channel (arteriovenous, capillary-lymphatic, capillary–venous, capillary–lymphatic, capillary-lymphatic-venous, or lymphatic venous malformations). The combined malformations are often associated with bony and soft tissue overgrowth (hypertrophy). KTS is an extensive combined malformation comprising capillary, lymphatic, and venous malformations associated with overgrowth of the affected extremity.

Clinical variants of KTS are; A-Simple KTS-(1) Blotchy/segmental port wine stain, (2) Venous malformations and hypertrophy; B-Complex KTS-(1) Geographic port wine stain, (2) Venous malformation and hypertrophy, (3) Higher risk of lymphatic involvement, (4) Increased risk of malformation. Other associated features reported include dry, scaly skin, congenital dislocation of hip or shoulders, spina bifida, and scoliosis, among others.[7]

Differential diagnoses of KTS are-(1) Parkes– Weber syndrome More Details, (2) Proteus syndrome, (3) Maffucci syndrome. Treatment options are mainly supportive; (a) Port–wine stain-pulse dye LASER can be used for cosmesis;[8] (b) Venous malformations-surgery; (c) Asymmetric limb length – osteotomy, epiphysiodesis, epiphyseal stapling; (d) Compression garments-to prevent/treat chronic venous insufficiency, lymphedema, recurrence.

The constellation of findings in this as a case of KTS and rarity of this case lies in the fact that in our case, there are associated findings as congenital heart disease and bony abnormalities.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient and his father have given their consent for his images and other clinical information to be reported in the journal. The patient and his father understand that his name 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

Klippel M, Treynaunay P. Du naevus variquex osteohypoertropiques. Arch Gen Med 1900;3:641-72.  Back to cited text no. 1
Hofer T, Frank J, Itin PH. Klippel-Trenaunay syndrome in a monozygotic male twin: Supportive evidence for the concept of paradominant inheritance. Eur J Dermatol 2005;15:341-3.  Back to cited text no. 2
Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: Part I. Clinical diagnosis. J Am Acad Dermatol 2011;65:893-906.  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
Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003;73:1240-9.  Back to cited text no. 5
Timur AA, Sadgephour A, Graf M, Schwartz S, Libby ED, Driscoll DJ, et al. Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. Ann Hum Genet 2004;68:353-61.  Back to cited text no. 6
You CK, Rees J, Gillis DA, Steeves J. Klippel-Trenaunay syndrome: A review. Can J Surg 1983;26:399-403.  Back to cited text no. 7
Baskerville PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trenaunay syndrome. Ann Surg 1985;202:624-7.  Back to cited text no. 8


  [Figure 1], [Figure 2], [Figure 3]


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