Indian Journal of Dentistry 2012 OctobereDecemberVolume 3, Number 4; pp. 232e237 Case Report

Klippel Trenaunay syndrome: An illustrative report of a rare case

S.M. Ravi Prakasha,*, Sankalp Vermab

aProfe*CorreU.P., IReceiv� 201http://d

ABSTRACT

Klippel Trenaunay syndrome is a triad of congenital anomalies characterized by nevus flammeus, varicosities, andunilateral bony and soft tissue hypertrophy. This syndrome was first reported in 1900 by Klippel and Trenaunay.Orofacial manifestations include facial asymmetry, jaw enlargement, and malocclusions as well as premature tootheruption. Some authors have reported lesions resembling pyogenic granulomas to be a consistent feature of KTS.Presented here is an illustrative report of Klippel Trenaunay syndrome in an 18 year old female patient showing all thecharacteristic findings. Interestingly, increased appearance of nutrient canals in the affected maxillary quadrant isseen in our case which seems to be reported for the first time in the literature.

Keywords: Klippel Trenaunay syndrome, Nevus flammeus, Nutrient canals, Venous varicosities, Facialhemihypertrophy

INTRODUCTION

Klippel Trenaunay syndrome (KTS) is defined by the pres-ence of a combined vascular malformation of the capillaries,veins, and lymphatics; congenital venous abnormalities; andlimb hypertrophy. It is characterized by a triad of port-winestains; varicose veins; and bony and soft tissue hypertrophyinvolving an extremity.1,2 This is a rare sporadic conditionand there are no available figures for its annual incidenceor prevalence in the population.1

The skin lesion has a characteristic ‘port-wine stain’appearance, being deep-purple in color, with clear demarca-tion from normal skin. Abnormal veins and marked varicos-ities may be present. Lymphedema may complicate thecondition and contribute to the limb enlargement.1

In orofacial region, patient with this condition maypresent with hemangioma (nevus flammeus), early tootheruption, gingival hyperplasia, hypertrophy of the softtissues such as enlarged lip, cheek and tongue, jawbonehypertrophy causing asymmetry, malocclusion and anterior

ssor, bSenior Lecturer, Department of Oral Medicine and Radiology, Ksponding author. c/o Dr. R.P. Singh M.S., Dhanwantri Nursing Homendia. Tel.: þ91 9997119919, þ91 (0)591 2452995, email: sasan_raved: 4.4.2012; Accepted: 16.7.20122 Indian Journal of Dentistry. All rights reserved.x.doi.org/10.1016/j.ijd.2012.07.009

open bite. In addition, hemangioma of oral mucosa limitedto the affected side has been noticed.2,3

CASE REPORT

An 18 year old female reported to our department withchief complaint of facial discoloration on the left side sincebirth along with abnormally large lower lip since past fewyears. No significant medical, dental, personal or familyhistory was present.

On general examination, all the vital signs of the patientwere normal. Port wine stains were present on the left palm,left forearms and left lower leg (calf region). Circumferenceof left forearm on the affected side was increased by 10% incomparison to other side due to soft tissue hypertrophy(Fig. 2). Varicose veins were present on left upper and lowerextremities which became prominent on gravity (Figs. 2 & 3).

Facial examination revealed asymmetry with port winestains on the left side of the face involving the left

othiwal Dental College and Research Centre, Moradabad, India., Moh. Sarai Khalsa, Behind Head Post Office, Moradabad 244001,i@rediffmail.com

Fig. 1 Facial asymmetry with port wine stains on the left sideof the face involving the left mandibular region and lower liphypertrophy.

Fig. 2 Increase in the circumference of forearm along withpresence of discoloration of the palm and varicosities on theaffected side.

Fig. 3 Varicosities in the left lower extremity which becameprominent with gravity.

Klippel Trenaunay syndrome Case Report 233

mandibular region, complete lower lip and extending uptothe right corner of the mouth (Fig. 1). Lower lip was abnor-mally enlarged and was soft and compressible.

Intraorally, the port wine stain was showing character-istic ipsilateral distribution affecting left buccal mucosa,soft palate (Fig. 4) and lower labial mucosa as the whole.Left side of tongue was abnormally enlarged without anypalpable masses with a midline fissure over the dorsalsurface (Fig. 5). Gingival hypertrophy was present on theaffected side with moderately deep periodontal pockets.Increased height of the alveolar ridges and marked increasein the depth of the buccal vestibule were appreciated in theleft quadrants (Fig. 6). Hard tissue examination revealedproclination of upper and lower incisor teeth along withspacing due to arch length and tooth size discrepancy.There was downward and buccal placement of left maxil-lary teeth resulting in canting of occlusion (Fig. 6). GradeI mobility was noticed in lower anterior teeth.

On radiographic examination, orthopantomogramshowed left maxillary hypertrophy and downward place-ment of upper left posterior teeth (Fig. 7). Three dimen-sional reconstruction of CT confirmed the hypertrophy of

Fig. 4 Characteristic ipsilateral distribution of port wine stainson the left buccal mucosa and soft palate in comparison withthe normal side.

234 Indian Journal of Dentistry 2012 OctobereDecember; Vol. 3, No. 4 Ravi Prakash and Verma

maxilla on affected side (Fig. 9). Intraoral periapical radio-graphs of maxillary premolars and molars revealed moreprominent nutrient canals arranged both parallel andperpendicular to the cortex (Fig. 8).

Fig. 5 Abnormally enlarged left side of tongue with a midlinefissure.

A diagnostic search for a clinical condition presentingwith a triad of port-wine stain, varicose veins, and bonyand soft tissue hypertrophy confirmed the case as KlippelTranaunay syndrome.

DISCUSSION

Isolated reports of cases of limb hypertrophy were pub-lished in the 19th century, but the combination of a congen-ital vascular nevus of an extremity, venous varices on theaffected side, and limb hypertrophy was not recognizedas a consistent and unique syndrome until a 1900 articleby Klippel and Trenaunay.2,3 A few years later, FrederickParkes Weber published a report of similar patients inwhom both arteries and veins were enlarged and not justvenous abnormalities were present. Patients with limbhypertrophy, cutaneous capillary malformations, andvenous and arterial malformations sometimes receive a diag-nosis of KlippeleTrenaunayeWeber syndrome. Most casesare sporadic, although a few cases in the literature report anautosomal dominant pattern of inheritance.1

The exact cause of KlippeleTrenaunayeWebersyndrome (KTWS) remains to be elucidated, althoughseveral theories exist. Bliznak and Staple suggested intra-uterine damage to the sympathetic ganglia or intermediolat-eral tract leading to dilated microscopic arteriovenousanastomoses as the cause. Servelle believes that deep veinabnormalities, with resultant obstruction of venous flow,lead to venous hypertension, the development of varices,and limb hypertrophy. Baskerville et al contend that a meso-dermal defect during fetal development causes maintenanceof microscopic arteriovenous communications. Finally,McGrory and Amadio believe that an underlying mixedmesodermal and ectodermal dysplasia is likely responsiblefor the development of KTWS.1,3e5

A defect in an angiogenic factor, VG5Q has recentlybeen proposed. One patient has been reported with a trans-location of 5q and 11p, which raises the possibility thatKTS is due to a single mutation at one of the sites.4 Apredominant mode of inheritance has been suggested byone author because of frequent hemangiomas in familymembers of patients with KTS.1

KTS is a rare sporadic condition with no racial orgeographic predisposition. Males and females are affectedequally, and no racial predominance exists. Most patientsdemonstrate all 3 signs of the clinical syndrome: port-wine stain, varicose veins, and bony and soft tissuehypertrophies.1e3

The cutaneous vascular malformation is apparent atbirth. KTS generally affects a single extremity, althoughcases of multiple affected limbs have been reported. The

Fig. 6 Stone cast model of the patient showing left maxillaryhypertrophy and canting.

Fig. 8 IOPA radiograph of left maxillary premolars and molarswith more prominent nutrient canals.

Klippel Trenaunay syndrome Case Report 235

leg is the most common site followed by the arms, thetrunk, and rarely the head and the neck.1

The capillary hemangioma or port-wine stain usuallypresents first having a distinct, linear border that respectsthe midline. It is often noted on face or lateral aspect ofthe limb having variable depths limited to the skin orextends deeper to subcutaneous tissue, including muscleand bone. It is typically of the nevus flammeus type, butcavernous hemangiomas or lymphangiomas may alsooccur. Nevus flammeus is a salmon pink patch, sometimeswith a verrucous quality, which evolves to a deep purplecolor with time.1e3

Visceral organs, such as the pleura, the spleen, the liver,the bladder, and the colon may also be affected. Visceral

Fig. 7 OPG of the patient showing left maxillary hypertrophy.

organ involvement portends greater morbidity secondaryto internal hemorrhage that may manifest as hematuria orhematochezia. If large enough, cutaneous hemangiomasmay sequester platelets, leading to possible Kasa-bacheMerritt syndrome, a type of consumptive coagulop-athy. The hemangioma often overlies the vascularmalformation.1,3

Varicose veins in KTS are congenital. The KlippeleTre-naunay vein is a large, lateral, superficial vein sometimesseen at birth. This vein begins in the foot or the lower legand travels proximally until it enters the thigh or the glutealarea. Varicosities may be extensive, though they often sparethe saphenous distribution. These may affect the superficial,deep, and perforating venous systems. These varicositiesare rarely found in the orofacial region as gravity seemsto facilitate the venous drainage from the head and the

Fig. 9 Three dimensional reconstruction of CT confirming thehypertrophy of maxilla on affected side.

236 Indian Journal of Dentistry 2012 OctobereDecember; Vol. 3, No. 4 Ravi Prakash and Verma

neck region when compared with lower extremities.1,2,6

This explains the absence of venous varicosity in the oralregion in our case but was seen in upper and lowerextremities.

Bony and soft tissue hypertrophies are the third sign ofKTS. Limb hypertrophy can be secondary to increasedlength (bony involvement) and/or increased girth (softtissue involvement). It may be appreciated at birth andusually progresses during the first years of life. A greaterdegree of hypertrophy may be seen in patients with coexist-ing arteriovenous malformation. Although lymphedema isalso seen in patients, true hypertrophy of the affected softtissues is present.1,2 In our case circumference of forearmwas increased by 10% on the affected side along with pres-ence of discoloration of the palms although the underlyingbone did not show any change. This shows that thisincrease in size may be due to true soft tissue hypertrophy.

Other features include lymphatic obstruction, spina bifida,hypospadias, polydactyly, syndactyly, oligodactyly, hyper-hidrosis, hypertrichosis, paresthesia, decalcification ofinvolved bones, chronic venous insufficiency, stasis derma-titis, poor wound healing, ulceration, thrombosis, andemboli. There has also been a reported case of portosystemicencephalopathy and a cerebral haemangiopericytoma.1,4

Orofacial findings correspond to the bony and soft tissuehypertrophy of the upper and lower jaw resulting in facialasymmetry and malocclusion. Typical features includehemangiomas of the lips, tongue and oral mucosa alongwith premature eruption and accelerated growth of teethon the affected side.2,3 In our case, the hemihypertrophyof the left side of the maxilla was clinically visible. Maloc-clusion in our patient corresponds to anterior proclinationalong with spacing between the teeth due to arch length-tooth size discrepancies. Other intraoral findings in ourcase were hemangiomatous discoloration of the left buccalmucosa and soft palate and lower labial mucosa as thewhole. The tongue was abnormally enlarged on the leftside with a midline fissure.

Few case reports have also shown the presence of local-ized exophytic pedunculated growths arising from thegingiva resembling pyogenic granuloma both clinicallyand histologically in association with Klippel Trenaunaysyndrome.2,6 Such finding was not seen in our case.

Angiodysplasia of Klippel Trenaunay type is character-ized by a more disproportional unilateral enlargement ofthe bones. Nutrient canals can get enlarged because ofunilateral venous malformations (Ectasia, displacement,absence of valves, tortuous veins, cutaneous hemangi-omas.)7 Similar enlargement of the nutrient canals wereapparent in the affected maxillary quadrant radiographs inour case (Fig. 8). This finding is less documented in theliterature.

Differential diagnosis of this syndrome includes Par-keseWeber syndrome (where there is a high-flow arterio-venous malformation rather than capillary hemangioma),SturgeeWeber syndrome (facial port-wine stain, epilepsyand hemiparesis), Maffuci syndrome (rare dysembryoplasiacausing cartilage and vessel tumors), Proteus syndrome(rare hamartomatous disorder causing asymmetrical hyper-trophy of a range of tissues’).1,3

Evaluation of the deep venous system can be completedwith duplex scanning contrast venography, ultrasonog-raphy, contrast venography and arteriography, and nuclearMRI studies. Arteriography is especially helpful in thediagnosis of an arteriovenous fistula. MRI is also helpfulin imaging the soft tissue hypertrophy. In addition,magnetic resonance angiography can be very helpful inidentifying and defining vascular malformations. Prenataldiagnosis by ultrasonography has been reported. Orthopan-tomograms and lateral cephalograms show the jaw andocclusal abnormalities.1,2,4,5

Most patients with KTS can be treated conservativelywith compression stockings or pneumatic pumps whichdecrease edema, act as a barrier for minor trauma, andreduce venous insufficiency. Medications that can beprescribed are antiplatelet agents like aspirin and corticoste-roids. Surgical interventions which have been successfullytried are resection or ligation of abnormal blood vesselsand intravenous sclerotherapy.1,4,8.

Complications of hemangiomas include skin breakdownand ulceration, bleeding, and secondary infection. Compli-cations due to varicosities include paresthesia, stasis ulcers,pulmonary emboli, thrombophlebitis, stasis dermatitis,hemorrhage, and cellulitis. Hypertrophy of a limb maylead to subsequent vertebral scoliosis, gait abnormalities,and compromise of function.1,4

Life expectancy is largely normal, depending on theseverity of the malformation and thus the likelihood ofcomplications. About 10% of patients are affected bypulmonary embolism. There may be significant morbidityassociated with the condition but most patients do wellwith conservative therapy and lead relatively normal lives.Amputation is rarely needed.1

CONCLUSION

Oral findings in Klippel Trenaunay syndrome are commonand thus physicians and dentists must be vigilant and awareof the potential complications of dental or surgical proce-dures. The major problems associated with dental manage-ment of patients with this syndrome are excessivehaemmorrhage from any oral hemangiomatotic lesions anddelayed healing of surgical wounds. Some authors have

Klippel Trenaunay syndrome Case Report 237

reported lesions resembling pyogenic granulomas to bea consistent feature of KTS which was unremarkable in ourcase. Interestingly, maxillary radiographs in the affectedquadrants showed increased appearance of nutrient canals.

CONFLICTS OF INTEREST

All authors have none to declare.

REFERENCES

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2. Bhati Renuka J, Agarwal Nitin, Burde Krishna N. Klippel Tre-naunay syndrome: report of 3 cases. Oral Surg Oral Med OralPathol Oral Radiol Endod. 2002;93:276e280.

3. Mueller-Lessmann Viola, Behrendt Annekathrin, Wetzel WilliEckhard, Peterson Kertsen, Anders Dietrich. Oral findings in

the Klippel Trenaunay syndrome. Int J Pediatr Dentistry.2001;11:225e229.

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5. Defraia Efisio, Baccetti Tiziano, Marinelli Andrea,Tollaro Isabella. Biometric and magnetic resonance imagingassessment of dentofacial abnormalities in a case of KlippelTrenaunay Weber syndrome. Oral Surg Oral Med Oral PatholOral Radiol Endod. 2004;97:127e132.

6. Sebastian RJM, Ralf KW, Kreft Andreas, d’hoeft Bernt. EpulisGranulomatosa as an oral manifestation of Klippel Trenaunaysyndrome. J Oral Pathol Med. 2006;35:576e578.

7. Freyschmidt J. Kochler-Zimmer borderlands of normal andearly pathological findings in skeletal radiography. In: Intro-duction to Radiological Evaluation of Normal Variants. 5threvised ed., vol. 34. Thieme; 2001.

8. Meirer Romed, Georg M, Shafhigi Maziar. Sciatic nerveenlargement in the Klippel Trenaunay Weber syndrome. Br JPlast Surg. 2005;58:565e568.