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KLIPPEL -TRENAUNAY WEBER SYNDROME

Anupam Mishra1, G. K. Shukla2, N. Bhatia3, D. Gupta4

INTRODUCTION
The various hemangiomatous syndromes in otolaryngology
include (1) Klippel Trenaunay -Weber syndrome (2)
Maffucci syndrome, (3) Sturge Weber syndrome, (4)
Tuberous sclerosis, (5) Epidermal nervus syndrome, (6)
Beckwith Wiedmann syndrome, (7) C-syndrome, (8) Hemi
hyper plasia, (9) Mulibrey nanism, (10) Pallister Hall
syndrome, (11) Proteus syndrome, (12) Trisomy - 13syndrome, (13) Bannaynan-Riley-Ruvalcaba syndrome.
Klippel Trenaunay Weber syndrome occurs mostly
sporadically and over 1000 cases have been reported till
date. The present case was an adult male who attended
the Department of Otolaryngology, G. M. and associated
Hospital, Lucknow, India.
CLINICAL PRESENTATION
This patient a 35 years old male was admitted in the
Department of ENT at G. M. and Associated Hospital,
Lucknow with the chief complains of change in voice
from 4 months along with the sensation of fullness in
throat. He took treatment by some local doctor who could
not pinpoint the disease and instead put him on
symptomatic treatment. About 1 & l/2months later he
started having pain in the throat along with difficulty in
swallowing. This throat pain was mild to moderate in
intensity throughout the day but further increased in
intensity during swallowing. Moreover there was no
history of oral bleeding.
On gereral examination the patient was essentially normal
except left sided jugulodigastric lymphadenopathy which
was non tender but freely mobile. The stystemic
examination did not reveal any organomegaly or other
abnormality. The s k in e x am in a t io n revealed a hemangiomatous lesion on the right forearm, which was
about 2 x 3 cm. in size, irregular, soft & nontender. The

oropharyngeal examination revealed a bulge on left side


of soft palate and left lateral pharyngeal wall. There was
no evidence of any bleeding point, ulcer or slough. It was
tender to pressure and nontransil-luminant. Moreover there
was no corresponding obvious swelling on the external
aspect of the neck. There was no other findings in rest of
the otolaryngological profile.
The routine investigations did not reveal any abnormality
but the radiological examination (CT scan) showed soft
tissue mass in left side of parapharynx from the hard palate
above upto the hyoid bone below extending well into the
oro and laryngopharynx but presenting only a
corresponding little bulge externally.
A well planned excision of the mass was done
transcervically under general anesthesia. An incision was
given along the upper 2/3rds of anterior border of sternomastoid starting from the angle of the mandible.
Subsequently after removing the superficial structures the
mass was seen above the carotid bifurcation but well
away from it. A blunt dissection was performed whereby
the mass was separated from the surroundings and thus

Fig. I :

Soft tissue mass in left parapharynx.

Department of Ot or hi nol ar yngol ogy, K i n g George's M e d i c a l College & G .M.associated Hospital, Shah muna Road,
Lucknow 226 003

Klippel - Trenaunay Weber Syndrome

Fig. II : Soft tissue mass in left parapharynx extending into


oropharynx.

49

Fig. V : Histopathological examination of the forearm mass showing


capillary vascular formations. It is similarly showing
proliferating single endothelial layer of cells.

cervical mass showed early malignant changes.


The Post operative period was uneventful and a 2 years
followup did not reveal any recurrence. The immediate
postoperatiave phase (7 days after operations is depicted in
the photograph clearly showing the incisions used for
excision.
Fig. Il l : Soft tissue mass in left parapharynx extending well into
laryngopharynx.

Fig. IV: Histo pathol o gical e x a m i n a t i o n of parapharyngeal mass

s h o w i n g p r o l i f e r a t i n g s i n g l e la y e r of e n d o t hel ial
cells sig nifying capillary haemangioma.

excised. In addition the cystic mass on the forearm was


similarly removed and sent for histopathology. The gross
specimen showed smooth, cream coloured outer surface,
felt firm on cutting and cut surface showed variegated
appearance of white and dark brown vesicular regions.
The mass obtained from the forearm was more or less of
similar features except that it felt somewhat soft on cutting.
The histopathology of both the specimen was similar
showing angiomatoid malformation, in addition the

DISCUSSION

The classical Klippel Trenaunay -Weber syndrome is a


combination of cutaneous angiomatosis, varicose veins
and enlargement of soft tissue as described first by Klippel &
Trenaunay in 1900. Baskerville P. A. et al. (1985) divided this
syndrome into two types depending upon the arteriovenous communications which indicate a bad prognosis.
This case did not reveal any arteriovenous malformation
high cardiac output state and hence showed a good
prognosis during 2 yrs follow up. Inui M. et al (1969) and
Lamar L. M. et al (1965) showed no consistent
histopathological pattern of these vascular lesions although
venous abnormalities predominate the arterial ones.
Considering the variability of the vascular anomalies, this
syndrome remains a clinical diagram rather than a
pathologic one. The other anomalies like visceral
hemangiomas,
lymphangiomatous
anomalies,
macrodactyly syndrome, polydactyly and oligodactyly
were not seen in this case. In addition the usual involvement of
the malformation of deep veins of the inferior extremity
resulting in its elongation (Servelle M. 1985) were also not
encountered. Gottron H.A. et al (1966), Hall R. (1971) and
Lamar et al (1965) stressed upon the presence of mental
abnormality seen with the craniofacial vascular
involvement. This is in contrast to our observation where
the mental status was absolutely normal.

Indian Journal of Otolaryngology and Head and Neck Surgery Vol. 54 No. I, January - March 2002

50

Klippel - Trenaunay Weber Syndrome

Baskerville et al (1985) pointed out that 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. This may or may not result in increased
bone growth and histologic changes of intimal thickening,
elastoses and ectasia of superficial veins.

upper extremity as was by Buchance et al in 1969 and


Kuffer et al in 1968.
There was no such evidence suggesting bleeding
diasthesis which may sometimes be seen to be of kasabach Merritt variety as by Inceman et al. in 1969.
CONCLUSION

Lindenauer in 1965 and again in 1971 pointed out, the


unilateral leg hypertrophy as the most frequent finding.
This case did not reveal any such abnormality but showed
the involvement of the upper extremity and the neck. This
latter observation is in parallel with the study of Brooksaler
(1966) and Furukawa et al. (1970) who stated that the
upper extremities are sometimes involved as are the
abdomen, chest, neck and face. Inui M. et al (1969) has
also noted hyperpigmented spots which however cannot be
appreciated in this dark skinned subject.

The present syndrome is to be suspected clinically inspite


of the unusual presentation. The search to rule out other
related conditions. The neurofibromatoses presenting with
the skin hemangiomas as well should not be looked only
by the presence of cafe-au-lait spots especially in the
tanned Indian skin. Similarly late onset vascular lesions
with enchondromatosis would characterize Maffucci
syndrome and lipomatous involvement about Proteus
syndrome.
REFERENCES

Roengenographically Nellhaus G. et al. 1967 appreciated a


double contoured from line calcification which was totally
missing in the present scan.
Bonse G. (1951), Rademacher R. (1961) and Teller H.
(1952) point out the co-existence of this syndrome
alongwith Shurge-Weber angiomatosis. Moreover
Furukawa et al (1970) and Gottron (1966) considering
the two disorders as differing only in location of the
involvement. As stated by Baskerville (1985) the
persistence of embryonic vascular structures is compatible
with those cases associated with Sturge Weber
angiomatosis. In the present case there neither being any
mental abnormality nor having any central nervous system
abnormality either at presentation or during follow up goes
against the presence of a co-existing Sturge Weber's
syndrome. Our findings were mainly confined to the
oropharynx, although. Krontras (1974), Miescher G.
(1958), Sciubba et al (1977), Steiner et al (1987) &
Stellmach (1958) have described oral mainfestations which
may include angiomatous involvement of the lips, buccal
mucosa tongue, palate gingiva, ma x illa and dental
abnormalities. There was no visceral involvement observed
although the hemangiomatous involvement of
gastrointestinal tract (Ghahremani et al 1976 ;Kuffer et al
1968 ; Sheperd 1953), visceral organs (Inui et al 1969)
and urinary system (Geley et al 1973) are not rare.
Moreover no lipodystrophy was observed to involve the

1.

Baskerville P. A. et al (1985) : The etilogy of the Klippel


Trenaunay syndrome. Ann Surg. 202 :624-627.

2.

Bonse G. Rontgenbetunde ber emer phakomatose (Sturge Weeber


Kombinert nut Klippel-Trenaunay) Fortscher Roentgenstr 74 :
727-729, 1951.

3.

Brooksaler F. (1966) : The angioosteohypertrophy syndrome


Am J Dis Child 112 :161-164.

4.

Buchance J., Galanda V. (1969) : Polymalformacny Klippelov


Trenaunayov Weberov Syndroms Progressivnou Lipodystrofiou u
6-rocneho chlapca. Cs Pediatr 24 : 228-232.

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syndrome with nevus of Ota&Ito Arch Dermatolr. 102 : 640645.

6.

Ghahremani G. G. et al : Diffuse cavernous hemanigioma of


colon in the Klippel Trenaunay syndrome.

7. Geley L et al (1973): Isolierte Gliedmassen-monohypertrophic mit


lipomatosis dereselben Korperhalfte-ein neuees syndrom ?
Z Kindeerchir 12 : 101-110.
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Gottron H. A.Schnyder U. W.(1966) : Verenbung von


Hautkrankheiten
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335-337.
10. Inceman S., Tangun Y (1969) : Cronic defibrination syndrome
due to a giant hemangioma associated with microangiopathic
hemolytic anaemia Am J Med. 46 : 997-1002.
11. Inui M et al (1969) : An autopsy case, of Klippel Trenaunay
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12. Klippel M, Trenaunay P. (1900) : Du naevus variqueux osteohypertrophique. Arch Gen Med. 185 : 641-672.

Indian Journal of Otolaryngology and Head and Neck Surgery Vol. 54 No. I, January - March 2002