CASE REPORT

Congenital bowing of the tibia due to infantile lipofibromatosiscorrected with a Taylor Spatial Frame

George Joseph • Michalis Zenios

Received: 27 June 2012 / Accepted: 30 November 2012

� Istituti Ortopedici Rizzoli 2012

Abstract Congenital lipofibromatosis is a rare slow

growing benign fibrofatty neoplasm presenting in child-

hood. The case of a boy presenting soon after birth with

diffuse lower extremity enlargement associated with a

significant tibial deformity is presented. Magnetic reso-

nance imaging and soft tissue biopsy confirmed the diag-

nosis of lipofibromatosis. The child started having

problems with his gait after the age of two. The tibial

bowing was corrected gradually using a Taylor Spatial

Frame resulting in a good clinical outcome.

Keywords Congenital lipofibromatosis �Taylor Spatial Frame

Introduction

Lipofibromatosis is a rare paediatric soft tissue neoplasm

with a distinctive tendency to contain fat and has been

fairly recently described by Fetsch et al. [1] as a distinct

clinical entity. Histologically, it is characterised by abun-

dant fatty tissue with fibroblastic elements. Although

completely benign, it has been reported to have a high rate

of local non-destructive recurrence [1].

A case of diffuse lipofibromatosis of the lower leg

associated with bony deformity presenting soon after birth

and eventually requiring surgical intervention is reported.

Case report

A 2-week-old baby presented with diffuse enlargement of

the right lower extremity below the knee associated with

bowing (Fig. 1). There was no history of perinatal trauma

and the baby was otherwise well. Clinical examination

revealed a diffuse swelling below the knee, soft in nature

with no definite margins. The X-rays showed a right mid-

shaft tibial deformity with a 70� anterior angulation

(Fig. 2). Magnetic resonance imaging (MRI) scans

(Figs. 3, 4) performed at the time confirmed the marked

anterior tibial bowing surrounded by an extensive soft

tissue mass comprising mainly of fatty tissue with internal

intermediate signal radiating bands in keeping with fibrous

tissue supporting the diagnosis of lipofibromatosis. The

infiltrating fatty lesion demonstrated high signal on

T1-weighted images (Fig. 3) and loss of signal with fat

suppression (Fig. 4). A pre-operative MR angiogram

showed no vascular anomalies. A biopsy was recommended

to confirm the diagnosis. This was performed under a general

anaesthetic, and histopathological examination showed

abundant mature adipose tissue with a fibrous spindle cell

component involving the septa of the adipose tissue. There

was no fibrous growth or any evidence of nuclear atypia, and

these findings were consistent with an overall appearance of

lipofibromatosis. The family was advised at the time that the

swelling was entirely benign and considering its extensive

nature it was decided not to proceed with complete surgical

resection at the time.

The child started walking at 2 years of age but parents

reported significant problems with his gait. The flexion

deformity of the tibia and the shortening of the limb

resulted in significant compensatory knee hyper-extension

with gait. Considering the magnitude of the deformity, it

was decided to gradually correct the deformity using a

G. Joseph � M. Zenios (&)

Department of Orthopaedics and Trauma,

Royal Manchester Children’s Hospital, Oxford Road,

Manchester M13 9WL, UK

e-mail: m_zenios@hotmail.com

123

Musculoskelet Surg

DOI 10.1007/s12306-012-0232-1

Taylor Spatial Frame (TSF) in order to reduce the risk of

neurovascular injury (Fig. 5). The TSF was fixed to the

tibia using three fine 1.8 mm tensioned wires above and

three 1.8 mm wires below the osteotomy. The osteotomy

was performed at the level of the deformity. Considering

the patient’s short tibia, the frame was extended to the foot

with the ankle in full dorsiflexion in order to improve the

stability of the frame. Gradual correction of the deformity

was achieved (Fig. 6), and the frame was removed once the

osteotomy has healed. The deformity was corrected in

37 days, and the TSF was removed 8 months following the

operation.

Two years following surgery, the leg was well aligned

and the patient’s gait was entirely satisfactory (Fig. 7).

Fig. 1 Clinical photograph showing diffuse swelling of the right

lower limb associated with a deformity

Fig. 2 Lateral X-rays showing a 70� anterior angulation deformity of

the right tibia

Fig. 3 Sagittal T1-weighted MR image showing a high signal

infiltrating fatty mass

Fig. 4 STIR MRI scan showing loss of signal of the mass with fat

suppression

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There was still obvious diffuse swelling in the distal part of

the leg not interfering with function. The option of com-

plete surgical resection was discussed the family after the

frame treatment but decided against because of the exten-

sive nature of the swelling. A small limited debulking

procedure is planned for the future if the swelling causes

any functional problems or problems with shoe wear.

Discussion

Since lipofibromatosis was first described as a separate

clinical entity by Fetsch et al. [1], an increasing number of

cases have been reported in the literature [2–8]. Lipofib-

romatosis is typically described to be between 2 and 5 cm

and is most commonly seen in the hands and feet and is

slightly less common in the thigh, trunk and head [4].

There have been no reports of either metastasis or spon-

taneous regression [2, 3] but there is a high rate of local

recurrence. Congenital onset, male gender, incomplete

excision and higher mitosis appear to be risk factors for

recurrence.

Isolated lipofibromatosis can be confused with lipoma,

liposarcoma, fibrous hamartoma, neurofibroma or lym-

phatic malformation. Diffuse involvement of the upper [3]

and lower extremity [5] has been described similar to our

patient, but it is very rare. Diffuse lipofibromatosis needs to

be distinguished from vascular malformations, lymphoe-

dema, lymphatic malformation and lipoedema, as descri-

bed by Greene et al. [5]. In contrast to lipofibromatosis [1]:

Venous or arteriovenous malformations are associated with

skin discolouration and vessel enlargement [2]. Lymphatic

malformations are associated with skin changes and do not

enhance with contrast on MRI [3]. Lymphedema does not

spare the foot or hand affecting the distal part of the limb

[4]. Lipedema does not usually present in childhood and is

associated with a positive family history.

On MR imaging, the detection of fat within this tumour

may be a valuable distinguishing feature between lipofib-

romatosis and the other soft tissue fibrous tumours that

occur in children [3]. In our case, the fatty elements clearly

demonstrating high signal on T1-weighted images and loss

Fig. 5 X-rays showing the osteotomy at the site of the deformity and

application of the Taylor Spatial Frame to correct the angulation

Fig. 6 Lateral tibial X-rays showing good correction of the deformity

at the end of treatment

Fig. 7 Clinical photographs showing better alignment of the limb

1 year following the procedure. There is still obvious diffuse swelling

in the distal part of the leg not interfering with function

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of signal with fat suppression helped in the differential

diagnosis of this lesion.

As clinical history and radiological investigations are

non-specific, a definitive diagnosis is usually by biopsy and

histological examination. Adipose tissue accounts for sig-

nificant portion (50 % or more) of the tumour [1, 3], with

spindle fibroblast-like cells involve the septa. Mitotic rate

is low and there is usually no cellular atypia [1, 4].

Bony deformity as a result of pressure from a mass

lesion due to the lipofibromatosis has been described [3] in

the upper limb, but surgical debulking in that patient had

resulted in a poor outcome as the limb became non-viable.

A slight anterior bowing of the tibia was also evident in the

case described by Greene et al. [5], but literature review

revealed no other cases of lipofibromatosis associated with

such a significant lower limb deformity as the one descri-

bed in our case.

Complete surgical resection is the mainstay of treatment

of localised lesions, because of high predilection for

recurrence in incompletely excised lesions [1, 4]. However,

in diffuse lesions, affecting the whole limb complete

excision is not possible and may even lead to problems [3].

There have also been reports of some cases with long-term

follow-up who experienced no recurrence even though the

lesion was incompletely excised [1, 3]. Though radical

excision of the tumour had been debated in our patient, due

to the high risk of neurovascular problems and that of

recurrence, only a debulking is planned if the tumour

begins to cause functional problems.

The use of the Taylor Spatial Frame was thought to be

the best approach as the angulation was severe, and a slow

correction was thought to be more appropriate to avoid

neurovascular problems. The timing for surgery was

planned for treating the problems of gait associated with

the deformity and also for better handling of the tissues.

In conclusion, a rare case of diffuse lipofibromatosis is

described associated with a significant tibial deformity

resulting in problems with gait. Correction using a TSF

avoiding radical resection resulted in a functional limb.

Considerable clinical judgement is important in the man-

agement of these patients considering the benign nature to

achieve a functional outcome.

Conflict of interest None.

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