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 Table of Contents  
Year : 2017  |  Volume : 3  |  Issue : 2  |  Page : 115-118

Limb reconstruction in lipofibromatosis

1 Department of Orthopaedics, Ilizarov Unit, Centro Ilizarov GB Mangioni Hospital, Lecco, Italy
2 Department of Orthopaedics, Centro Ilizarov GB Mangioni Hospital, Lecco, Italy

Date of Web Publication22-Aug-2017

Correspondence Address:
Gopalan Balachandar
Department of Orthopaedics, American Hospital, P.O. Box: 5566, Dubai, UAE

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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jllr.jllr_12_17

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A 6-month-old infant presented with a soft tissue tumor (lipofibromatosis) of the right leg and procurvatum deformity of mid-shafts of tibia and fibula. He underwent deformity correction with Ilizarov fixator. He later had multiple surgeries for limb length difference and angular deformities of the tibia for more than a decade. At 12 years of age, his limb was well aligned with good function. Appearance of the leg was satisfactory despite lack of any surgical interventions for the soft tissue tumor.

Keywords: Limb length discrepancy, limb reconstruction, lipofibromatosis, procurvatum deformity of tibia

How to cite this article:
Balachandar G, Catagni MA. Limb reconstruction in lipofibromatosis. J Limb Lengthen Reconstr 2017;3:115-8

How to cite this URL:
Balachandar G, Catagni MA. Limb reconstruction in lipofibromatosis. J Limb Lengthen Reconstr [serial online] 2017 [cited 2020 May 28];3:115-8. Available from: http://www.jlimblengthrecon.org/text.asp?2017/3/2/115/213561

  Introduction Top

Local gigantism of the limb may be evident at birth as in lipofibromatosis, Klippel-Trenaunay syndrome or appears later such as in neurofibromatosis, Ollier's disease and Proteus syndrome.[1] The combination of lipofibromatosis with a bony deformity has been reported only once.[2] We report a case of lipofibromatosis of the leg with angular deformity of tibia and fibula. The surgical treatment of the bony deformity over 12 years and spontaneous resolution of the tumor in a patient is presented.

  Case Report Top

A 6-month-old male infant was brought to the clinic with a swollen right leg [Figure 1]. On examination, there was a near-fusiform irregular enlargement of the right leg with a dimple on the anterolateral aspect of the leg. The hip, thigh, knee, ankle, foot, and toes were normal. The lower limb was neurovascularly intact. There were no other similar enlargements in the body. There were no skin lesions or discoloration seen. The upper limbs, spine and skull were normal. Radiograph [Figure 2] showed a procurvatum deformity of 90° of the midshaft of the tibia and deformed fibula along with enlarged soft tissues of the leg with similar radioopacity as that of the thigh. Magnetic resonance imaging (MRI) [Figure 3] showed an ill-defined lesion infiltrating subcutaneous and muscle planes with low-intensity multiple septae. It showed hyperintensity on T1 and T2 with focal peripheral enhancement. The MRI features were suggestive of fibro-fatty tumor. Biopsy revealed the presence of fibrous tissue.
Figure 1: Age 6 months, anteromedial aspect of the right leg with knee and ankle with foot

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Figure 2: Age 6 months, lateral radiograph of the leg showing 90° procurvatum at mid-shaft tibia and deformed fibula

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Figure 3: Age 6 months, magnetic resonance imaging sagittal short tau inversion recovery sequence image showing hypointense lobular masses separated by hyperintense septae

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At 14 months, treatment began with osteotomy at the apex of deformity and a two-ring fixator construct with 10 cm half-rings. Distraction began after a latency of 14 days at 0.75 mm/day. After 84 days, the fixator was removed. The foot was plantigrade, and the procurvatum was fully corrected.

At 2 years of age, the tibia developed a procurvatum of 19° with a valgus of 20°. The deformity was corrected gradually with a two-ring construct again [Figure 4].
Figure 4: Age 2 years, anteroposterior and lateral radiographs of the leg showing valgus-procurvatum deformity

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At 4 years of age, he had a distal tibial procurvatum with an anterior distal tibial angle (ADTA) of 96° with a longer limb (normal, 78°–82°), which was corrected with an anterior 8-plate [Figure 5]. The plate was removed after 5 months. At 5 years and 9 months, a three-ring construct with calcaneal fixation was used to correct tibia valga.
Figure 5: At 4 years, distal tibia procurvatum with anterior distal tibial angle of 96° was seen. Distal tibial hemiepiphysiodesis was done with 8-plate to correct procurvatum and limb length discrepancy

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At 8 years of age, he had genu recurvatum with increased posterior proximal tibial angle of 95° (normal, 77°–84°), distal tibia procurvatum with ADTA of 100° (normal, 78°–82°) with a 3 cm longer right leg [Figure 6]. A posteromedial hemiepiphysiodesis of the proximal tibia with 8-plate was done, and an acute correction of the distal tibia procurvatum maintained with circular fixator. At 8 years and 5 months, the limb lengths were equal with no deformities at the knee and ankle [Figure 7].
Figure 6: At 7 years and 9 months, distal tibia procurvatum recurred (anterior distal tibial angle –100°) with genu recurvatum (posterior proximal tibial angle –95°)

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Figure 7: At 8 years and 5 months, limb length equality and deformity correction achieved after treatment with posteromedial 8-plate at proximal tibia and ring construct at distal tibia

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At 9 years and 9 months, the right leg was longer by 2 cm, the medial proximal tibial angle was 70° (normal = 85°–90°) and mechanical lateral distal femoral angle was 80° (normal = 85°–90°) [Figure 8]. A lateral proximal tibial 8-plate and medial distal femoral 8-plate was inserted to correct the deformities.
Figure 8: At 9 years 9 months, the right leg was 2 cm longer. Proximal tibia vara (medial proximal tibial angle – 70°) and distal femur valgus (mechanical lateral distal femoral angle −80°) were seen

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At 12 years of age, the mechanical axis of the limb was normal while the right limb was longer by 2 cm compared to the left [Figure 9]. During treatment, it was noticed that the soft tissue enlargement of the right leg had slowly reduced in size over time without any surgical intervention. The final cosmetic and functional result were satisfactory [Figure 10].
Figure 9: Well-aligned right lower limb with lateral proximal tibia and medial distal femoral 8-plates in situ

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Figure 10: Resolution of the soft tissue tumor without intervention at 6 months, 17 months, 4, and 12 years (left to right)

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  Discussion Top

We suspect that the soft tissue lesion was lipofibromatosis and the recurrent bony deformities probably arose due to pressure effect.[2],[3] Lipofibromatosis is a rare pediatric soft tissue tumor consisting of adipose and fibroblastic elements. It is painless, benign, locally infiltrative tumor with a predilection for extremities. MRI shows iso/hyperintensity in T1 with iso/hyperintensity in T2 and hypointense on fat suppression images with minimal or no enhancement on contrast suggestive of fat tissue. It is interspersed with hypointense foci (fibrous tissue).

The differential diagnoses in this patient include fibromatosis, lymphatic malformation, lymphedema, venous malformation, neurofibromatosis, and Klippel–Trenaunay syndrome. Fibromatosis are locally aggressive lesions, more common in boys, seen in children <2 years with head, neck and upper limb involvement, hypointense on T1 and T2.[4] Lymphatic malformation have skin changes, hypointense on T1, hyperintense on T2 and do not enhance on contrast MRI.[5],[6] Lymphedema usually affects lower limbs, including the foot, uncommon in children, with skin changes such as nonpitting edema, epidermal breakdown, and infection.[5] MRI in lymphedema shows honeycomb appearance, thickened skin and sparing of muscle planes. Venous malformations have skin discoloration and vessel engorgement. MRI shows hypointensity on T1, hyperintensity on T2 and contrast enhancement.[6] Neurofibromatosis is associated with café-au-lait spots, axillary freckles, iris hamartomas, scoliosis and anterolateral bowing of tibia.[7] Klippel–Trenaunay syndrome is associated with capillary and cavernous hemangiomas, varicosities with bone or tissue hypertrophy.[7]

A large case series involving 45 patients with lipofibromatosis from 827 soft tissue tumors showed male preponderance with the hand being most commonly affected.[8] In their series, although foot, thigh and knee lesions were reported, the leg was not involved. Greene et al.[5] reported a diffuse lipofibromatosis of the lower extremity in a 4-month-old boy with flexion deformity of the knee treated with splinting and observation of the tumor. Joseph and Zenios[2] described lipofibromatosis of the leg with angular deformity of tibial midshaft with subsequent correction with Taylor Spatial Frame without addressing the tumor at 2 years of age. This is the only report of lipofibromatosis involving the leg with bony deformity.

Surgery for the lipofibromatosis is frought with local recurrence (about one in three recur)[8],[9] and observation has been recommended. Teo et al.[3] reported on a female neonate with lipofibromatosis of the upper limb where debulking of tumor led to a nonviable limb and above-elbow amputation. Risk factors for recurrence are congential onset, male gender, and incomplete excision.[2]

Our patient underwent multiple surgeries for deformity correction and limb length inequality from the second year of life till prepubertal age. There was no attempt to treat the soft tissue lesion. Although spontaneous regression is not reported in lipofibromatosis, the limb overgrowth is less prominent with good cosmetic and functional result. This is the first case report that records the longest period of limb reconstruction with multiple surgeries for bony deformity in lipofibromatosis.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Joseph B, Robb J, Loder RT, Torode I. Paediatric Orthopaedic Diagnosis: Asking the Right Questions. 1st ed. India: Springer; 2015. p. 359-66.  Back to cited text no. 1
Joseph G, Zenios M. Congenital bowing of the tibia due to infantile lipofibromatosis corrected with a Taylor Spatial Frame. Musculoskelet Surg 2014;98:247-50.  Back to cited text no. 2
Teo HE, Peh WC, Chan MY, Walford N. Infantile lipofibromatosis of the upper limb. Skeletal Radiol 2005;34:799-802.  Back to cited text no. 3
Laffan EE, Ngan BY, Navarro OM. Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: Part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain origin. Radiographics 2009;29:e36.  Back to cited text no. 4
Greene AK, Karnes J, Padua HM, Schmidt BA, Kasser JR, Labow BI, et al. Diffuse lipofibromatosis of the lower extremity masquerading as a vascular anomaly. Ann Plast Surg 2009;62:703-6.  Back to cited text no. 5
Navarro OM, Laffan EE, Ngan BY. Pediatric soft-tissue tumors and pseudo-tumors: MR imaging features with pathologic correlation: Part 1. Imaging approach, pseudotumors, vascular lesions, and adipocytic tumors. Radiographics 2009;29:887-906.  Back to cited text no. 6
Lacerda Lda S, Alves UD, Zanier JF, Machado DC, Camilo GB, Lopes AJ, et al. Differential diagnoses of overgrowth syndromes: The most important clinical and radiological disease manifestations. Radiol Res Pract 2014;2014:947451.  Back to cited text no. 7
Fetsch JF, Miettinen M, Laskin WB, Michal M, Enzinger FM. A clinicopathologic study of 45 pediatric soft tissue tumors with an admixture of adipose tissue and fibroblastic elements, and a proposal for classification as lipofibromatosis. Am J Surg Pathol 2000;24:1491-500.  Back to cited text no. 8
Boos MD, Chikwava KR, Dormans JP, Chauvin NA, Jen M. Lipofibromatosis: An institutional and literature review of an uncommon entity. Pediatr Dermatol 2014;31:298-304.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]


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