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Year : 2005  |  Volume : 15  |  Issue : 3  |  Page : 349-352
Macrodystrophia lipomatosa - a rare congenital disorder


Department of Radio-diagnosis, Bangalore Medical College, Bangalore, India

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Keywords: Macrodystrophia Lipomatosa, Gigantism

How to cite this article:
Balakrishna B V, Prasad S. Macrodystrophia lipomatosa - a rare congenital disorder. Indian J Radiol Imaging 2005;15:349-52

How to cite this URL:
Balakrishna B V, Prasad S. Macrodystrophia lipomatosa - a rare congenital disorder. Indian J Radiol Imaging [serial online] 2005 [cited 2020 May 31];15:349-52. Available from: http://www.ijri.org/text.asp?2005/15/3/349/29153

   Introduction Top


The term 'Macrodystrophia Lipomatosa' describes a rare congenital condition in which there is localized gigantism of a digit or extremities accompanied by an overgrowth of the associated mesenchymal elements, particularly fat.

Here we wish to report two completely worked up case of Macrodystrophia Lipomatosa which were diagnosed with plain radiograph and Ultrasound/Doppler findings with a review of the natural history and was confirmed Histopathologically and Peroperatively.


   Case report Top


Case 1

A sixteen year old boy was referred to our department from department of Plastic surgery with a history of massive painless swelling[gigantism] of right lower limb and localised soft tissue swelling over right lumbar and upper dorsal region since birth.

Local examination revealed soft, nontender, non-pulsatile swelling[gigantism] of the whole of right lower limb mainly over anterior, medial and posterior aspects. True macrodactyly of medial three digits with cerebriform over growth of plantar tissue of right foot noted. There was no pigmented naevi or dilated veins soft tissue mass measuring 8x8cms noted over right paraumbilical and upper dorsal region[Figure - 1].

Then patient was subjected for skeletal survey.

Right foot radiogram revealed hypertrophied phalanges and metatarsals of first, second and third digits with soft tissue enlargement overlying it. Widening of first and second web spaces noted[Figure - 2].

Right lower thigh with knee joint radiogram revealed soft tissue enlargement with normal underlying bones[Figure - 3].

Pelvis with both hip joint radiogram Pelvis with both hip joints radiogram revealed destructive changes of acetabulum and superior migration of head of femur with soft tissue enlargement overlying it[Figure - 4].

Dorso-Lumbar spine radiogram revealed soft tissue mass over right upper dorsal and right paraumbilical region.

There was no evidence of osteolytic/osteosclerotic areas, periosteal reaction or abnormal calcifications in above mentioned radiograms.

Gray scale U/S and Doppler study showed large amount of subcutaneous fat. No evidence of abnormal calcifications or dilated venous channels noted. Solid abdominal organs were normal[Figure - 5].

Considering the radiological features a provisional diagnosis of Macrodystrophia Lipomatosa was given. Histopathology report was given as adipose tissue.

Later patient was operated where large amount subcutaneous fat and hypertrophied metatarsals and phalanges as mentioned above were seen. About 0-12 kgs of subcutaneous fat were removed [Figure - 6].

Hypertrophied phalanges were amputed[Figure - 7].

Post operative state of the limb was as shown in [Figure - 8]

Case 2

A four years old boy presented with massive painless swelling of medial two digits of right foot since birth. On local examination there was soft, nontender, non-pulsatile swelling[gigantism] of first and second digit of right foot . No evidence of pigmentation or dilated veins .

Then patient was subject for skeletal survey.

Right foot radiogram showed hypertrophied metatarsals, phalanges of first and second digits with soft tissue enlargement overlying it and widening of first web space[Figure - 9].

Other bones and joints were normal.

Gray scale and Doppler study showed large amount of subcutaneous tissue. No evidence of calcifications or dilated venous channels noted. Solid abdominal organs were normal.

Considering the radiological features a provisional diagnosis of Macrodystrophia Lipomatosa was made. Histopathology report was given as adiopose tissue. Per operative findings confirmed the diagnosis[Figure - 10].


   Discussion Top


Macrodystrophia Lipomatosa is an unusual entity and is considered to be a rare congenital condition and is classified with other Phakomatosis, such as Tuberus sclerosis and Neurofibromatosis. [1]

Exact etiology is not known. However there are many hypothesis suggesting that it is due to fibrofatty tumors impinging on nerves supplying the enlarged digit or due to alteration of somatic cells during limb bud development. It is now believed to be a part of generalized hamartomatous disorder known as proteus syndrome.[2]

Major clinical features are gigantism of a digit, hands/feet or whole extremity since birth. The characteristic feature of this condition is the anatomical location of the abnormality corresponding closely with the zone of innervation by sclerotome. Most commonly hands and feet are involved which may extend proximally to involve the proximal part of the limb. Associated features are conventional lipomas over other parts of body(seen in our case 1) and numerous bony excrescences resembling small osteochondroma or osteophytes. In long standing cases there may be degenerative changes in adjacent joints(seen in our case 1).[1],[2],[3]

Radiologists play a very important role in diagnosing this condition using different imaging modalities like Plain Radiogram, Ultrasonography[US], Magnetic Resonance Imaging[MRI] or Computed Tomographic[CT]evaluation of affected parts and by demonstrating the above mentioned features. Radiological findings can also be used to confidently differentiate this condition from other simulating conditions. This differentiation is of practical importance as the above mentioned conditions differ in their course, prognosis, complications and treatment. Differential diagnosis includes Proteus syndrome, Klippel-Trenaunay- Weber syndrome More Details, Beckwath-Wiedemann syndrome, Neurofibromatosis and Maffucci's syndrome.


   Acknowledgement Top


We are thankful to staff of department of Plastic surgery for their help in providing post-operative images.[4]

 
   References Top

1.Murray RO, Jackobson HG, Stoker DJ. The radiology of skeletal disorders:exercises in diagnosis 3rd edition. New York: Churchill Livingstone, 1990:1384  Back to cited text no. 1    
2.Broadwater BK, Major NM, Goldner RD, LayField. Macrodystrophia Lipomatosa with associated fibrolipomatous hamartoma of the median nerve. Pediatric surgery 2000;16:216-85  Back to cited text no. 2    
3.Boren WL, Henry RE Jr, Wintch K. MR diagnosis of Fibrolipomatous hamartoma of nerve: association with nerve territory oriented macrodactyl[macrodystrophia lipomatosa]. Skeletal radiology 1995;24:296-7  Back to cited text no. 3  [PUBMED]  
4.Goldman AB, Kaye JJ. Macrodystrophia Lipomatosa: Radiographic diagnosis. AJR 1977;128:101-5  Back to cited text no. 4  [PUBMED]  

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Correspondence Address:
B V Balakrishna
Department of Radio-diagnosis, Bangalore Medical College, Bangalore
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.29153

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    Figures

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

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    Introduction
    Case report
    Discussion
    Acknowledgement
    References
    Article Figures

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