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Year : 2001  |  Volume : 11  |  Issue : 3  |  Page : 139-141
Images : Macrodystrophia lipomatosa


DDU Hospital Hari Nagar, New Delhi, India

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Keywords: Macrodystrophia lipomatosa, gigantism

How to cite this article:
Dayal J, Tyagi A R, Jain P, Ranjan R, Sharma A. Images : Macrodystrophia lipomatosa. Indian J Radiol Imaging 2001;11:139-41

How to cite this URL:
Dayal J, Tyagi A R, Jain P, Ranjan R, Sharma A. Images : Macrodystrophia lipomatosa. Indian J Radiol Imaging [serial online] 2001 [cited 2018 Jul 18];11:139-41. Available from: http://www.ijri.org/text.asp?2001/11/3/139/28393
Macrodystrophia lipomatosa (ML) is a rare cause of focal gigantism. Hereby we present a typical case of ML with plain radiographic, US, CT and MR findings. Radiological findings help us in confidently differentiating this condition from other causes of focal gigantism such as neurofibromatosis and Klippel-Trenaunay- Weber syndrome More Details. This differentiation is of practical importance as the above mentioned conditions differ in their course, prognosis, complications and treatment.


   Case Report Top


A seven-years-old boy was referred to our department with a history of swelling and deformity of the right foot [Figure - 1]. In addition, there was a swelling over the right inguinal and knee regions. Detailed clinical history revealed that the swellings were present since birth and had gradually increased to their present size. No positive family history was found. On clinical examination the swelling over the right foot measured 14 x 10 cm and was soft in consistency and non-pulsatile. The swellings over the right knee and inguinal region measured 3x3 cm and 8x6 cm respectively and had characteristics similar to those of the swelling over the right foot. Skeletal survey of the child was performed. A radiograph of the right foot [Figure - 2] revealed diffused enlargement of the 1st, 2nd and 3rd metatarsals and respective proximal phalanges of the right foot both in length and transverse diameter, with surrounding soft tissue enlargement. There was widening of the first web space. Distal phalanges of the right foot were not seen properly. There was no evidence of any osteolytic or sclerotic lesion or periosteal reaction or any abnormal soft tissue calcification. Skeletal survey did not reveal any abnormality in any other bone

US (grey-scale and Doppler) of the affected foot revealed diffuse soft tissue thickening [Figure - 3]. No abnormal soft tissue calcification was seen. No vascular malformation or abnormal color flow was found in the affected region. CT was performed and showed findings similar to those on the radiographs with marked proliferation of fat [Figure - 4]. MR [Figure - 5] using spin-echo and gradient-echo pulses, was performed. T1W and T2W images of the affected foot were obtained which revealed, diffuse enlargement of the soft tissues, fibro-fatty nature with predominant fat density. Significant widening of the 1st web space due to soft tissue proliferation was seen. There was broadening of the 1st, 2nd and 3rd metatarsal heads. Tarsal bones were found to be closely approximated with loss of joint space. There was no evidence of nerve hypertrophy or soft tissue calcification. No evidence of hemangioma or lymphangioma was found. Based on the imaging findings, a diagnosis of ML was made. FNAC was performed from the affected foot. The tissue aspirated proved to be adipose in nature, thus confirming our diagnosis.


   Discussion Top


ML is a rare disorder characterized by deposition of fat in the soft tissues of one or more digits of the hand or foot which is associated with hypertrophy of the phalanges and affected limb. Numerous bony excrescences resembling small osteochondromas or osteophytes are also found in affected bones. [1]

Plain radiographs demonstrate the bony changes well. Soft tissue lucency due to fat deposition may or may not be seen because sometimes, soft tissue hypertrophy is due to the deposition of mixed fibro-fatty tissue [1],[2],[3]. CT and MR delineate the tissues involved and are virtually diagnostic, demonstrating predominantly the adipose component as well as the overgrowth of bones of the affected region. MR may also demonstrate the fibrolipomatous hamartoma of the nerve of the affected region in some cases. We did not find this in our patient [2],[4]. This unusual entity is considered to be congenital and classified with other phakomatoses such as tuberous sclerosis and neurofibromatosis. The distribution of these abnormalities corresponds closely to those of sclerotomes [1],[5].

Multiple conventional lipomas may be present in more proximal soft tissues in affected limbs; in our patient, lipomas were present at the knee and in the inguinal region of the affected limb [1]. This abnormality is now believed to be a part a of generalized hamartomatous disorder featuring deposition of fat in the soft tissues and even in the bowel - this entity is known as Proteus syndrome.

The cause of this condition is obscure; one hypothesis is that it may be related to fibro-fatty tumors impinging on nerves supplying the enlarged digits. Another hypothesis is that the condition may be caused by alteration of somatic cells during limb bud development. Radiological findings help to distinguish this condition from other causes of localized gigantism like neurofibromatosis and Klippel-Trenaunay-Weber syndrome. Differentiating between these conditions is important as they differ in their course, prognosis, complications and treatment.


   Acknowledgement Top


We are thankful to Dr. Sanjay Shrivastav for his help with the CT and MR imaging of this patient.

 
   References Top

1.Murray RO, Jackobson HG, Stoker DJ: The Radiology of skeletal disorders: exercises in diagnosis 3rd ed. New York: Churchill Livingstone, 1990: 1384  Back to cited text no. 1    
2.Hilder Brantt JW, Olson P, Paratainen H, Griggith HJ, Radiological case study Macrodystrophia Lipomatosa. Orthopedics 1993 September 16: 1075-7  Back to cited text no. 2    
3.Goldman AB, Kaye JJ. Macrodystrophia Lipomatosa: Radiographic diagnosis AJR Am J Roentgenol 1977; 128:101-5  Back to cited text no. 3    
4.Broadwater BK, Major NM, Goldner RD, LayField LJ. Macrodystrophia Lipomatosa with associated fibrolipomatous hamartoma of the median nerve. Pediatric Surg. Int. 2000; 16: 216-85.  Back to cited text no. 4    
5.Boren WL, Henry RE Jr, Wintch K. MR diagnosis of FibroLipomatous Hamartoma of nerve.: association with nerve territory- oriented Macrodactyly (Macrodystrophia Lipomatosa). Skeletal Radiol. 1995 May; 24: 296-7  Back to cited text no. 5    

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Correspondence Address:
A R Tyagi
DDU Hospital Hari Nagar, New Delhi
India
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Source of Support: None, Conflict of Interest: None


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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]



 

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