MACRODYSTROPHIA LIPOMATOSA - A CASE REPORT
Karuna Thapar, Gaurav Dhawan, Sandeep Aggarwal, Naresh Jindal Department of Pediatrics, Government Medical College, Amritsar Address for Correspondence: Karuna Thapar, Hno. 9-A, Krishna Square, Near Shivala Mandir, Amritsar-143001. Email: firstname.lastname@example.org A one & half year old male child presented with gradually increasing size of second & third toe of right foot since birth. (Figure 1).There was no family history of hypertrophy of limbs; no history of pigmentation and seizures. On local examination swelling was soft, non tender, non pulsatile, non fluctuating with no change in color or rise in temperature, transillumination test was negative. General physical examination and systemic examination were within normal limits. He was evaluated by X-ray foot that revealed hypertrophy of soft tissues & bones (distal phalanges) of second & third digits. On ultrasonography there was hypertrophy of fibroadipose tissue of right second & third toe. The soft tissue distribution was typically more towards the distal end of the involved toes on the dorsal & volar aspects. There were no osteolytic or sclerotic lesions in the involved bones. Color Doppler showed no evidence of any increased flow in the above region to suggest any vascular malformation. MRI could not be performed due to cost factor. This clinical history, together with the radiographic & ultrasonographic findings suggested the diagnosis of Macrodystrophia lipomatosa.
Macrodystrophia lipomatosa (ML) is a rare cause of focal gigantism which was first described in 1925 by Feriz (1). It has also been called as partial acromegaly, macrosomy, elephantiasis, megalodactly, dactylomegaly, macrodactyly and limited gigantism. Although the certain etiology of the disease has not been known yet, lipomatous degeneration, fetal circulation abnormality, and damage of extremity bud in intrauterine life are some of the proposed hypothesis. It is now believed to be a part of generalized hamartomatous disorder known as Proteus syndrome (2). Deformity is realized just after delivery. This condition is found in both the upper and lower extremities. The condition may affect more than one finger; even it may involve the whole extremity. The most commonly involved parts are the second and third fingers of the upper or lower extremity. Bilateral involvement is very rare. Most cases involve the middle and index fingers, corresponding to the territory supplied by the branches of the median nerve (1, 3). The differential diagnosis includes neurofibromatosis, proteus syndrome Klippel-Trenaunay-Weber syndrome, lymphangiomatosis, hemangiomatosis, and fibrolipomatous hamartoma of the nerve. Imaging modalities like X-ray, Ultrasonography, Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) can be used to evaluate the affected parts. On conventional X-Ray images macrodactyly and soft tissue overgrowth are visible and are most marked along the volar aspect of the digit and at its distal end. This overgrowth can produce dorsal deviation of affected parts (4). Radiolucent areas within increased soft tissue shadows due to adipose tissue are occasionally seen (5). The phalanges are elongated, broad, and the distal ends are splayed and can have a "mushroom" shape (6). Slanting of the articular surfaces can occur and this leads to secondary degenerative joint disease, manifesting as subchondral cyst and osteophyte formation (7). The etiology of the development of the secondary degenerative change, which occurs in adults, is unclear. Excessive growth of the bone within the area innervated by nerve and fat tissue proliferation within muscle fibers are the characteristic findings detected by CT. MRI is also a useful imaging modality to aid diagnosis. Abnormal growth of the involved finger ceases in puberty. Surgical intervention is usually carried out due to cosmetic reasons but proper information about the nature of the disease should be given to the patient before performing surgical intervention.
The authors would like to thank Ms. Raj and Mr. Sanjay Gupta for their help in the preparation of this case report.
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Thapar K, Dhawan G, Aggarwal S, Jindal N. MACRODYSTROPHIA LIPOMATOSA - A CASE REPORT. Pediatric Oncall [serial online] 2007 [cited 2007 August 1];4. Art # 33. Available from: