A child with enlarged extremities – A case of macrodystrophia lipomatosa

Abstract

Macrodystrophia lipomatosa (ML) is a rare, non-hereditary, developmental anomaly that occurs because of the progressive proliferation of all mesenchymal elements of single or multiple digits or entire extremity, with a disproportionate increase in fibroadipose tissue. Commonly one or few digits of an extremity will be enlarged and present as macrodactyly or as enlarged limb. Lower limb involvement is more common and frequently unilateral. The diagnosis of ML is made by accurate clinical assessment and imaging modalities, such as plain X-ray, computed tomography scan, magnetic resonance imaging, and confirmed by histopathological study. In this case, we described a 10-year-old child who was brought to us with enlarged upper and lower extremities and was diagnosed as a case of ML with the help of clinico-radiological studies and presented here because of focal gigantism involving all four limbs, which is very rare.

Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case

“…17 As summarized in our recent review of the world's literature (and updated for this review), we have identified 153 cases of MDL (i.e., reported using this term): 79 cases with documented LN and 74 cases that do not comment on nerve abnormality. 1,2,13,[18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] Overgrowth was most commonly reported with LN of the median nerve at the wrist, followed by plantar nerves. The cases that did not comment on nerve involvement, however, lacked of the site of the suspected lesion, yet alone imaging proximally to the lesion.…”