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Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity.

Introduction: We present one of the largest case series of Macrodystrophia lipomatosa, a rare congenital disorder of localized gigantism characterized by overgrowth of all the mesenchymal elements, predominantly involving the fibroadipose tissue.

Aims: To detail the radiological features, pattern of distribution, associated conditions and to suggest an appropriate terminology to describe the condition.

Methods and Material: It is a retrospective study. Data from PACS server dating from 2000 and 2018 was used. The cases with isolated enlarged limb or digit/digits with or without nerve involvement were included in the study.

Statistical Analysis Used: Frequency and percentage were used for analysis of categorical variables.

Results: A total of 31 cases was included for the final analysis, out of which 19 were males and 12 were females. Unilateral limb involvement was seen in 30 cases. The most common pattern identified was the 'nerve territory oriented' type in 28 cases confined to the hand or foot, 'diffuse or pure lipomatous' type in one case and mixed type was seen in two cases. The most common nerve territory involved was along the median nerve in the upper limb and along the medial plantar nerve in the lower limb. Neural involvement was seen in 16 cases of the upper limb and 10 cases of the lower limb. Syndactyly was seen in two cases, polydactyly in one case and symphalangism in one case.

Conclusions: A diagnosis of macrodystrophia lipomatosa can be confidently made in cases with congenital isolated limb or digit/digits enlargement with or without fibrolipohamartoma of nerve. Radiographs and ultrasound are sufficient along with clinical examination to make accurate diagnosis. MRI is useful for assessing the extent and for planning surgery.

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