Cyto-Radiological Diagnosis of Macrodystrophia Lipomatosa: A Report of Rare Entity With Review of Literature
Journal Title: International Journal of Medical and Health Sciences - Year 2013, Vol 2, Issue 4
Abstract
Macrodystrophia lipomatosa (MDL) is rare congenital hamartomatous lesion causing localized or generalized gigantism of hand or foot. In the paediatric age group; MDL leads to a diagnostic dilemma with fibro-lipohamartoma, neurofibromatosis type 1 (plexiform neurofibroma), lymphangiomatosis, hemangiomatosis and Klippel-Trenaunay-Weber syndrome, Beckwith Wiedeman syndrome, Mafucci syndrome, Ollier disease and Proteus syndrome. A 2-year-old female child presented with a progressive disproportionate enlargement of the index and the middle finger of the right hand. Correlating the lesion’s clinical presentation and cytological findings a diagnosis of benign mesenchymal lesion of lipomatous origin with differentials of MDL and fibrolipomatous hamartoma (FLH) were suggested. MRI findings also concurred with the cytological diagnosis. Surgical debulking was done and a definitive diagnosis of MDL was given on histopathology. The present case is worth reporting as it describes a rare case and also highlights the importance of correlating clinical and radiological findings with cytology to reach an early diagnosis.
Authors and Affiliations
Rahul Mannan, Tejinder Singh Bhasin, Parampreet Kaur , Harjot Kaur, Kulwinder Singh
Keywords
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