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J Orthop Traumatol. 2012 Mar;13(1):41-5. doi: 10.1007/s10195-011-0159-6. Epub 2011 Sep 27.

Macrodystrophia lipomatosa involving multiple nerves.

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1
Department of Radiodiagnosis and Imaging, Postgraduate Institute of Medical Sciences, Pt. B.D. Sharma University of Health Sciences, Rohtak, 124001 Haryana, India.

Abstract

Macrodystrophia lipomatosa (MDL), a rare congenital disorder, is considered by some to be a localized form of Proteus syndrome. The implication of the PTEN (phosphatase and tensin homolog deleted on chromosome 10) gene in both strengthens this belief. We present a case who had MDL in multiple nerve territories--all on the same side of the body--with hypertrophy of mainly fibroadipose tissue throughout their distribution, thus pointing to a form of localized hemihypertrophy; both hemihypertrophy and lipomatous tumors are components of Proteus syndrome.

PMID:
21948052
PMCID:
PMC3284677
DOI:
10.1007/s10195-011-0159-6
[Indexed for MEDLINE]
Free PMC Article
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