Rare Diseases Symptoms Automatic Extraction

Macrodystrophia lipomatosa involving multiple nerves.

[proteus syndrome]

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.

Diseases presenting "lipomatous tumors are components of proteus syndrome" symptom

  • proteus syndrome

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