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 "congenital disorder" symptom

  • 22q11.2 deletion syndrome
  • coats disease
  • congenital adrenal hyperplasia
  • cystinuria
  • dentinogenesis imperfecta
  • holt-oram syndrome
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • oligodontia
  • pendred syndrome
  • proteus syndrome
  • wolf-hirschhorn syndrome

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