Rare Diseases Symptoms Automatic Extraction

Potential pitfalls in volume reduction for the treatment of Proteus syndrome.

[proteus syndrome]

Proteus syndrome is a rare congenital hamartomatous condition that is characterised by a wide range of malformations. Skin and skeletal developmental malformations are common and may manifest as significant physical anomalies. However, few reports have discussed surgical treatment. A 37-year-old woman presented with disproportionate enlargement of the right buttock, which required volume reduction. The overgrown tissue was combined with vascular malformations, which in our patient were extremely thick. The patient experienced massive blood loss during the procedure, due to which a blood transfusion was performed. Pathological findings revealed partial lipohyperplasia with venous malformations. Thus, during operations including incomplete excision, massive bleeding is always a possibility, but is not commonly described in these instances.

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  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
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  • hydrocephalus with stenosis of the aqueduct of sylvius
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  • neonatal adrenoleukodystrophy
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  • pendred syndrome
  • phenylketonuria
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  • proteus syndrome
  • pyruvate dehydrogenase deficiency
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  • systemic capillary leak syndrome
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