Rare Diseases Symptoms Automatic Extraction

Management of craniofacial hyperostosis in Proteus syndrome.

[proteus syndrome]

Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, occasionally involving the head and the face. Skin and skeletal developmental malformations are common and may be manifested in significant physical anomalies. In this report, we describe the cases of 2 patients affected by this condition. For one patient, a recurrence occurred 4 years after the elimination of cranial hyperostosis. In the second patient, although we observed macrosomia and peculiar countenance in the context of craniofacial hyperostosis, the patient did not visit a clinic for approximately 50 years before seeking treatment. The management of the craniofacial involvement is described, and a literature overview is presented.

Diseases presenting "significant physical anomalies" symptom

  • proteus syndrome

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