Proteus Syndrome: case reports

ABSTRACT

Introduction:

Proteus syndrome is a complex and rare disorder classified as a hamartomatous disease. It was first described in two patients in 1979, by Cohen and Hayden. Proteus syndrome is difficult to diagnose, and is often confused with Klippel-Trenaunay-Weber syndrome, neurofibromatosis, or Sturge-Weber syndrome. In this study we describe two patients who were treated at the Plastic and Reconstructive Surgery Service of the Federal University of Paraná.

Method:

A 6-year-old male patient (case 1) presented to the Service with lipomatosis and asymmetry, as the primary findings. A 20-year-old (case

2) was admitted to the Service with a diagnosis of Klippel-Trenaunay-Weber syndrome, which later was shown to be Proteus syndrome.

Conclusion:

The etiological hypothesis that is most accepted for this disease is genetic. It is believed that somatic mosaicism may occur during pathogenesis, which can be lethal in the mosaic state. Premature death is common. However, the most common sequelae are the occurrence of unusual tumors. The care of patients with this syndrome is a challenge due to medical and psychosocial consequences.

Keywords:
Proteus syndrome; Hamartoma; Lipoma.