Proteus syndrome in 7 patients: clinical and genetic considerations

Genet Couns. 1991;2(2):93-101.

Abstract

The Proteus syndrome is a congenital hamartomatous disorder delineated in 1983. Because of its polymorphic appearance, the syndrome was named after the greek god Proteus whose name means much less than the polymorphous much greater than. Major clinical findings include hemi hypertrophy, macrodactyly, exostoses, scoliosis, epidermal nevi, haemangiomas, deeply rugated soles of the feet and a variety of deep and subcutaneous masses. We report on 7 new cases of Proteus syndrome. All reported cases have been sporadic. Therefore this syndrome could be due to the action of a dominant lethal gene surviving by mosaicism.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Eye Diseases / diagnosis
  • Eye Diseases / genetics
  • Female
  • Genes, Lethal
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mosaicism
  • Musculoskeletal Diseases / diagnosis
  • Musculoskeletal Diseases / genetics
  • Proteus Syndrome / diagnosis*
  • Proteus Syndrome / genetics
  • Skin Diseases / diagnosis
  • Skin Diseases / genetics