Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations

Am J Med Genet. 1992 Jul 1;43(4):662-8. doi: 10.1002/ajmg.1320430403.

Abstract

We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. We found that Proteus syndrome and ECCL have distinct identities even though some clinical manifestations are shared by both and a few patients have manifestations of both conditions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Bone Neoplasms / classification
  • Bone Neoplasms / complications
  • Bone Neoplasms / diagnosis*
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant, Newborn
  • Lipomatosis / classification
  • Lipomatosis / complications
  • Lipomatosis / diagnosis*
  • Male
  • Proteus Syndrome / chemically induced
  • Proteus Syndrome / classification
  • Proteus Syndrome / diagnosis*
  • Skin Neoplasms / classification
  • Skin Neoplasms / complications
  • Skin Neoplasms / diagnosis*