Article

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

  1. Sherman McCall1,
  2. Magda I. Ramzy2,4,
  3. Joel K. Cure3,
  4. Dr. G. S. Pai1,*

Article first published online: 7 JUN 2005

DOI: 10.1002/ajmg.1320430403

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 43, Issue 4, pages 662–668, 1 July 1992

Additional Information

How to Cite

McCall, S., Ramzy, M. I., Cure, J. K. and Pai, G. S. (1992), Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations. Am. J. Med. Genet., 43: 662–668. doi: 10.1002/ajmg.1320430403

Author Information

  1. 1

    The Division of Genetics, Department of Pediatrics, Medical University of South Carolina, Charleston

  2. 2

    The Division of Craniofacial Genetics, Department of Pediatric Dentistry, Medical University of South Carolina, Charleston

  3. 3

    The Department of Radiology, Medical University of South Carolina, Charleston

  4. 4

    The Department of Human Genetics, National Research Center, Cairo, Egypt

*Director, Division of Genetics, Medical University of South Carolina, 171 Ashley Avenue, Charleston, S.C. 29425

Publication History

  1. Issue published online: 7 JUN 2005
  2. Article first published online: 7 JUN 2005
  3. Manuscript Revised: 4 OCT 1991
  4. Manuscript Received: 20 JUN 1991

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Keywords:

  • Proteus syndrome;
  • encephalocraniocutaneous lipomatosis;
  • mesoectodermal dysgenesis;
  • congenital lipomatosis;
  • organoid nevus syndrome;
  • neurocutaneous syndrome

Abstract

We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thikening), 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. © 1992 Wiley-Liss, Inc.

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