Article

You have free access to this content

Proteus syndrome: An update

  1. M. Michael Cohen Jr†,*

Article first published online: 11 JUL 2005

DOI: 10.1002/ajmg.c.30063

Issue

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Special Issue: Overgrowth Syndrome: An Update

Volume 137C, Issue 1, pages 38–52, 15 August 2005

Additional Information

How to Cite

Cohen, M. M. (2005), Proteus syndrome: An update. Am. J. Med. Genet., 137C: 38–52. doi: 10.1002/ajmg.c.30063

Author Information

  1. †

    Dr. M. Michael Cohen Jr is Professor Emeritus of Pediatrics at Dalhousie University in Halifax, Nova Scotia, Canada and Associate Editor of the American Journal of Medical Genetics. His interests include clinical genetics, pathology, and health care in developing countries. His research interests include bone disorders, overgrowth syndromes, and central nervous system anomalies. He is the author or co-author of more than 350 articles in the medical and scientific literature, author, co-author, or editor of 14 books, and author or co-author of more than 40 book chapters.

*Dalhousie University, 5981 University Ave., Halifax, Nova Scotia B3H 3J5, Canada.

Publication History

  1. Issue published online: 20 JUL 2005
  2. Article first published online: 11 JUL 2005

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (617K)

REFERENCES

  • Al-Mefty O, Fox JL, Sakati N, Bashir R, Probst F. 1987. The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. Child Nerv Syst 3: 132–134.
  • Barker K, Martinez A, Wang R, Murday V, Shipley J, Houlston R, Harper J. 2001. PTEN mutations are uncommon Proteus syndrome. J Med Genet 38: 480–481.
  • Biesecker LG. 2000. Pulmonary embolism. Proteus Syndrome Foundation Newsletter 7(7): 7.
  • Biesecker LG. 2001. The multifaceted challenges of Proteus syndrome. JAMA 285: 2240–2243.
  • Biesecker LG. 2005. Proteus syndrome. In: CassidySB, AllansonJE, editors. Management of genetic syndromes, Chapter 36, 2nd edn. New York: Wiley-Liss. pp 437–444.
  • Biesecker LG, Peters KF, Darling TN, Choyke P, Hill S, Schimke N, Cunningham M, Meltzer P, Cohen MM Jr. 1998. Clinical differentiation between Proteus syndrome and hemihyperplasia: Description of a distinct form of hemihyperplasia. Am J Med Genet 79: 311–318.
    Direct Link:
  • Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. 1999. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 84: 389–395.
    Direct Link:
  • Biesecker LG, Rosenberg MJ, Vocha S, Turner JT, Cohen MM Jr. 2001. PTEN mutations and Proteus syndrome. Lancet 358: 2079–2080.
  • Cardoso MTO, Buntede Carvalho T, Casulari LA, Ferrari I. 2003. Proteus syndrome and somatic mosaicism of the chromosome 16. Panminerva Med 45: 267–271.
  • Cekmen N, Kordan AZ, Tuncer B, Gungor I, Akcabay M. 2004. Case report. Anesthesia for Proteus syndrome. Pediatr Anesthesia 14: 689–692.
    Direct Link:
  • Cohen MM Jr. 1986. The Elephant Man did not have neurofibromatosis. Proc Greenwood Genet Ctr 6: 187–192.
  • Cohen MM Jr. 1988a. Invited historical comment: Further diagnostic thoughts about the Elephant Man. Am J Med Genet 29: 777–782.
    Direct Link:
  • Cohen MM Jr. 1988b. Understanding Proteus syndrome, unmasking the Elephant Man, and stemming elephant fever. Neurofibromatosis 1: 260–280.
  • Cohen MM Jr. 1993. Proteus syndrome: Clinical evidence for somatic mosaicism and selective review. Am J Med Genet 47: 645–652.
    Direct Link:
  • Cohen MM Jr. 1995. Putting a foot in one's mouth or putting a foot down: Nonspecificity vs. specificity of the connective tissue nevus in Proteus syndrome. Proc Greenwood Genet Ctr 14: 11–13.
  • Cohen MM Jr. 2000. Klippel–Trenaunay syndrome. Am J Med Genet 93: 171–175.
    Direct Link:
  • Cohen MM Jr. 2001. Causes of premature death in Proteus syndrome. Am J Med Genet 101: 1–3.
    Direct Link:
  • Cohen MM Jr. 2002a. Proteus syndrome. In: CohenMMJr, NeriG, WeksbergR, editors. Overgrowth syndromes, Chapter 9. New York: Oxford University Press. pp 75–110.
  • Cohen MM Jr. 2002b. Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations. Am J Med Genet 108: 265–274.
    Direct Link:
  • Cohen MM Jr, Cole DEC. 1989. Origin of recognizable syndromes: Etiologic and pathogenetic mechanisms and the process of syndrome delineation. J Pediatr 115: 161–164.
  • Cohen MM Jr, Hayden PW. 1979. A newly recognized hamartomatous syndrome. Birth Defects 15(5B): 291–296.
  • Cohen MM Jr, Howell RE. 1999. Etiology of fibrous dysplasia and McCune–Albright syndrome. Int J Oral Maxillofac Surg 28: 366–371.
  • Cohen MM Jr, Turner JT, Biesecker LG. 2003. Proteus syndrome: Misdiagnosis with PTEN mutations. Am J Med Genet 122A: 323–324.
    Direct Link:
  • Cohen MM Jr, Turner JT, Biesecker LG. 2004. Reply to Kirk et al. Am J Med Genet 130A: 216–217.
    Direct Link:
  • Eng C. 2003. Constipation, polyps, or cancer? Let PTEN predict your future. Am J Med Genet 122A: 313–322.
    Direct Link:
  • Eng C, Thiele H, Zhou XP, Gorlin RJ, Hennekam RC, Winter RM. 2001. PTEN mutations and Proteus syndrome. Lancet 358: 2079–2080.
  • Gordon PL, Wilroy RS, Lasater OE, Cohen MM Jr. 1995. Neoplasms in Proteus syndrome. Am J Med Genet 57: 74–78.
    Direct Link:
  • Happle R. 1987. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16: 899–906.
  • Happle R. 1995. Lipomatosis and partial lipohypoplasia in Proteus syndrome: A clinical clue to twin spotting? Am J Med Genet 56: 332–333.
    Direct Link:
  • Hoeger PH, Martinez A, Maerker J, Harper JI. 2004. Vascular anomalies in Proteus syndrome. Clin Exp Dermatol 27: 222–230.
    Direct Link:
  • Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. 2004. Radiologic manifestations of Proteus syndrome. RadioGraphics 24: 1051–1068.
  • Kirk EP, Smith JM, Field M, Marshall GM, Marsh DJ. 2004. Diagnosis of Proteus syndrome was correct. Am J Med Genet 130A: 214–215.
    Direct Link:
  • Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ. 1995. Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 32: 316–319.
  • McCall S, Ramzy MI, Cure JK, Pai GS. 1992. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations. Am J Med Genet 43: 662–668.
    Direct Link:
  • Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN. 2004. Cutaneous manifestations of Proteus syndrome. Arch Dermatol 140: 947–953.
  • Nowaczyk MJM, Mernaugh JR, Bourgeois JM, Thompson PJ, Jurriaans E. 2000. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet 91: 261–266.
    Direct Link:
  • Peters KF, Biesecker LG. 2000. An opportunity for genetic counseling intervention: Depression in parents of individuals with Proteus syndrome. J Genet Couns 9: 161–170.
  • Rizzo R, Pavone L, Micali G, Nigro F, Cohen MM Jr. 1993. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet 47: 653–655.
    Direct Link:
  • Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. 2001. Sudden death caused by pulmonary thromboembolism in Proteus syndrome. Clin Genet 58: 386–389.
    Direct Link:
  • Smith JM, Kirk EP, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ. 2002. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet 39: 937–940.
  • Thiffault I, Schwartz CE, Der Kaloustian V, Foulkes WD. 2004. Mutation analysis of the tumor suppressor PTEN and the Glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. Am J Med Genet 130A: 123–127.
    Direct Link:
  • Turner JT, Cohen MM Jr, Biesecker LG. 2004. A reassessment of the Proteus syndrome literature: Application of diagnostic criteria on published cases. Am J Med Genet 130A: 111–122.
    Direct Link:
  • Wiedemann H-R, Burgio GR. 1986. Letter to the editor: Encephalocraniocutaneous lipomatosis and Proteus syndrome. Am J Med Genet 25: 403–404.
    Direct Link:
  • Wiedemann H-R, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. 1983. The Proteus syndrome, partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly, skull anomalies, possible accelerated growth and visceral affections. Eur J Pediatr 140: 5–12.
  • Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. 2001. Association of germline mutations in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 358: 210–211.
View Full Article (HTML) Get PDF (617K)