Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation
Leslie G. Biesecker
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Search for more papers by this authorRudolf Happle
Department of Dermatology, University of Marburg, Marburg, Germany
Search for more papers by this authorJohn B. Mulliken
Division of Plastic Surgery, Children's Hospital, Boston, Massachusetts
Search for more papers by this authorRosanna Weksberg
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Search for more papers by this authorJohn M. Graham Jr
Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SHARE's Child Disability Center, University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California
Search for more papers by this authorDenis L. Viljoen
Department of Human Genetics, Medical School, University of Cape Town, Cape Town, South Africa
Search for more papers by this authorCorresponding Author
M. Michael Cohen Jr
Departments of Oral and Maxillofacial Sciences, Pediatrics, Community Health and Epidemiology, Health Services Administration, Sociology and Social Anthropology, Dalhousie University, Halifax, Nova Scotia, Canada
Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5Search for more papers by this authorLeslie G. Biesecker
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Search for more papers by this authorRudolf Happle
Department of Dermatology, University of Marburg, Marburg, Germany
Search for more papers by this authorJohn B. Mulliken
Division of Plastic Surgery, Children's Hospital, Boston, Massachusetts
Search for more papers by this authorRosanna Weksberg
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Search for more papers by this authorJohn M. Graham Jr
Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SHARE's Child Disability Center, University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California
Search for more papers by this authorDenis L. Viljoen
Department of Human Genetics, Medical School, University of Cape Town, Cape Town, South Africa
Search for more papers by this authorCorresponding Author
M. Michael Cohen Jr
Departments of Oral and Maxillofacial Sciences, Pediatrics, Community Health and Epidemiology, Health Services Administration, Sociology and Social Anthropology, Dalhousie University, Halifax, Nova Scotia, Canada
Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5Search for more papers by this authorAbstract
Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. To clarify some of these issues, a workshop on Proteus syndrome was held in March 1998 at the National Institutes of Health, and participants developed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients. This is a review of those recommendations. Am. J. Med. Genet. 84:389–395, 1999. © 1999 Wiley-Liss, Inc.
References
-
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.
10.1002/(SICI)1096-8628(19981002)79:4<311::AID-AJMG14>3.0.CO;2-U CAS PubMed Web of Science® Google Scholar
- Botella-Estrada RB, Alegre V, Sanmartin O, Ros C, Adolfo A. 1991. Isolated plantar cerebriform collagenoma. Arch Dermatol 127: 1589–1590.
- Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M. 1987. Proteus syndrome: an expanded phenotype. Am J Med Genet 27: 99–117.
- Cohen MM Jr. 1986. The Elephant Man did not have neurofibromatosis. Proc Greenwood Genet Cent 6: 187–192.
- Cohen MM Jr. 1988a. Invited historical comment: further diagnostic thoughts about the Elephant Man. Am J Med Genet 29: 777–782.
- 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 mo-saicism and selective review. Am J Med Genet 47: 645–652.
- Cohen MM Jr. 1995. Putting a foot in one's mouth or putting a foot down: nonspecificity v. specificity of the connective tissue nevus in Proteus syndrome. Proc Greenwood Cent 14: 11–13.
- Cohen MM Jr. 1998a. Some neoplasms and some hamartomatous syndromes: genetic considerations. Int J Oral Maxillofac Surg 27: 363–369.
-
Cohen MM Jr.
1998b.
Perspectives on overgrowth syndromes.
Am J Med Genet
79:
234–237.
10.1002/(SICI)1096-8628(19981002)79:4<234::AID-AJMG2>3.0.CO;2-M PubMed Web of Science® Google Scholar
- Cohen MM Jr, Hayden PW. 1979. A newly recognized harmartomatous syndrome. In JJ O'Donnell, BD Hall, editors. Penetrance and variability in malformation syndromes. Birth Defects 15 (5B): 291–296.
- Goodship J, Redfearn A, Milligan D, Gardner-Medwin D, Burn J. 1991. Transmission of Proteus syndrome from father to son? J Med Genet 28: 781–785.
- Gordon PL, Wilroy RS, Lasater OE, Cohen MM Jr. 1995. Neoplasms in Proteus syndrome. Am J Med Genet 57: 74–78.
- Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. 1992. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 44: 307–314.
- 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. 1991. How many epidermal nevus syndromes exist? A clinico-genetic classification. J Am Acad Dermatol 25: 550–556.
- Happle R. 1992. Paradominant inheritance: a possible explanation for Becker's pigmented hairy nevus. Eur J Dermatol 2: 39–40.
- Happle R. 1993. Mosaicism in human skin: Understanding the patterns and mechanisms. Arch Dermatol 129: 1460–1470.
- Happle R. 1995. Letter to the editor: Lipomatosis and partial lipohypoplasia in Proteus syndrome: a clinical clue for twin spotting? Am J Med Genet 56: 332–333.
- Hotamisligil GS, Ertogan F. 1990. The Proteus syndrome: association with nephrogenic diabetes insipidus. Clin Genet 38: 139–144.
- Krüger G, Pelz L, Wiedemann H-R. 1993. Transmission of Proteus syndrome from mother to son? (letter). Am J Med Genet 45: 117–118.
- 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.
- Mayatepek E, Kurczynski TW, Ruppert ES, Hennessy JR, Brinker RA, French BN. 1989. Brief clinical report: expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings. Am J Med Genet 32: 402–406.
- Mulliken JB. 1993. Cutaneous vascular anomalies. Sem Vasc Surg 6: 204–218.
- Mulliken JB, Glowacki J. 1982. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg 69: 412–420.
- Nazzaro V, Cambiaghi S, Montagnani A, Brusasco A, Cerri A, Caputo R. 1991. Proteus syndrome: ultrastructural study of linear verrucous and depigmented nevi. J Am Acad Dermatol 25: 377–383.
- Newman B, Urbach AH, Orenstein D, Dickman PS. 1994. Proteus syndrome: Emphasis on the pulmonary manifestations. Pediatr Radiol 24: 189–193.
- 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.
- Rizzo R, Pavone L, Sorge G, Parano E, Baraitser M. 1990. Proteus syndrome: report of a case with severe brain impairment and fatal course. J Med Genet 27: 399–402.
- Schwartz CE, Brown AM, Der Kaloustian VM, McGill CC, Saul RA. 1991. DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the Proteus syndrome. In: T Burke, G Dolf, AJ Jeffreys, R Wolff, editors. DNA fingerprinting: approaches and applications. Basel, Switzerland: Birkhauser Verlag. p 95–105.
- Skovby F, Graham JM Jr, Sonne-Holm S, Cohen MM Jr. 1993. Compromise of the spinal canal in Proteus syndrome. Am J Med Genet 47: 656–659.
- Smeets E, Fryns J-P, Cohen MM Jr. 1994. Regional Proteus syndrome and somatic mosaicism. Am J Med Genet 51: 29–31.
- Uitto J. 1986. Biochemistry of collagen diseases. Ann Intern Med 105: 740–756.
- 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 and possible accelerated growth and visceral affections. Eur J Pediatr 140: 5–12.
- Wiedemann H-R, Burgio GR. 1986. Letter to the editor: Encephalocraniocutaneous lipomatosis and Proteus syndrome. Am J Med Genet 25: 403–404.
