Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Proteus Syndrome

Proteus Syndrome Abstract • The term Proteus syndrome was coined in 1983 to describe a disorder of skeletal, hamartomatous, and other mesodermal malformations. The syndrome was named after the Greek god Proteus, whose name means "the Polymorphous." Clinical features of this new syndrome are currently being defined. Including the case reported herein, we have found 34 patients with Proteus syndrome described in the English literature. Major clinical findings, defined as those findings seen in more than half of the cases, include hemihypertrophy, macrodactyly, exostoses, epidermal nevi, characteristic cerebriform masses involving the plantar or palmar surfaces, a variety of subcutaneous masses, and scoliosis. Histologic examination of subcutaneous masses has identified a variety of lipomatous, hamartomatous, and angiomatous tumors. (Arch Dermatol. 1989;125:1109-1114) References 1. Wiedemann H-R, Burgio GR, Aldenhoff P. The Proteus syndrome . Eur J Pediatr. 1983;140:5-12.Crossref 2. Fay JT, Schow SR. A possible case of Maffucci's syndrome . J Oral Surg . 1968;26:739-744. 3. Kontras SB. Case Report 19 . Synd Ident . 1974;2:1-3. 4. Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome . In: Bergsma D, ed. DBOAS: Penetrance and Variability in Malformation Syndromes . New York, NY: Alan R Liss Inc; 1979;15:291-296. National Foundation—March of Dimes Series. 5. Horton WA. Klippel-Trenaunay syndrome . In: Bergsma D, ed. DBOAS: Skin, Hair and Nails . Baltimore, Md: Williams & Wilkins; 1971;7:316-318. National Foundation—March of Dimes Series. 6. Temtamy SA, Rogers JG. Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature . J Pediatr. 1976;89:924-927.Crossref 7. Pawlaczyk B, Sioda T. Hypertrophied lumbar and muscular atrophy . Synd Ident. 1976;4:4. 8. Cohen MM Jr. Invited historical comment: further diagnostic thoughts about the Elephant Man . Am J Med Genet. 1988;29:777-782.Crossref 9. Tibbles JAR, Cohen MM Jr. Proteus syndrome: the Elephant Man diagnosed . Br Med J. 1986;293:683-685.Crossref 10. Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M. Proteus syndrome: an expanding phenotype . Am J Med Genet. 1987; 27:99-117.Crossref 11. Mucke J, Willgerodt H, Kunzel R, Brock D. Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis . Eur J Pediatr. 1985;143:320-323.Crossref 12. Viljoen DL, Nelson MM, de Jong G, Beighton P. Proteus syndrome in South Africa: natural history and clinical manifestations in six individuals . Am J Med Genet. 1987;27:87-97.Crossref 13. Viljoen DL, Saxe N, Temple-Camp C. Cutaneous manifestations of the Proteus syndrome . Pediatr Dermatol . 1988;5:14-21.Crossref 14. Malamitsi-Puchner A, Kitsiou S, Bartsocas CS. Brief clinical report: severe Proteus syndrome in an 18-month-old boy . Am J Med Genet. 1987;27:119-125.Crossref 15. Fitch N, Azouz EM. Proteus syndrome: report of two cases with pelvic lipomatosis . Pediatrics . 1985;76:984-989. 16. Lezama DB, Buyse ML. The Proteus syndrome: the emergence of an entity . J Clin Dysmorphol. 1984;2:10-13. 17. Gorlin RJ. Proteus syndrome . J Clin Dysmorphol. 1984;2: 8-9. 18. Uitto J, Bauer EA, Santa Cruz DJ, Holtmann B, Eisen AZ. Decreased collagenase production by regional fibroblasts cultured from skin of a patient with connective tissue nevi of the collagen type . J Invest Dermatol. 1982;78:136-140.Crossref 19. Riccardi VM. Von Recklinghausen neurofibromatosis . N Engl J Med. 1981;305:1617-1626.Crossref 20. Rubenstein AE, Mytilineoau C, Yahr MD, Revoltella RP. Neurological aspects of neurofibromatosis . In: Riccardi VM, Mulvihill JJ, eds. Advances in Neurology . New York, NY: Raven Press; 1981;29:15. 21. Klippel M, Trenaunay P. Du naevus variqueux osteohypertrophique . Arch Med Gen. 1900;3:641-672. 22. Weber FP. Angioma formation in connection with hypertrophy of limbs and hemihypertrophy . Br JDermatol. 1907;19:231-235. 23. Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome . Arch Dermatol. 1968;97:273-285.Crossref 24. Lansky LL, Funderburk S, Cuppage FE, et al. Linear sebaceous nevus syndrome . AJDC. 1972;123:587-590. 25. Azouz EM, Costa T, Fitch N. Radiologic findings in the Proteus syndrome . Pediatr Radiol. 1987;17:481-485.Crossref 26. Bannayan GA. Lipomatosis, angiomatosis and macroencephalia . Arch Pathol Lab Med. 1971;92:1-5. 27. Higginbottom MC, Schulz P. The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors . Pediatrics . 1982;69:632-634. 28. Senior B, Gellis S. The syndromes of total lipodystrophy and of partial lipodystrophy . Pediatrics . 1964;33:593-612. 29. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin . J Am Acad Dermatol. 1987;16:899-906.Crossref 30. Happle R. Cutaneous manifestation of lethal genes . Hum Genet. 1986;72:280.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Loading next page...
 
/lp/american-medical-association/proteus-syndrome-R6cvFQGL0T
Publisher
American Medical Association
Copyright
Copyright © 1989 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1989.01670200085015
Publisher site
See Article on Publisher Site

Abstract

Abstract • The term Proteus syndrome was coined in 1983 to describe a disorder of skeletal, hamartomatous, and other mesodermal malformations. The syndrome was named after the Greek god Proteus, whose name means "the Polymorphous." Clinical features of this new syndrome are currently being defined. Including the case reported herein, we have found 34 patients with Proteus syndrome described in the English literature. Major clinical findings, defined as those findings seen in more than half of the cases, include hemihypertrophy, macrodactyly, exostoses, epidermal nevi, characteristic cerebriform masses involving the plantar or palmar surfaces, a variety of subcutaneous masses, and scoliosis. Histologic examination of subcutaneous masses has identified a variety of lipomatous, hamartomatous, and angiomatous tumors. (Arch Dermatol. 1989;125:1109-1114) References 1. Wiedemann H-R, Burgio GR, Aldenhoff P. The Proteus syndrome . Eur J Pediatr. 1983;140:5-12.Crossref 2. Fay JT, Schow SR. A possible case of Maffucci's syndrome . J Oral Surg . 1968;26:739-744. 3. Kontras SB. Case Report 19 . Synd Ident . 1974;2:1-3. 4. Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome . In: Bergsma D, ed. DBOAS: Penetrance and Variability in Malformation Syndromes . New York, NY: Alan R Liss Inc; 1979;15:291-296. National Foundation—March of Dimes Series. 5. Horton WA. Klippel-Trenaunay syndrome . In: Bergsma D, ed. DBOAS: Skin, Hair and Nails . Baltimore, Md: Williams & Wilkins; 1971;7:316-318. National Foundation—March of Dimes Series. 6. Temtamy SA, Rogers JG. Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature . J Pediatr. 1976;89:924-927.Crossref 7. Pawlaczyk B, Sioda T. Hypertrophied lumbar and muscular atrophy . Synd Ident. 1976;4:4. 8. Cohen MM Jr. Invited historical comment: further diagnostic thoughts about the Elephant Man . Am J Med Genet. 1988;29:777-782.Crossref 9. Tibbles JAR, Cohen MM Jr. Proteus syndrome: the Elephant Man diagnosed . Br Med J. 1986;293:683-685.Crossref 10. Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M. Proteus syndrome: an expanding phenotype . Am J Med Genet. 1987; 27:99-117.Crossref 11. Mucke J, Willgerodt H, Kunzel R, Brock D. Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis . Eur J Pediatr. 1985;143:320-323.Crossref 12. Viljoen DL, Nelson MM, de Jong G, Beighton P. Proteus syndrome in South Africa: natural history and clinical manifestations in six individuals . Am J Med Genet. 1987;27:87-97.Crossref 13. Viljoen DL, Saxe N, Temple-Camp C. Cutaneous manifestations of the Proteus syndrome . Pediatr Dermatol . 1988;5:14-21.Crossref 14. Malamitsi-Puchner A, Kitsiou S, Bartsocas CS. Brief clinical report: severe Proteus syndrome in an 18-month-old boy . Am J Med Genet. 1987;27:119-125.Crossref 15. Fitch N, Azouz EM. Proteus syndrome: report of two cases with pelvic lipomatosis . Pediatrics . 1985;76:984-989. 16. Lezama DB, Buyse ML. The Proteus syndrome: the emergence of an entity . J Clin Dysmorphol. 1984;2:10-13. 17. Gorlin RJ. Proteus syndrome . J Clin Dysmorphol. 1984;2: 8-9. 18. Uitto J, Bauer EA, Santa Cruz DJ, Holtmann B, Eisen AZ. Decreased collagenase production by regional fibroblasts cultured from skin of a patient with connective tissue nevi of the collagen type . J Invest Dermatol. 1982;78:136-140.Crossref 19. Riccardi VM. Von Recklinghausen neurofibromatosis . N Engl J Med. 1981;305:1617-1626.Crossref 20. Rubenstein AE, Mytilineoau C, Yahr MD, Revoltella RP. Neurological aspects of neurofibromatosis . In: Riccardi VM, Mulvihill JJ, eds. Advances in Neurology . New York, NY: Raven Press; 1981;29:15. 21. Klippel M, Trenaunay P. Du naevus variqueux osteohypertrophique . Arch Med Gen. 1900;3:641-672. 22. Weber FP. Angioma formation in connection with hypertrophy of limbs and hemihypertrophy . Br JDermatol. 1907;19:231-235. 23. Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome . Arch Dermatol. 1968;97:273-285.Crossref 24. Lansky LL, Funderburk S, Cuppage FE, et al. Linear sebaceous nevus syndrome . AJDC. 1972;123:587-590. 25. Azouz EM, Costa T, Fitch N. Radiologic findings in the Proteus syndrome . Pediatr Radiol. 1987;17:481-485.Crossref 26. Bannayan GA. Lipomatosis, angiomatosis and macroencephalia . Arch Pathol Lab Med. 1971;92:1-5. 27. Higginbottom MC, Schulz P. The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors . Pediatrics . 1982;69:632-634. 28. Senior B, Gellis S. The syndromes of total lipodystrophy and of partial lipodystrophy . Pediatrics . 1964;33:593-612. 29. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin . J Am Acad Dermatol. 1987;16:899-906.Crossref 30. Happle R. Cutaneous manifestation of lethal genes . Hum Genet. 1986;72:280.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Aug 1, 1989

References