eMedicine Specialties > Dermatology > Pediatric Diseases

Proteus Syndrome: Treatment & Medication

Author: Matthew J Mahlberg, MD, Resident Physician, Department of Dermatology, New York University School of Medicine
Coauthor(s): Mina Yassaee, University of Pennsylvania School of Medicine; William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
Contributor Information and Disclosures

Updated: Dec 10, 2008

Treatment

Medical Care

The aim of medical treatment is to minimize the physical and psychosocial consequences of Proteus syndrome; this requires a multidisciplinary approach.29

  • Antithrombotic prophylaxis should be considered if the patient is undergoing a surgical procedure because the patient's vascular malformations predispose them to deep venous thromboses and fatal pulmonary emboli.30
  • Cystic pulmonary lesions should be followed closely because they may progress to pneumonia, atelectasis and potentially, pulmonary insufficiency.
  • Cerebriform connective-tissue nevi are of considerable concern for patients, especially when present on the plantar surfaces, making walking uncomfortable. Conservative medical treatment for cerebriform connective-tissue nevi includes (1) keeping the feet clean and dry, (2) regularly applying antibacterial lotion to reduce odor, (3) closely monitoring for ulceration and infection, and (4) using orthotic devices. Attempts at surgical excision have led to poor outcomes; therefore, surgery is not recommended.13

Surgical Care

  • Preoperative evaluation should include assessment of the airway anatomy and pulmonary reserve because of the frequent presence of tonsillar hypertrophy and pulmonary cysts.31
  • Plastic surgeons and orthopedic surgeons can correct some skeletal defects. Epiphysiodesis can help correct asymmetric epiphyseal growth, and reduction osteotomy can be used to shorten long bones. Spinal fusion for overgrown vertebrae may prevent the development of severe kyphoscoliosis and the risk of pulmonary compromise.7,29
  • Subcutaneous tumors should be removed in the early stages.32
  • Gonadal deformities (ovarian or testicular) should be managed aggressively because of the high incidence of neoplastic transformation.31 The Medscape Testicular Cancer Resource Center and Ovarian Cancer Resource Center may be of interest.

Consultations

  • Consult a dermatologist.
  • Consult a plastic surgeon for the correction of defects.
  • Consult an orthopedic surgeon for the correction of skeletal deformities.
  • Ophthalmologists and neurologists may be helpful because many ocular manifestations and CNS anomalies associated with seizures or developmental delays are reported in patients with Proteus syndrome.
  • Referral to psychologist or psychiatrist is important for patients and for their families. The disease creates an isolating social stigma associated with having a very rare, progressive, disfiguring condition. Symptoms of depression have been reported in 23% of parents of affected children.33

More on Proteus Syndrome

Overview: Proteus Syndrome
Differential Diagnoses & Workup: Proteus Syndrome
Treatment & Medication: Proteus Syndrome
Follow-up: Proteus Syndrome
Multimedia: Proteus Syndrome
References
[ CLOSE WINDOW ]

References

  1. Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser. 1979;15(5B):291-6. [Medline].

  2. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr. Mar 1983;140(1):5-12. [Medline].

  3. Braun-Falco O, Plewig G, Wolff HH, et al. Dermatology. 2000. 2nd ed. Berlin: Springer; 849-50.

  4. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol. Apr 1987;16(4):899-906. [Medline].

  5. Cardoso MT, de Carvalho TB, Casulari LA, Ferrari I. Proteus syndrome and somatic mosaicism of the chromosome 16. Panminerva Med. Dec 2003;45(4):267-71. [Medline].

  6. Happle R. The manifold faces of proteus syndrome. Arch Dermatol. Aug 2004;140(8):1001-2. [Medline].

  7. Cohen MM Jr. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet. Aug 15 2005;137(1):38-52. [Medline].

  8. Brockmann K, Happle R, Oeffner F, Konig A. Monozygotic twins discordant for Proteus syndrome. Am J Med Genet A. Aug 15 2008;146A(16):2122-5. [Medline].

  9. Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A. Oct 1 2004;130(2):111-22. [Medline].

  10. Nazzaro V, Cambiaghi S, Montagnani A, Brusasco A, Cerri A, Caputo R. Proteus syndrome. Ultrastructural study of linear verrucous and depigmented nevi. J Am Acad Dermatol. Aug 1991;25(2 Pt 2):377-83. [Medline].

  11. Twede JV, Turner JT, Biesecker LG, Darling TN. Evolution of skin lesions in Proteus syndrome. J Am Acad Dermatol. May 2005;52(5):834-8. [Medline].

  12. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. Jun 11 1999;84(5):389-95. [Medline].

  13. Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN. Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol. Aug 2004;140(8):947-53. [Medline].

  14. del Rosario Barona-Mazuera M, Hidalgo-Galván LR, de la Luz Orozco-Covarrubias, Durán-McKinster C, Tamayo-Sánchez L, Ruiz-Maldonado R. Proteus syndrome: new findings in seven patients. Pediatr Dermatol. Jan-Feb 1997;14(1):1-5. [Medline].

  15. Cohen MM Jr. Proteus syndrome. In: Cohen MM Jr, Neri G, Weksberg R, eds. Overgrowth Syndromes. New York, NY: Oxford University Press; 2002:75-110.

  16. Nelson AA, Ruben BS. Isolated plantar collagenoma not associated with Proteus syndrome. J Am Acad Dermatol. Mar 2008;58(3):497-9. [Medline].

  17. Samlaska CP, Levin SW, James WD, Benson PM, Walker JC, Perlik PC. Proteus syndrome. Arch Dermatol. Aug 1989;125(8):1109-14. [Medline].

  18. Atherton DJ. Naevi and other developmental defects. In: Champion RH, Burton JL, Burns DA, eds. Rook/Wilkinson/Ebling's Textbook of Dermatology. 6th ed. Oxford, England: Blackwell Science; 1998:519-616.

  19. Cohen MM Jr. Proteus syndrome: clinical evidence for somatic mosaicism and selective review. Am J Med Genet. Oct 1 1993;47(5):645-52. [Medline].

  20. Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. Radiologic manifestations of Proteus syndrome. Radiographics. Jul-Aug 2004;24(4):1051-68. [Medline].

  21. Asahina A, Fujita H, Omori T, Kai H, Yamamoto M, Mii K. Proteus syndrome complicated by multiple spinal meningiomas. Clin Exp Dermatol. Nov 2008;33(6):729-32. [Medline].

  22. Newman B, Urbach AH, Orenstein D, Dickman PS. Proteus syndrome: emphasis on the pulmonary manifestations. Pediatr Radiol. 1994;24(3):189-93. [Medline].

  23. Franc-Guimond J, Houle AM, Barrieras D. The Proteus syndrome associated with life threatening hematuria. J Urol. Dec 2003;170(6 Pt 1):2418-9. [Medline].

  24. De Becker I, Gajda DJ, Gilbert-Barness E, Cohen MM Jr. Ocular manifestations in Proteus syndrome. Am J Med Genet. Jun 19 2000;92(5):350-2. [Medline].

  25. Hodge D, Misbah SA, Mueller RF, Glass EJ, Chetcuti PA. Proteus syndrome and immunodeficiency. Arch Dis Child. Mar 2000;82(3):234-5. [Medline].

  26. Biesecker LG, Peters KF, Darling TN, Choyke P, Hill S, Schimke N, et al. Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia. Am J Med Genet. Oct 2 1998;79(4):311-8. [Medline].

  27. Hagari Y, Aso M, Shimao S, Okano T, Kurimasa A, Takeshita K. Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome. J Dermatol. Aug 1992;19(8):477-80. [Medline].

  28. McCall S, Ramzy MI, Curé JK, Pai GS. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet. Jul 1 1992;43(4):662-8. [Medline].

  29. Biesecker LG. Proteus Syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 2nd ed. New York, NY: Wiley-Liss; 2005:437-44.

  30. Cohen MM Jr. Causes of premature death in Proteus syndrome. Am J Med Genet. Jun 1 2001;101(1):1-3. [Medline].

  31. Lublin M, Schwartzentruber DJ, Lukish J, Chester C, Biesecker LG, Newman KD. Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. J Pediatr Surg. Jul 2002;37(7):1013-20. [Medline].

  32. Vaughn RY, Selinger AD, Howell CG, Parrish RA, Edgerton MT. Proteus syndrome: diagnosis and surgical management. J Pediatr Surg. Jan 1993;28(1):5-10. [Medline].

  33. Peters KF, Biesecker LG. An opportunity for genetic counseling intervention: Depression in parents of individuals with proteus syndrome. J Genet Couns. 2000;9:161-70.

  34. Choi ML, Wey PD, Borah GL. Pediatric peripheral neuropathy in proteus syndrome. Ann Plast Surg. May 1998;40(5):528-32. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

PS, hamartomatous disorder, multifarious mesodermal malformation, plurifocal overgrowth, partial gigantism, regional gigantism

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Matthew J Mahlberg, MD, Resident Physician, Department of Dermatology, New York University School of Medicine
Matthew J Mahlberg, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Coauthor(s)

Mina Yassaee, University of Pennsylvania School of Medicine
Mina Yassaee is a member of the following medical societies: Phi Beta Kappa and Sigma Xi
Disclosure: Nothing to disclose.

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

Medical Editor

Albert C Yan, MD, Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania
Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Society for Investigative Dermatology, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Jeffrey J Miller, MD, Associate Professor of Dermatology, Penn State University College of Medicine; Staff Dermatologist, Penn State Milton S Hershey Medical Center
Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Professors of Dermatology, North American Hair Research Society, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.