Genetics of Proteus Syndrome Follow-up

  • Author: Beth A Pletcher, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 18, 2010
 

Further Inpatient Care

  • Hospitalization may be necessary for major surgical procedures in patients with Proteus syndrome.
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Further Outpatient Care

  • Although patients need comprehensive primary care, Proteus syndrome is so rare and complex that an experienced subspecialist, such as a geneticist, should serve as medical coordinator. Annual examinations focusing on common complications and disease progression with appropriate subspecialty referrals are in order.
  • Numerous authors have advocated for a team approach in the management of the myriad complications that can occur in patients with Proteus syndrome.
  • Guidelines developed for ongoing patients evaluations were published in 1999 and are still appropriate today.[17] These include the following:
    • Serial clinical photography to document progression or nonprogression
    • Skeletal survey at the time of diagnosis and subsequently as clinically indicated
    • MRIs of affected areas as well as the chest and abdomen to identify silent but potentially serious internal lesions
    • Dermatology consultation to address cutaneous lesions
    • Orthopedic consultation to monitor bony overgrowth with surgical intervention as needed
    • Routine pediatric or adult primary care follow-ups annually for a comprehensive examination (may also include gynecologic examinations for female patients)
    • Other consultations as needed (See Consultations.)
    • Referral to a family or peer support group (See Patient Education.)
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Complications

  • Hemihyperplasia, asymmetric overgrowth of limbs or digits, and megalospondylodysplasia
  • Scoliosis with or without unusual habitus
  • Macrocephaly, macroglossia, and cranial or auditory canal hyperostosis
  • Connective tissue nevi, epidermal nevi, lipomas, or vascular malformations
  • Clinically silent but locally invasive internal lipomas or vascular malformations
  • Pulmonary cystic malformations
  • Deep vein thrombosis (DVT), pulmonary embolism (PE), or both
  • Splenomegaly or thymic enlargement
  • Ovarian cystadenomas, testicular tumors, or parotid adenomas
  • Strabismus
  • Dental anomalies
  • Learning disabilities or mental retardation
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Prognosis

  • Although data on long-term survival are not currently available, complications (eg, CNS malformations, severe and progressive scoliosis, thrombotic events, invasive internal lesions) are likely to contribute to premature death in a subset of affected individuals.
  • Prompt attention to complications and early detection of potential problems may significantly reduce overall morbidity and mortality.
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Patient Education

  • Refer patients and their families to the following:
  • Proteus Syndrome Foundation
  • 4915 Dry Stone Drive
  • Colorado Springs, CO 80918
  • Phone: 719-264-8445
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Contributor Information and Disclosures
Author

Beth A Pletcher, MD  Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey

Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Elaine H Zackai, MD  Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia

Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Cohen MM Jr. "Proteus syndrome". In: Cohen MM Jr., Neri G, Weksberg R eds. Overgrowth Syndromes, Chapter 9. 170(6 Pt 1). New York: Oxford University Press; 2002:pp75-110.

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

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

  4. 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;130A(2):111-22. [Medline].

  5. Pazzaglia UE, Beluffi G, Bonaspetti G, et al. Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth. Pediatr Radiol. Aug 2007;37(8):829-35. [Medline].

  6. Happle R. Lipomatosis and partial lipohypoplasia in Proteus syndrome: a clinical clue for twin spotting?. Am J Med Genet. Apr 10 1995;56(3):332-3. [Medline].

  7. 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].

  8. Furquim I, Honjo R, Bae R, Andrade W, Santos M, Tannuri U. Proteus syndrome: report of a case with recurrent abdominal lipomatosis. J Pediatr Surg. Apr 2009;44(4):E1-3. [Medline].

  9. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet. Nov 2006;14(11):1151-7. [Medline].

  10. Bastos H, da Silva PF, de Albuquerque MA, Mattos A, Riesgo RS, Ohlweiler L. Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. Seizure. Jun 2008;17(4):378-82. [Medline].

  11. Elsayes KM, Menias CO, Dillman JR, et al. Vascular malformation and hemangiomatosis syndromes: spectrum of imaging manifestations. AJR Am J Roentgenol. May 2008;190(5):1291-9. [Medline].

  12. Irion KL, Hocchegger B, Marchiori E, et al. Proteus syndrome: high-resolution CT and CT pulmonary densitovolumetry findings. J Thorac Imaging. Feb 2009;24(1):45-8. [Medline].

  13. Hoey SE, Eastwood D, Monsell F, Kangesu L, Harper JI, Sebire NJ. Histopathological features of Proteus syndrome. Clin Exp Dermatol. May 2008;33(3):234-8. [Medline].

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  15. Buis J, Enjolras O, Soupre V, Roman S, Vazquez MP, Picard A. 980-nm laser diode and treatment of subcutaneous mass in Proteus-like syndrome. J Eur Acad Dermatol Venereol. Jan 2010;24(1):109-11. [Medline].

  16. Turner J, Biesecker B, Leib J, et al. Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. Am J Med Genet A. Sep 15 2007;143A(18):2089-97. [Medline].

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

  18. Becktor KB, Becktor JP, Karnes PS, Keller EE. Craniofacial and dental manifestations of Proteus syndrome: a case report. Cleft Palate Craniofac J. Mar 2002;39(2):233-45. [Medline].

  19. Biesecker LG, Peters KF, Darling TN, 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].

  20. Cohen MM Jr. Further diagnostic thoughts about the Elephant Man. Am J Med Genet. Apr 1988;29(4):777-82. [Medline].

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  22. 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].

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  26. 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].

  27. Hoeger PH, Martinez A, Maerker J, et al. Vascular anomalies in Proteus syndrome. Clin Exp Dermatol. May 2004;29(3):222-30. [Medline].

  28. Krüger G, Pelz L, Wiedemann HR. Transmission of Proteus syndrome from mother to son?. Am J Med Genet. Jan 1 1993;45(1):117-8. [Medline].

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

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

  31. Plötz SG, Abeck D, Plotz W, et al. Proteus syndrome with widespread portwine stain naevus. Br J Dermatol. Dec 1998;139(6):1060-3. [Medline].

  32. Sigaudy S, Fredouille C, Gambarelli D, et al. Prenatal ultrasonographic findings in Proteus syndrome. Prenat Diagn. Oct 1998;18(10):1091-4. [Medline].

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

  34. Wiedemann HR, Burgio GR, Aldenhoff P, et al. 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].

 
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Macroglossia and hemifacial overgrowth associated with hyperpigmentation.
Port wine stain on the trunk with small epidermal nevus.
Macrodactyly with splaying of toes after toe reduction procedure.
Ear enlargement associated with cutaneous hyperpigmentation and hemifacial macrosomia.
Scoliosis with scar resulting from prior surgical resection of a large subcutaneous lipoma.
Evidence of proximal muscle wasting of the upper extremities.
Hypertrophy of the thighs and calves.
Profile demonstrating retrognathia.
 
 
 
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