Proteus Syndrome Follow-up

Updated: Feb 04, 2016
  • Author: Megan Barry, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Further Outpatient Care

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  • 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. [19] 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.)

Further Inpatient Care

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


See the list below:

  • 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


See the list below:

  • 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.