Proteus Syndrome Follow-up

Updated: Jun 13, 2018
  • Author: Megan Barry, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Follow-up

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. [25] 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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Further Inpatient Care

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

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Complications

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  • 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

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  • 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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