Further Outpatient Care
See the list below:
-
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.)
Further Inpatient Care
See the list below:
-
Hospitalization may be necessary for major surgical procedures in patients with Proteus syndrome.
Complications
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
Prognosis
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.
-
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.
