Proteus Syndrome: 2 Case Reports and a Review of the Literature
Proteus syndrome is a rare condition that has a variable clinical presentation. The syndrome is characterized by asymmetric disproportionate enlargement of the limbs, skull, or vertebrae, associated with a number of cutaneous lesions. Herein, the clinical findings of 2 patients with Proteus syndrome are presented and the current clinical diagnostic criteria are reviewed.
When confronted with a patient suspected of having Proteus syndrome, the initial evaluation should include baseline skeletal and vertebral radiographs and clinical photographs. In addition, a high-resolution chest computed tomographic scan should be performed to evaluate pulmonary cysts and magnetic resonance imaging to evaluate intracranial malformation and to rule out the presence of intra-abdominal or intrathoracic lipomas.3,6 Surgical management should be directed toward functional improvement. Patients with leg-length discrepancy, joint immobility, and macrodactyly are best managed by a team consisting of an experienced orthopedic surgeon, pediatrician, and physical and occupational therapists. The patient also may require consultation with a craniofacial or oral maxillofacial surgeon if airway obstruction or feeding difficulties occur because of hemifacial macrosomia. In addition, surgical consultation may be required for resection of internal lipomas or cystic lung malformations. Because of the high incidence of deep vein thrombosis, it is recommended that antithrombotic prophylaxis is considered prior to all surgical procedures.3
Conclusion
Proteus syndrome is a complex disorder with a variable clinical presentation, yet an appropriate diagnosis can be established if the diagnostic guidelines are followed. Despite the rarity of Proteus syndrome, support networks exist to help patients and their families manage the disease.
