Because of carrying excess weight and enlarged limbs, arthritis and muscle pain may also be symptoms. There is a risk of premature death in affected individuals due to deep vein thrombosis and pulmonary embolism caused by the vessel malformations that are associated with this disorder. The severity and locations of these various asymmetrical growths vary greatly but typically the skull, one or more limbs, and soles of the feet will be affected. The musculoskeletal manifestations are cardinal for the diagnosis of Proteus syndrome.
Tumors of skin and bone growths appear as they age typically in early childhood. Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Those most readily diagnosed are also the most severely disfigured.įacial asymmetry, ptosis of right eyelid, proptosis As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976. The syndrome is named after the Greek sea-god Proteus, who could change his shape. The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Other names: Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndromeĪlex Green, a 7-year-old boy with Proteus syndrome, confirmed to have the AKT1 p.E17K somatic variant Human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels Template:SHORTDESC:human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels Proteus syndrome