Previous research had suggested the condition linked to PTEN on chromosome 10, while other research pointed to chromosome 16. identified an activating mutation in AKT1 kinase in a mosaic state gene. In 26 of 29 patients who met strict clinical criteria for the disorder, Lindhurst et al. In 2011 researchers determined the cause of Proteus syndrome. A genetic mutation during embryonic development gives rise to overgrowth in a subset of the individual's cells Proteus syndrome is an overgrowth disorder caused by a rare genetic mosaicism. Because of the rarity of the syndrome and the variability of signs, the orthopaedic management should be individualized. Patients can also exhibit deformation of the skull in the form of dolichocephaly or elongated skull and facial abnormalities. Patients with Proteus syndrome can have regular bone configuration and contours despite the bone enlargement. Afflicted patients usually have localized periarticular limb distortions, limb length discrepancy, and spine deformity. The orthopaedic features are usually bilateral, asymmetrical, progressive and involving all four limbs and spine. Patients tend to demonstrate a unique pattern of skeletal abnormalities. The musculoskeletal manifestations of Proteus syndrome are frequent and recognizable. Hemimegalencephaly is often found to be associated.
Īfflicted individuals are at increased risk for developing certain tumors including unilateral ovarian cystadenomas, testicular tumors, meningiomas, and monomorphic adenomas of the parotid gland. In addition, the presence of visible deformity may have a negative effect on the social experiences of the affected individual, causing cognitive and social deficits. The disorder itself does not uniformly cause learning impairments: the distribution of intelligence deficits among sufferers of Proteus syndrome appears higher than that of the general population, although this is difficult to determine with statistical significance. Further risks may occur due to the mass of extra tissue. 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.
#Proteus syndrome skin#
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. American pathologist Michael Cohen described it in 1979. 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.
Those most readily diagnosed are also the most severely disfigured. 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 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.
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndromeĪlex Hoag, a 7-year-old boy with Proteus syndrome, confirmed to have the AKT1 p.E17K somatic variant.