Scoliosis in individuals with Proteus syndrome can advance extremely rapidly, and attentive and frequent monitoring is warranted.Cerebriform connective tissue nevi (CCTN). Am J Med Genet.
170.

https://www.researchgate.net/publication/302270913_The_Fourth_International_Symposium_on_Genetic_Disorders_of_the_RasMAPK_Pathway,Lindhurst, Marjorie & C Sapp, Julie & Teer, Jamie & Johnston, Jennifer & Finn, Erin & Peters, Kathryn & Turner, Joyce & Cannons, Jennifer & Bick, David & Blakemore, Laurel & Blumhorst, Catherine & Brockmann, Knut & Calder, Peter & Cherman, Natasha & Deardorff, Matthew & Everman, David & Golas, Gretchen & M Greenstein, Robert & Maya Kato, B & G Biesecker, Leslie. The specific symptoms and severity varies greatly from patient to patient. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. The musculoskeletal manifestations are cardinal for the diagnosis of Proteus syndrome. 2004;130A:111-22.Cohen MM Jr. Proteus syndrome: an update. 365. The specific symptoms and severity varies greatl… Two affected individuals may not have similar malformations, and their conditions, signs and symptoms, and treatments will also vary from each other.Medical experts have a list of various features exhibited by a person suffering from Proteus syndrome. Progressive, bony overgrowth eventually affects the joints limiting range of motion. Because of this, ongoing and comprehensive rehabilitation medicine care, including physical and occupational therapy, is important for many individuals. For reasons that are unclear, affected people with neurological symptoms are more likely to have distinctive facial features than those without neurological symptoms. Some affected individuals may exhibit only a few, mild symptoms of Proteus syndrome, making diagnosis extremely difficult.Most affected individuals are born without any noticeable symptoms. In some patients, intellectual disability may be present and seizures have been reported as well. Overgrowth becomes apparent between the ages of 6 and 18 months and becomes more severe with age. However, many researchers now believe that individuals with PTEN gene mutations and asymmetric overgrowth do not meet the strict guidelines for a diagnosis of Proteus syndrome. Ultrasound is used to detect scrotal or ovarian masses and can be used to evaluate deep vein thromboses.The treatment of Proteus is directed toward the specific symptoms that are apparent in each individual. 2001;285:2240-2243.Biesecker LG, Happle R, Mulliken JB, et al. The overgrowth is progressive and usually asymmetric.

Because any organ or tissue can be affected, the affected person should be monitored for any possible complication. The condition is also referred as Wiedemann’s syndrome, coined after Hans-Rudolf Wiedemann. Bone, connective tissue and fat are the most commonly affected tissues in the body.Overgrowth associated with Proteus syndrome is irregular, disproportionate, and may affect one side of the body such as only one foot and not the other (asymmetric). The various organs and bones of the body are abnormally increased in size. Lymph vessels are part of the lymphatic system, the circulatory network of vessels, ducts and nodes that filter and distribute certain protein-rich fluid (lymph) and blood cells throughout the body.Individuals with Proteus syndrome may be at risk for developing blood clots in the legs a condition known as deep vein thrombosis (DVT). NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Children and adults with Proteus syndrome are at risk to get a type of blood clot called a deep vein thrombosis (DVT), which can cause a serious problem called a pulmonary embolism.
The different bodily defects can be noticed and diagnosed during later toddler-hood or early childhood. In addition to fatty tissue overgrowth, some affected individuals may develop areas of fatty tissue loss (atrophy) especially in the chest.Affected children may also develop a raised, rough (verrucous) lesion (epidermal nevus) that is usually rough and dark brown or brownish-black. The soles of the feet may be unusually thickened.Most of the medical challenges arise from the orthopedic complications of the condition. The skin, the musculoskeletal system, the central nervous system, and adipose tissues are affected the most, producing profound disfigurement and life-threatening complications. The limbs and digits may be prone to overgrowth that can result in partial gigantism. In some, a piece of a DVT may break off and travel up the bloodstream toward the lungs, where it may cause a pulmonary embolism. A health care provider may consider these conditions in the table below when making a diagnosis.


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