Proteus outside corners of the eyes that point

Proteus SyndromeThis is a condition also known as Wiedemann’s syndromeNamed after man named Hans-Rudolf wiedemannThe word “Proteus comes from the name of the ancient greek god of changeNamed due to the overgrowth in proteus syndrome and how the body changes in shape over timeThe elephant manJoseph Merrick suffered from neurofibromatosis type 1 (NF1) was named elephant man1986, geneticists Tibbles and Cohen saw that Merrick was actually afflicted with Proteus syndrome, a much rarer conditionCause of Proteus syndromeresults from a mutation in the AKT1 genenot inherited from a parentit arises randomly in one cell during the early stages of development before birthAs cells continue to grow and divide, some cells will have the mutation and other cells will notThis mixture of cells with and without a genetic mutation is known as mosaicism (1)When child is first born, the newborn has no sign of the syndrome during the early stagesOvergrowth becomes more visible between the ages of 6 and 18 months and gets more severe with as you growWhat is the AKT1 gene? regulates cell growth and division (proliferation) and cell death. A mutation in the gene will disrupt the cell’s ability to regulate its own growthThis will make it grow and divide abnormallyThe Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. In groups of cell that experience , studies suggest that the AKT1 gene mutation is more common there than in the parts of the body that grow normally.Biology of the disease/ disorderrare condition characterized by overgrowth of the bones, skin, and other tissuesOrgans and tissues affected by the disease grow out of proportion to the rest of the bodyThe overgrowth in the body affects the left side and ride side differently making it asymmetricOverall, the overgrowth can happen anywhere in the bodyBones in the limbs, skull, and spine are often affectedcan also cause a variety of skin growths, particularly a thick, raised, and deeply grooved lesion known as a cerebriform connective tissue nevusMost common on the soles of the feet and is hardly ever seen in conditions other than Proteus syndrome. In the syndrome, blood vessels and fat can also grow abnormally. Symptoms of disease/ disorderSome have neurological abnormalities, including intellectual disability, seizures, and vision loss. may also have distinctive facial features such as a long face, outside corners of the eyes that point downward (down-slanting palpebral fissures), a low nasal bridge with wide nostrils, and an open-mouth expression. For reasons unclear, affected people with neurological symptoms are more likely to have distinctive facial features than those without neurological symptomsIt is unclear how these signs and symptoms are related to abnormal growthOther potential complications of Proteus syndrome include an increased risk of developing various types of noncancerous (benign) tumors and a type of blood clot called a deep venous thrombosis (DVT)DVTs occur most often in the deep veins of the legs or arms. If these clots travel through the bloodstream, they can lodge in the lungs and cause a life-threatening complication called a pulmonary embolism. Pulmonary embolism is a common cause of death in people with Proteus syndrome.Incidence; statistics of occurrenceProteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwideOnly few hundred affected individuals have been reported in the medical literature.has been only 200 accounted cases of Proteus syndromeResearchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overgrowth have been mistakenly diagnosed with Proteus syndromeTreatments of disorderThe syndrome can be diagnosed through physical assessment as well as many other tests including: Radiographic studies of the skull, bones and limbs.MRI can be used in the diagnosis of the condition.Skin biopsy is used as a confirmatory test.Karyotype analysis would help in the identification of the characteristic gene of Proteus syndrome.Rapamycin therapyTherapy used for patients that have suffered from cystic lesions in the pulmonary system. It aids in attaining normal respiratory function. The cerebriform careIn  general, the patient is told to keep the area away and protect it from infection, being wounded or be inflicted of a lesion.The area should be kept clean and dry. Antibacterial lotion is given to put onto the area. SurgeryProteus syndrome can allow for a plastic surgery. It aids in correcting defects that may have or may impede in the daily activities of livingRemoval of tumors is also necessary to avoid the possible additional growth.References Proteus syndrome – Genetics Home Reference. (2012, July). Retrieved November 10, 2017, from https://ghr.nlm.nih.gov/condition/proteus-syndrome#definition National Organization for Rare Diseases, N. (n.d.). Proteus syndrome. Retrieved November 10, 2017, from https://rarediseases.org/rare-diseases/proteus-syndrome/ Proteus Syndrome. (n.d.). Retrieved November 10, 2017, from http://syndrome.org/proteus-syndrome/ Legendre, M. C., Charpentier-Côté, B. C., & And, R. D. (2010, September 20). Misidentification of the “Elephant Man” Disease. Retrieved November 10, 2017, from http://jabfm.org/content/24/1/112.full Blatty, D. (2015, September 18). Joseph Merrick. Retrieved November 10, 2017, from https://www.biography.com/people/elephant-man-joseph-merrick

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