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Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Tumors of skin and bone growths appear as they age typically in early childhood. The musculoskeletal manifestations are ...
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [ 2 ]
Elephantiasis, often incorrectly called elephantitis, is the enlargement and hardening of limbs or body parts due to tissue swelling (). [1] [2] It is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels (). [2]
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor ...
In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her condition as a rare form of Proteus syndrome, [2] but Sellars herself has disputed the diagnosis. [3]
Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain cause. [1] It's characterized by skeletal and hamartous overgrowth of multiple tissues, nevi in cerebriform connective tissue, blood vessel malformations and linear epidermal nevi. [2] [3]
Cohen was born in Boston, Massachusetts, and studied at the University of Michigan, Tufts University, the University of Minnesota, and Boston University.His post-graduate training included a fellowship in pathology and medical genetics with Robert Gorlin (1923–2006), an oral pathologist and geneticist who described a large number of syndromes, including one they delineated together known as ...
Joseph Carey Merrick (5 August 1862 – 11 April 1890) was an English artist known for his severe physical deformities. He was first exhibited at a freak show under the stage name "The Elephant Man", and then went to live at the London Hospital, in Whitechapel, after meeting Sir Frederick Treves.