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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 ...
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]
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, subsequently becoming well known in London society.
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 ...
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 ]
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.
Proteus syndrome, a very rare congenital disorder known mostly for its most famous sufferer Joseph Merrick (the Elephant Man) Proteus-like syndrome , a condition similar to Proteus syndrome, but with an uncertain etiology
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome