Alex Green, a 7-year-old boy with Proteus syndrome, confirmed to have the AKT1 p.E17K somatic variant. Alex died at the age of 9.
Specialty
Medical genetics
Proteus syndrome is a rare disorder with a genetic background[1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development.[2] The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations.[3][4]
Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition.[5] As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. Those most readily diagnosed are also the most severely disfigured.
The syndrome is named after the Greek sea-god Proteus, who could change his shape. The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976.[6][7] American pathologist Michael Cohen described it in 1979.[8]
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 554. ISBN 978-0-7216-2921-6.
^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^Cite error: The named reference elsobky2015 was invoked but never defined (see the help page).
^Temtamy SA, Rogers JG (December 1976). "Macrodactyly, hemihypertrophy, and connective tissue nevi: Report of a new syndrome and review of the literature". The Journal of Pediatrics. 89 (6): 924–927. doi:10.1016/S0022-3476(76)80597-5. PMID 993918.
^Opitz JM, Jorde LB (July 27, 2011). "Hamartoma Syndromes, Exome Sequencing, and a Protean Puzzle". The New England Journal of Medicine. 365 (7): 661–3. doi:10.1056/NEJMe1107384. PMID 21793737.
^Cohen MM, Hayden PW (1979). "A newly recognized hamartomatous syndrome". Birth Defects Orig. Artic. Ser. 15 (5B): 291–6. PMID 118782.
Proteussyndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus...
2003, Hurt was a patron of the ProteusSyndrome Foundation, both in the United Kingdom and in the US. Proteussyndrome is the condition that Joseph Merrick...
deformities is unclear, but in 1986 it was conjectured that he had Proteussyndrome. In a 2003 study, DNA tests on his hair and bones were inconclusive...
effects. CLOVES syndrome is closely linked to other overgrowth disorders like proteussyndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy...
both of her legs. In 2006, some doctors diagnosed Sellars as having Proteussyndrome, a very rare condition thought to affect only 120 people worldwide...
including Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, Proteussyndrome and Proteus-like syndrome. Absent or dysfunctional PTEN protein allows cells...
Bannayan–Riley–Ruvalcaba syndrome, and at least some forms of Proteussyndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS)....
Proteus vulgaris is a rod-shaped, nitrate-reducing, indole-positive and catalase-positive, hydrogen sulfide-producing, Gram-negative bacterium that inhabits...
century in Lepui, also suffered from physical and mental retardation and proteussyndrome. Siah Khan was born in 1913 in the village of Lapui, in the Zarghan...
activity. P. mirabilis causes 90% of all Proteus infections in humans. It is widely distributed in soil and water. Proteus mirabilis can migrate across the surface...
entities which are accompanied by multiple lipomas include Proteussyndrome, Cowden syndrome and related disorders due to PTEN gene mutations, benign symmetric...
(doctor) (1937–2018), doctor of dental medicine who first identified Proteussyndrome Michael Cohen (pharmacist), president of the Institute for Safe Medication...
pneumoniae, Proteus mirabilis, Escherichia coli, Morganella morganii, and Pseudomonas aeruginosa. People with purple urine bag syndrome usually do not...
elephantiasis, result of lymphogranuloma venereum[citation needed] Proteussyndrome, a genetic disorder best known as the condition possibly experienced...
care of physicians for their entire lives. Klippel–Trénaunay syndromeProteussyndrome Macrodystrophia lipomatosa Neurofibromatosis type 1 At the moment...
the Proteussyndrome". N. Engl. J. Med. 365 (7): 611–9. doi:10.1056/NEJMoa1104017. PMC 3170413. PMID 21793738. Cohen MM (2014). "Proteussyndrome review:...
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