Proteus syndrome

Proteus syndrome
Other namesPartial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndrome
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.
SpecialtyMedical genetics Edit this on Wikidata

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]

  1. ^ 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.
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ Cite error: The named reference elsobky2015 was invoked but never defined (see the help page).
  4. ^ Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL (2004). "Radiologic manifestations of Proteus syndrome". Radiographics. 24 (4): 1051–68. doi:10.1148/rg.244035726. PMID 15256628.
  5. ^ Woman's 11-stone legs may be lost at BBC
  6. ^ 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.
  7. ^ 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.
  8. ^ Cohen MM, Hayden PW (1979). "A newly recognized hamartomatous syndrome". Birth Defects Orig. Artic. Ser. 15 (5B): 291–6. PMID 118782.