Proteus syndrome

Classification	D OMIM: 176920; MeSH: D016715; DiseasesDB: 30070;
External resources	eMedicine: derm/721 ped/1912; Orphanet: 744;

Proteus syndrome
Proteus syndrome
Other names	Partial 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.
Medical specialty	Medical genetics
Symptoms	Macrodactyly, Macrocephaly, Scoliosis
Differential diagnosis	Neurofibromatosis type I; Sotos syndrome; Beckwith–Wiedemann syndrome

Proteus syndrome is a genetic disorder^[1] that scientists believe Joseph Carey Merrick (also known as Elephant Man) had contracted from birth. Victims of Proteus syndrome have large tumours and overgrown parts of their body.

References

↑ 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.

Other websites

GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS)

This short article about medicine can be made longer. You can help Wikipedia by adding to it.

[Andrews-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.

[1]

Classification	D OMIM: 176920 MeSH: D016715 DiseasesDB: 30070
External resources	eMedicine: derm/721 ped/1912 Orphanet: 744