Search for a rare disease
Other search option(s)
Proteus-like syndrome
Disease definition
Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.
ORPHA:2969
Classification level: DisorderSummary
Epidemiology
The prevalence is unknown.
Clinical description
Proteus-like syndrome has the clinical features of Proteus syndrome but lacks some of the required criteria necessary for diagnosis. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi.
Etiology
Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma tumor syndrome (PHTS; see this term) group. To date, mutations in AKT1 have not been reported in Proteus-like patients. It is possible that Proteus-like patients will have somatic mosaic or germline mutations in genes encoding other components of the phosphatidylinositol 3-kinase signalling pathway.
Genetic counseling
Inheritance is autosomal dominant in those with a PTEN mutation.
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2020) - Eur J Hum Genet
Disease review articles
- Review article
- English (2014) - Orphanet J Rare Dis
- Clinical genetics review
- English (2021) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information