title: Proteus syndrome review: molecular, clinical, and pathologic features.
abstract: Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: M Michael
authors.initials: MM
authors.lastname: Cohen
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D008067:Lipoma / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D016715:Proteus Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology*; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*
chemical_list: C494918:AKT1 protein, human; D051057:Proto-Oncogene Proteins c-akt
keywords: AKT1 mutation; Joseph Merrick; bullous lung alterations; cerebriform connective tissue nevus; deep vein thrombosis; diagnostic criteria; differential diagnosis; disproportionate overgrowth; dysregulated adipose tissue; epidermal nevus; management; natural history; psychosocial issues; skeletal anomalies; unusual neoplasms; vascular malformations