Proteus syndrome

Definition:

Proteus syndrome (PS) is a generally severe but highly variable disorder caused by an activating AKT1 mutation. The diagnosis of PS requires fulfillment of three general criteria: sporadic occurrence, mosaic distribution of lesions, and a progressive course in addition to various specific criteria. These specific manifestations include, but are not limited to, cerebriform connective tissue nevus, linear epidermal nevus, asymmetric, disproportionate overgrowth, dysregulated adipose tissue, vascular malformations, and lung cysts.

References:

[1]. Gozde Akgumus, et al. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway. J Mol Diagn. 2017 Jul;19(4):487-497. [Content Brief]

[2]. H R Wiedemann, et al. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr. 1983 Mar;140(1):5-12. [Content Brief]

[3]. Joyce T Turner, et al. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A. 2004 Oct 1;130A(2):111-22. [Content Brief]

[4]. M Michael Cohen Jr, et al. Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet. 2014 Feb;85(2):111-9. [Content Brief]

[5]. Marjorie J Lindhurst, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365(7):611-9. [Content Brief]

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