Proteus syndrome review: molecular, clinical, and pathologic features.

[proteus syndrome]

Proteus syndrome is caused by an activating AKT 1 mutation (c .49 G >A , p .Glu 17 Lys ). 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 .

Diseases
Validation

Diseases presenting "nevus" symptom

child syndrome

cowden syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

gm1 gangliosidosis

kabuki syndrome

lamellar ichthyosis

liposarcoma

malignant atrophic papulosis

oculocutaneous albinism

proteus syndrome

sneddon syndrome

This symptom has already been validated