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 "seizures" symptom

alexander disease

alpha-thalassemia

cadasil

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

erdheim-chester disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

legionellosis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

phenylketonuria

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated