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 "and" symptom

achondroplasia

adrenomyeloneuropathy

aniridia

carcinoma of the gallbladder

cutaneous mastocytosis

cystinuria

esophageal squamous cell carcinoma

harlequin ichthyosis

hodgkin lymphoma, classical

hydrocephalus with stenosis of the aqueduct of sylvius

kallmann syndrome

liposarcoma

locked-in syndrome

neonatal adrenoleukodystrophy

omenn syndrome

oral submucous fibrosis

pleomorphic liposarcoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

trochlear dysplasia

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