"Diagnosis is confirmed by genetic testing for the somatic AKT1 mutation in the affected tissues (not blood) 7."
"To consider a diagnosis of Proteus syndrome, the patient should have all three of the general characteristics in addition to some specific characteristics. The specific characteristics are grouped into three categories: A, B, and C. Diagnosis of Proteus syndrome requires all three general features to be present and either one feature from category A, or two features from category B, or three features from category C 9,10."
"General criteria (all should be present)"
"Specific criteria"
"abnormal facial features, e.g. dolichocephaly, long face, down slanting palpebral fissures and/or minor dropping of the eyelids (ptosis), low nasal bridge, anteverted nares and open mouth at rest"
"vascular malformations: capillary, venous or lymphatic"
"Proteus syndrome is caused by sporadic mosaic mutations of a serine/threonine protein kinase encoded by the AKT1 gene; non-mosaic mutations are lethal. This enzyme is essential for normal cell growth hormone response. The genetic basis of the condition was elucidated in 2011 7,8."
"History and etymology"