Table 1.

Proteus syndrome diagnostic criteria in two individuals

Proteus syndrome diagnostic criteriaa	Individual OG194	Individual OG111
Mosaic distribution of lesions	Yes	Yes
Sporadic occurrence	Yes	Yes
Progressive course	Minimalb	Minimalb
(A) Cerebriform connective tissue nevus	Yes	Yes
(B) Linear epidermal nevus	No	No
(B) Asymmetric, disproportionate overgrowth	Minimalb	Minimalb
(B) Bilateral ovarian cystadenoma or parotid monomorphic adenoma before second decade	No	No
(C) Dysregulated adipose tissue	Yes	No
(C) Vascular malformations	No	No
(C) Bullous lung disease	No	No
(C) Facial phenotype	No	No

^aDiagnosis requires all three general criteria AND either one from (A), two from (B), or three from (C).

^bThe history for progressive overgrowth was minimal in that they had some progressive overgrowth as an infant/toddler but little or none in the subsequent decades, which is quite different from the typical overgrowth of Proteus syndrome.