Table 1.

Diagnostic criteria for Proteus syndrome (PS)

General criteria

Mosaic distribution

Progressive course

Sporadic occurrence

Specific criteria

Category A

Cerebriform connective tissue nevus

Category B

Linear epidermal nevus

Asymmetric, disproportionate overgrowth of two of:

Limbs, skull, external auditory canal, vertebrae, or viscera

Specific tumors in the first decade of life:

Bilateral ovarian cystadenomas

Monomorphic parotid adenomas

Category C

Dysregulated adipose tissue

Vascular malformations:

Capillary, venous, and/or lymphatic

Lung bullae

Facial phenotype:

Long face, dolichocephaly, down-slanted palpebral fissures, low nasal bridge, wide or anteverted nares, open mouth at rest

The diagnosis of Proteus syndrome requires all three general criteria, plus the presence of the criterion from category A, or two criteria from category B, or three criteria from category C [1]