| S.No |
Criteria |
| General Criteria |
| 1 |
Mosaic distribution
Progressive course
Sporadic occurrence |
| Specific Criteria |
| 2 |
Category A |
| Cerebriform connective tissue nevus |
| 3 |
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 |
| 4 |
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 generalcriteria, Plus one criterion from category A, or two criteria from category B, three criteria from category C.(Adapted from Biesecker, 2006) |
|
