Table 1.

Biesecker’s Criterion of Proteus Syndrome

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
Source: Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM, Jr., Viljoen DL, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999;84:389-95.8 ( add to references)