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. Author manuscript; available in PMC: 2015 Sep 1.
Published in final edited form as: JAMA Dermatol. 2014 Sep;150(9):990–993. doi: 10.1001/jamadermatol.2013.10368

Table 1.

The diagnostic criteria for Proteus syndrome

General Criteria

  • - Mosaic distribution of lesions

  • - Sporadic occurrence

  • - Progressive course

Specific Criteria
Category A

  • - Cerebriform connective tissue nevus (plantar cerebriform collagenoma)

Category B

  • - Linear epidermal nevus

  • - Asymmetric disproportionate overgrowth
    • One or more: limbs, skull, external auditory canal, vertebrae, or viscera
  • - Specific tumors before second decade:
    • Bilateral ovarian cystadenoma or parotid monomorphic adenoma
Category C
  • - Dysregulated adipose tissue
    • Lipomatous overgrowth or regional lipohypoplasia
  • - Vascular malformations
    • One or more: capillary, venous, lymphatic

  • - Lung bullae

  • - Facial phenotype
    • Dolichocephaly, long face, down slanting palpebral fissures and/or minor ptosis, depressed nasal bridge, wide or anteverted nares, open mouth at rest
A diagnosis of Proteus syndrome requires all 3 general criteria plus:
1 criterion from category A, or 2 criteria from category B, or 3 criteria from category C (Adapted from Biesecker, 2006)14