Table 1 Revised PS diagnostic criteria.

From: The challenges of Proteus syndrome: diagnosis and management

To make a diagnosis of PS, one must have all the general criteria, and various specific criteria

General Criteria

Specific Criteria

 All the following:

 Either:

Mosaic distribution of lesions

Category A or,

Sporadic occurrence

Two from category B or,

Progressive course

Three from category C

Specific criteria categories

  

 A.

1. Cerebriform connective tissue nevusa

C.

1. Dysregulated adipose tissue

 B.

1. Linear epidermal nevus

 

Either one:

 

2. Asymmetric, disproportionate overgrowthb

 

 (a) Lipomas

 

One or more:

 

 (b) Regional lipohypoplasia

 

 (a) Limbs

 

2. Vascular malformations

 

 (b) Hyperostosis of the skull

 

 One or more:

 

 (c) Hyperostosis of the external auditory canal

 

 (a) Capillary malformation

 

 (d) Megaspondylodysplasia

 

 (b) Venous malformation

 

 (e) Viscera:

 

 (c) Lymphatic malformation

 

Spleen/thymus

 

3. Lung cysts

 

3. Specific tumors before 2nd decade

 

4. Facial phenotype

 

One of the following:

 

 All:

 

 (a) Bilateral ovarian cystadenoma

 

 (a) Dolichocephaly

 

 (b) Parotid monomorphic adenoma

 

 (b) Long face

   

 (c) Down slanting palpebral fissures and/or minor ptosis

   

 (d) Low nasal bridge

   

 (e) Wide or anteverted nares

   

 (f) Open mouth at rest

  1. This table is adapted from prior publications.6, 8, 21
  2. aCerebriform connective tissue nevi are skin lesions characterized by deep grooves and gyrations as seen on the surface of the brain. See text and Figure 1 for details.
  3. bAsymmetric, disproportionate overgrowth should be carefully distinguished from asymmetric, proportionate, or ballooning overgrowth. See text and Figure 1 for details.
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