Table 1 Revised diagnostic criteria for proteus syndrome (Biesecker 2006)
From: Proteus syndrome: clinical and radiological findings through a new case report
To make a diagnosis of PS, one must have all the general criteria and various specific criteria | |
|---|---|
General criteria | Specific criteria |
All the following: Mosaic distribution of lesions Sporadic occurrence Progressive course | Either: Category A or, Two from category B or, Three from category C |
Specific criteria categories | |
A | 1. Cerebriform connective tissue nevus |
B | 1. Linear epidermal nevus 2. Asymmetric, disproportionate overgrowth One or more: (a) Limbs (b) Hyperostosis of the skull (c) Hyperostosis of the external auditory canal (d) Megaspondylodysplasia (e) Viscera: Spleen/Thymus 3. Specific tumors before 2nd decade One of the following: (a) Bilateral ovarian cystadenoma (b) Parotid monomorphic adenoma |
C | 1. Dysregulated adipose tissue Either one: (a) Lipomas (b) Regional lipohypoplasia 2. Vascular malformations One or more: (a) Capillary malformation (b) Venous malformation (c) Lymphatic malformation 3. Lung cysts 4. Facial phenotype All: (a) Dolichocephaly (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 |