Proteus syndrome

[MIM 176 920]

(Elephant man disease)

Prevalence estimated at 1/1.000.000. Excessive growth (in 'mosaic') of different tissues (skin, subcutaneous tissue, bones, central nervous system) due to a point mutation of the AKT1 (14q32-33) gene. This causes the growth of benign or malignant tumors (angiolipomatosis) and skeletal deformities (scoliosis, inequality of limbs).


Clinical picture:

-        cutaneous nevi who present as large warty lesions,

-        asymmetric growth of the body or limb, narrow vertebral canal

-        cutaneous papillomatosis or acanthosis, lipomas, 

-        pulmonary cysts, sometimes associated to venous varicosities with a risk of hemoptysis

-        ENT tumors with deformation of the epiglottis

-        vascular malformations (varicose veins) with thromboembolic risk.

-        neurologic signs: intellectual deficit, thrombosis of the sinus and intracranial lesions


Increased risk of sudden death, abnormalities of the central nervous system, cardiac arrhythmias (rare myocardial tumors), ENT complications (hypertrophy of the tonsils, deformation of the epiglottis).

A treatment by tacrolimus seems to delay the onset and the growth of the tumors.


Anesthetic implications:

ECG and echocardiography. Check chest XRay to exclude the presence of pulmonary cysts. NB: cranial deformations, ENT tumours or external compression of the airway may render intubation difficult. Locoregional anesthesia: echoguided peripheral blocks, very cautious approach in case of neuraxial block (spinal canal stenosis, vascular malformation, tumor ?). Thromboprophylaxis. Difficulties in positioning for surgery.


References : 

-        Pennant JH, Harris MF.
Anaesthesia for Proteus syndrome.
Anaesthesia 1991 ; 46 : 126-8.

-        Ceyhan A, Gulhan Y,Cakan T, Adisen Y, Turgut O, Unal N.
Anaesthesia for Proteus syndrome.
Eur J Anaesthesiol 2000 ; 17 : 645-7.

-        Pradhan A, Sen I, Batra YK, Biswas G.
Proteus syndrome: a concern for the anesthesiologist.
Anesth Analg 2003; 96-907-8.

-        Cekmen N, Kordan AZ, Tuncer B, Gungor I, Akcabay M.
Anesthesia for Proteus syndrome.
Pediatr Anesth 2004 ; 14 : 689-92

-        Sethi D.
Proteus syndrome: what the anesthetist should know.
J Clin Anesth 2015; 27: 419-22

-        Kingwill AC, Lamacraft G.
Ultrasound-guided neural blockade in Proteus syndrome.
SAJAA 2015; 21: 21-3.

-        Alevizou A, Florou P, Batistaki C, Kostopanagioutou G.
Anaesthesia and Orphan disease: airway management in Proteus disease.
Eur J Anaesthesiol 2017; 34: 180-1

-        Chen Y, Qi W, Huang H.
Selection of anesthesia for lower extremity surgery of patients with Proteus syndrome.
J Clin Anesth 2019; 55: 79-82.

-        Le S, Lo C, Kim E.
Supraglottic mass management in a pediatric patient with Proteus syndrome.
Anesthesiology 2020 ; 132 : 895

-        Priya V, Shamim R, Prasad G.
Proteus Syndrome, anticipated difficult airway, and 2 trusted lieutenants!
Turk J Anaesthesiol Reanim 2022; 50 :465-6


Updated: December 2022