[MIM 153 350]

(Bannayan-Zonana syndrome, Riley-Smith syndrome, Ruvalcaba-Riley-Smith syndrome)

Autosomal dominant transmission of mutations in the PTEN tumor suppressor gene (acronym of Phosphatase and Tensin homolog deleted on chromosome TEN) (10q23.31), coding for a tyrosine phosphatase. Cowden syndrome (or disease)  seems to be a variant of this syndrome.

Clinical presentation:

-        macrocephaly, 

-        multiple lipomas, 

-        intestinal polyps (ileum, colon), 

-        cutaneous and vascular hamartoma,  

-        pigmented marks on the penis

-        hypotonia associated with an accumulation of lipids in the proximal muscles (60 %)

-        psychomotor retardation

Increased risk of cancer (thyroid, breast).

Anesthetic implications: 

Repeated anesthesia. Lymphoid hypertrophy at the level of Waldeyer's ring (risk of airway obstruction). Difficult intubation. Perivertebral vascular  malformations.

References : 

-         Pancaro C, Miller T, Dingeman RS. 
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. 
Anesth Analg 2008; 106: 1928-9.

-         Lachlan KL, Lucassen AM, Bunyan D, Temple IK. 
Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 
J Med Genet 2007; 44: 579-85.

Updated: November 2023