[MIM 158 350, 612 359, 615 106, 615 107, 615 108, 615 109]

Prevalence is estimated at 1/200,000. Malformative syndrome that is part of the hamartoma PTEN syndromes (for "Phosphatase and Tensin homolog deleted on chromosome TEN") due to a mutation in the PTEN tumor suppressor gene. Mutation at locus 10q23.2 as in the Bannayan-Riley-Ruvalcaba syndrome. Autosomal dominant transmission ,similar to Peutz-Jeghers syndrome.

Presence of multiple hamartoma (of small size) which are formed on the skin (oropharyngeal mucosal papillomatosis, trichilemmoma,  palmoplantar keratosis), thorax, thyroid, gastrointestinal tract (polyps containing a hamartoma), the endometrium and brain (meningiomas, vascular malformations). There is an increased risk of malignant breast, thyroid and endometrial tumors requiring annual monitoring from adolescence onwards. Macrocephaly is common.

Lhermitte-Duclos disease (see this term) is now part of this syndrome: it is a benign cerebellar gangliocytoma that can cause intracranial hypertension and ataxia.

Anesthetic implications: 

risk of airway  obstruction or difficult intubation in case of oropharyngeal tumors.

References : 

• Sharma D, Kim LJ, Ghodke B. 
  Successful airway management with combined use of Glidescope videolaryngoscope and fiberoptic bronchoscope in a patient with Cowden syndrome. 
  Anesthesiology 2010; 113: 253-5.
• Omote K, Kawamata T, Imaizumi H, Namiki A. 
  Case of Cowden’s disease that caused airway obstrcution during induction of anesthesia. 
  Anesthesiology 1999; 91: 1537-40.
• Tan T-C, Ho L-C. 
  Lhermitte-Duclos disease associated with Cowden syndrome. 
  J Clin Neurosc 2007 ; 14 : 801-5.

Updated: September 2019