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Clinical Note
November 2007

Airway Obstruction Caused by PTEN Hamartoma (Bannayan-Riley-Ruvalcaba) Syndrome

Author Affiliations

Copyright 2007 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2007

Arch Otolaryngol Head Neck Surg. 2007;133(11):1157-1160. doi:10.1001/archotol.133.11.1157

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare, autosomal dominant condition characterized by macrocephaly, benign hamartomatous tumors, pigmented penile macules, lipomas, hemangiomas, and cognitive deficits. We report the cases of a father and son with clinical features of BRRS with airway obstruction secondary to pharyngeal papillomas. Both had identical mutations in the PTEN (phosphatase and tensin homologue deleted on chromosome TEN) tumor suppressor gene. The father developed refractory papillary lymphoid hyperplasia of the oropharynx and hypopharynx and has been tracheotomy dependent for more than 10 years, whereas the son's obstructive sleep apnea resolved after adenotonsillectomy. To our knowledge, this is the first report of BRRS tumors causing airway obstruction that required surgical intervention. Recognition of this condition by the otolaryngologist–head and neck surgeon and referral to a geneticist is important to allow diagnosis and facilitate aggressive cancer surveillance.