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Clinical Note |

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

Manish R. Sharma, MD; Elizabeth M. Petty, MD; Marci M. Lesperance, MD
Arch Otolaryngol Head Neck Surg. 2007;133(11):1157-1160. doi:10.1001/archotol.133.11.1157.
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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.

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Figure 1.

The patients described in cases 1 and 2. Frontal (A and C) and lateral (B and D) views. Note the common facial dysmorphic features, specifically macrocephaly with asymmetry, frontal bossing, and downslanting palpebral fissures.

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Figure 2.

Oropharyngeal photograph demonstrating papillomatous change of tonsils leading to airway obstruction in patient 2.

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