Issue N# 3 - 2018
GENETIC
Cowden syndrome: Otolaryngology approach
Authors : Ahumada F, Encinas A, Sánchez A, Villacampa JM, Cenjor C. (Casablanca)
Ref. : Rev Laryngol Otol Rhinol. 2018;139,3:59-61.
Article published in english 
Downloadable PDF document english
Summary :
Background: Cowden syndrome (CS) is a rare autosomal dominant genodermatosis. Inheritance with variable expression that is at increased risk of breast, thyroid, endometrial, and renal cancers. Case report: Patient with pharyngeal involvement, with previous clinical and genetic diagnosis of Cowden syndrome. Nasofibrolaryngoscopy revealed multiple pharyngeal masses confirmed by MRI. Excision surgery was performed and malignancy was not observed in the pathological study. Results: This treatment was effective decreasing size of the bulky lesions. Conclusion: We believe head and neck surgeons need to balance their decisions between individual risk assessment, potential psychological benefits and accepted guidelines. We believe that need more studies describing the head and neck manifestations on this rare syndrome.
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