Cowden syndrome presenting with trichilemmomas.
Cowden syndrome (CS) is a genetic cancerpredisposition syndrome that is associated withgermline mutations in the phosphate and tensinhomologue deleted on chromosome ten (PTEN)tumor suppressor gene. It is characterizedby the formation of benign and malignanttumors. Characteristic benign tumors includetrichilemmommas, acral keratoses, mucocutaneousneuromas, and oral papillomas. The most commonmalignant condition include breast, thyroid, andendometrial cancers. We present a case of a30-year-old woman with CS, who initially presentedwith trichilemmomas that were misdiagnosed ascomedonal acne. Recognition of the presentingfeatures of CS is important to ensure proper referral,management, and treatment for these patients.
Ronald O. Perelman Department of Dermatology, NYU School of Medicine, NYU Langone Medical Center.
Elise
E
Ng
Vitaly
V
Terushkin
Shane A
SA
Meehan
Roger
R
Ho
Miriam Keltz
MK
Pomeranz
D000328:Adult; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics / Q000628:therapy; D005153:Facial Neoplasms / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D051059:PTEN Phosphohydrolase / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D016606:Thyroid Nodule / Q000209:etiology / Q000235:genetics
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human