عنوان

Cowden syndrome: clinical case and a brief review

شماره

LA0023k3x0

زبان متن نوشتاري يا گفتاري و مانند آن

انگلیسی

عنوان اصلي

Cowden syndrome: clinical case and a brief review

نام عام مواد

[Article]

نام نخستين پديدآور

Lopes, Sofia; Vide, Julia; Moreira, Elisabete; Azevedo, Filomena

متن يادداشت

Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Given the suspicion, genetic study was conducted and PTEN mutation was identified. Cowden syndrome affects 1:200,000 individuals. Mucocutaneous lesions are almost always present and there may be other typical features involving other organs, namely thyroid, colon, and brain. Mucocutaneous lesions may be the initial manifestation of this disorder and usually precede the onset of malignant lesions, making timely diagnosis essential for proper monitoring and screening.

تاريخ نشر

2017

عنوان

Dermatology Online Journal

شماره جلد

23/8

عنصر شناسه اي

Lopes, Sofia; Vide, Julia; Moreira, Elisabete; Azevedo, Filomena

نام الکترونيکي

نوع ماده

[Article]

کد کاربرگه

275578

سطح دسترسي

a

تكميل شده

Y