A Case with Cowden Syndrome
Author(s) -
Nehir Parlak,
Bengü Nisa Akay,
Nihal Kundakçı
Publication year - 2015
Publication title -
turkish journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.126
H-Index - 5
eISSN - 1308-5255
pISSN - 1307-7635
DOI - 10.4274/tdd.2009
Subject(s) - cowden syndrome , medicine , dermatology , pediatrics , biology , genetics , mutation , germline mutation , gene
Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome
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