A Case with Cowden Syndrome


Parlak N., AKAY B. N., KUNDAKCI N.

TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY, cilt.9, sa.2, ss.92-95, 2015 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/tdd.2009
  • Dergi Adı: TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.92-95
  • Anahtar Kelimeler: Cowden syndrome, intestinal polyposis, macrocephaly, papilloma, PTEN mutation, hereditary cancer syndromes, HAMARTOMA-TUMOR-SYNDROME, SYNDROME PLEASE STAND, MULTIPLE HAMARTOMA, PTEN MUTATIONS, DISEASE, CANCER, WILL
  • Ankara Üniversitesi Adresli: Evet

Özet

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.