A Case with Cowden Syndrome

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

TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY, vol.9, no.2, pp.92-95, 2015 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.4274/tdd.2009
  • Journal Name: TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.92-95
  • Keywords: 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 University Affiliated: Yes

Abstract

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.