Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.

Citations

Citations to this article as recorded by  

• Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions—A Comprehensive Review with Clinical and Laboratory Guidelines
  Andrzej Kluk, Hanna Gryczka, Małgorzata Braszka, Rafał Ałtyn, Hanna Markiewicz, Jan K. Ślężak, Ewa Dwojak, Joanna Czerniak, Paweł Zieliński, Bartosz J. Płachno, Paula Dobosz
  International Journal of Molecular Sciences.2026; 27(3): 1304.     CrossRef
• Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity
  Marcus S Rossi, Jessica P Sejo, Allison Kirchner, Maria Tsoukas
  Cureus.2024;[Epub]     CrossRef
• Cowden Syndrome: A Review
  Ye-Ryeong Jung, Ji-Young Jun, Seeyoun Lee, Kum Hei Ryu, Dong Ock Lee, Yoon-Jung Chang, So-Youn Jung, Sun-Young Kong
  Laboratory Medicine Online.2023; 13(3): 165.     CrossRef
• Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review
  Giovanni Innella, Sara Miccoli, Dora Colussi, Laura Maria Pradella, Laura Benedetta Amato, Roberta Zuntini, Nunzio Cosimo Mario Salfi, Guido Collina, Francesco Ferrara, Luigi Ricciardiello, Daniela Turchetti
  Pathology - Research and Practice.2021; 218: 153339.     CrossRef
• Clinical manifestations of gastrointestinal diseases in the oral cavity
  Mohammad S. Al-Zahrani, Ahmed A. Alhassani, Khalid H. Zawawi
  The Saudi Dental Journal.2021; 33(8): 835.     CrossRef
• Hereditary Cancer Syndromes and Risk Assessment
  
  Obstetrics & Gynecology.2019; 134(6): e143.     CrossRef
• Syndrome In Question
  Gabriela Maldonado, Juliano Peruzzo, Mariana Quirino Tubone, Clarissa Prieto Herman Reinehr, Gabriela Fortes Escobar
  Anais Brasileiros de Dermatologia.2015; 90(1): 131.     CrossRef