Cowden Syndrome (Multiple Hamartoma Syndrome)

(Figure 2.22C)
  • Figure 2.22 A: Angioflbromas in TS (Courtesy of Dr. Michelle B. Bain) B: Koenen tumor in TS (Courtesy of Dr. Paul Getz) C: Cowden syndrome (Reprint from Morgan MB, Smoller BR, Somach SC. Deadly Dermatologic Diseases. New York, NY: Springer; 2007)
    Figure 2.22
    A: Angiofibromas in TS
    (Courtesy of Dr. Michelle
    B. Bain
    )
    B: Koenen tumor in TS
    (Courtesy of Dr. Paul Getz)
    C: Cowden syndrome
    (Reprint from Morgan MB,
    Smoller BR, Somach SC.
    Deadly Dermatologic Diseases.
    New York, NY: Springer; 2007
    )
    AD, PTEN gene mutation, encodes tyrosine phosphatase protein, mutation causes cell proliferation
  • Trichilemmomas (smooth to verrucous small papules on face), “cobblestone” appearance of the mucosa including tongue (oral papillomas), acral keratotic papules
  • ↑ Breast fibroadenoma, ↑ CA: breast, thyroid follicular; GI polyps
   
 
COWden – trichileMOOmas; other PTEN syndromes: Lhermitte–Duclos and
Bannayan–Zonana syndrome