Cowden Syndrome (Multiple Hamartoma Syndrome) (Figure 2.22C) | 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 | | | | |
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