INSUBCONTINENT EXCLUSIVE:
An enlarged thyroid gland
A family history of tumors and cancers as well
It wasn't until the woman developed an annoying case of dry mouth that doctors put it all together
By then, she was in her 60s.According to a new case study in JAMA Dermatology, the woman presented to a dermatology clinic in Spain after
three months of oral unpleasantness
They noted the cancers in her medical history
When she opened wide, doctors immediately saw the problem: Her tongue was covered in little wart-like bumps that resembled a slippery,
flesh-colored cobblestone path
(Image here.)Such a cobblestone tongue is a telltale sign of a rare genetic condition called Cowden syndrome
It's caused by inherited mutations that break a protein, called PTEN, leading to tumors and cancers.PTEN, which stands for phosphatase and
tensin homolog, generally helps keep cells from growing out of control
Specifically, PTEN deactivates a signaling lipid called PIP3 (phosphatidylinositol 3,4,5-trisphosphate), and that deactivation blocks a
signaling pathway (the PI3K/AKT/mTOR pathway) involved in regulating cell growth, survival, and migration
When PTEN is broken, PIP3 activity ramps up, and tumors can grow unchecked.In Cowden syndrome, PTEN mutations lead to noncancerous tumors or
masses called hamartomas, which can occur in any organ
That's why people diagnosed with the condition are advised to undergo intensive cancer screenings, including annual ultrasounds of the
thyroid starting at age 7 and annual mammograms and MRIs (magnetic resonance imaging) starting at age 30 at the latest.
