After a collection of tumors, lady’s odd-looking tongue explains all the things
Breast most cancers. Colon most cancers. An enlarged thyroid gland. A household historical past of tumors and cancers as nicely. It wasn’t till the lady developed an annoying case of dry mouth that medical doctors put all of it collectively. By then, she was in her 60s.
Based on a brand new case examine in JAMA Dermatology, the lady offered to a dermatology clinic in Spain after three months of oral unpleasantness. They famous the cancers in her medical historical past. When she opened huge, medical doctors instantly noticed the issue: Her tongue was lined in little wart-like bumps that resembled a slippery, flesh-colored cobblestone path. (Picture right here.)
Such a cobblestone tongue is a telltale signal of a uncommon genetic situation known as Cowden syndrome. It is brought on by inherited mutations that break a protein, known as PTEN, resulting in tumors and cancers.
PTEN, which stands for phosphatase and tensin homolog, usually helps hold cells from rising uncontrolled. Particularly, PTEN deactivates a signaling lipid known as PIP3 (phosphatidylinositol 3,4,5-trisphosphate), and that deactivation blocks a signaling pathway (the PI3K/AKT/mTOR pathway) concerned in regulating cell development, survival, and migration. When PTEN is damaged, PIP3 exercise ramps up, and tumors can develop unchecked.
Not-so-rare mutation
In Cowden syndrome, PTEN mutations result in noncancerous tumors or lots known as hamartomas, which might happen in any organ. However, folks with the syndrome are additionally at excessive danger of growing a slew of cancerous growths—mostly cancers of the breast, thyroid, and uterus—over their lifetime. That is why folks recognized with the situation are suggested to endure intensive most cancers screenings, together with annual ultrasounds of the thyroid beginning at age 7 and annual mammograms and MRIs (magnetic resonance imaging) beginning at age 30 on the newest.
