A woman's strange-looking tongue explains everything after a string of cancers.

 A woman's strange-looking tongue explains everything after a string of cancers.

carcinoma of the breast. carcinoma of the colon. a thyroid gland that is swollen. a history of cancer and tumors in the family. Doctors didn't figure it all out until the woman started having a bothersome case of dry mouth. She was in her 60s by then.

After experiencing mouth discomfort for three months, the woman went to a dermatological clinic in Spain, according a recent case study published in JAMA dermatological. In her medical history, they made note of the cancers. Doctors recognized the issue as soon as she opened wide: Her tongue was covered in tiny, wart-like bumps that looked like a slippery, flesh-colored cobblestone path. (See image here.)



Such a cobblestone tongue is indicative of Cowden syndrome, a rare genetic disorder. It is brought on by hereditary protein-breaking mutations.

Such a cobblestone tongue is indicative of Cowden syndrome, a rare genetic disorder. Tumors and malignancies are brought on by hereditary abnormalities that disrupt a protein known as PTEN.

Phosphatase and tensin homolog, or PTEN, typically aids in preventing unchecked cell growth. PTEN specifically deactivates a signaling lipid known as PIP3 (phosphatidylinositol 3,4,5-trisphosphate), which in turn inhibits the PI3K/AKT/mTOR pathway, a signaling system essential in controlling cell migration, growth, and survival. PIP3 activity increases when PTEN is disrupted, allowing tumors to proliferate unrestrained.

Not-so-rare mutation:

Any organ may develop hamartomas, which are noncancerous tumors or masses caused by PTEN mutations in Cowden syndrome.  However, during the course of their lives, those who have the syndrome are also at a significant risk of having a variety of malignant growths, most frequently malignancies of the breast, thyroid, and uterine.  People with the illness are therefore encouraged to have extensive cancer screenings, which include yearly thyroid ultrasounds beginning at age 7 and yearly mammograms and magnetic resonance imaging (MRI) beginning at age 30 at the latest.

Most people with Cowden syndrome discover the autosomal dominant illness in their teens or twenties, even if they are unaware that it runs in their family. Small masses on the skin or mucous membranes, usually in the mouth and especially on the tongue, are the typical first signs of Cowden syndrome. These lumps of skin and mucous membranes first appear in the second or third decade of life in about 80% of cases. The Spanish woman, however, didn't appear to have tongue issues until she was in her 60s, which would have contributed to her doctors' delayed diagnosis.

Cowden syndrome is also uncommon. Cowden syndrome was initially discovered in the 1960s, and according to researchers, it affects roughly 1 in 200,000 people. Although the hereditary disorder is uncommon, PTEN mutations in malignancies in general are not. Additionally, PTEN mutations might happen infrequently, which means they are not inherited. All things considered, PTEN mutations rank among the most prevalent mutations in sporadic malignancies. Melanoma and malignancies of the pancreatic, prostate, and lung are frequently caused by sporadic PTEN mutations.

The patient in Spain was diagnosed with Cowden syndrome after genetic testing revealed that she had a PTEN mutation. Unfortunately, there is no specific cure for the genetic disorder, which affects her and other people. Non-cancerous masses can be treated with laser treatments and surgery, and some medications that block the mTOR pathway have shown some success. Nonetheless, a group of medical professionals oversees the situation and closely monitors and treats any potential tumors or malignancies.

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