Jackie Bloor, a resident of Gravesend, Kent, UK, noticed a strange pimple on her face six years ago; She initially ignored it, thinking it was a milium, a harmless skin cyst common during pregnancy.

However, as time passed, Bloor became concerned when she noticed that the pimple not only persisted, but began to bleed and crust over, awakening her concern and leading her to seek medical attention, Newsweek reported on her case.

A medical examination revealed that the mark on her face was actually basal cell carcinoma (BCC), the most common type of skin cancer, caused by exposure to UV radiation from the sun or tanning beds that damages the DNA of basal cells.

Importance of early detection

Bloor emphasizes the need to consult a professional about any new skin blemishes, to avoid complications that could require more invasive treatment.

She said she was stunned when the grain moved forward. He then made an appointment with a doctor and, after removing it for a biopsy, his diagnosis of basal cell carcinoma was confirmed. "It was a little uncomfortable, but it was done quickly with local anesthesia and I had four stitches. It healed very well, I only had a small scar," he added.

"I recommend that any new brand be checked, especially if it bleeds. If left untreated, the cancer can spread to other areas and require more invasive surgery to remove it," he told Newsweek.

Additional symptoms

In addition to a non-healing sore, basal cell carcinoma may give subtle signs such as a pearly or shiny lump, a flat reddish or scaly area, a lesion that crusts or bleeds easily, and a hard, scar-like area. It may also appear as a lump with a small depression in the center or with visible blood vessels.

Signs that help detect it earlier

What to watch

These changes usually appear on sun-exposed areas, such as the face, neck, hands, and scalp, and are often painless at first. If a lesion does not improve within a few weeks, changes appearance or bleeds easily, it is advisable to check it out with a dermatologist.

Seek medical evaluation if you notice a new lesion, a wound that does not heal, or a persistent change in a mole, patch, or lump on the skin. Early detection greatly improves the chance of successful treatment.

Genetic factors

Genetic factors play an important role in predisposition to basal cell carcinoma, especially when there are hereditary syndromes or variants in Hedgehog pathway genes that alter the control of cell growth. In most cases, cancer appears due to sun exposure, but heredity can greatly increase the risk and advance the age of onset.

Genes involved. The most related gene is PTCH1, whose germline alteration causes basal cell nevus syndrome or Gorlin syndrome; PTCH2 and SUFU have also been associated in some cases. Somatic mutations in PTCH1 may also appear in sporadic basal cell carcinoma, which favor abnormal activation of the Hedgehog pathway and tumor proliferation.

Hereditary syndromes. The genetic predisposition is especially strong in basal cell nevus syndrome, an autosomal dominant condition with high penetrance and variable expressivity. These people can develop numerous basal cell carcinomas at an early age, in addition to other findings such as mandibular cysts, palmoplantar dimples, and bone abnormalities. Associations with BAP1 and MC1R have also been described, which may increase risk, although with a less decisive contribution than PTCH1.

Interaction with the environment. Genetics does not act alone: ​​ultraviolet radiation continues to be the main environmental factor, and is usually what “triggers” cancer in a susceptible terrain. In people with a hereditary predisposition, UV and other attacks can favor the second genetic “hit” that ends up inactivating tumor suppression. Therefore, family history, light skin, and a history of multiple early skin cancers are signs that suggest a genetic predisposition.

When to suspect it. A genetic component should be suspected if basal cell carcinoma appears at an early age, if there are multiple tumors, or if there is a family history of skin cancer or Gorlin syndrome. In these cases, dermatology evaluation and, in some patients, genetic study and family counseling are usually useful.

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