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Basal Cell Carcinoma

Disease Details

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Description: Basal cell carcinoma is a type of skin cancer that arises from the basal cells in the epidermis, often due to prolonged sun exposure.
Type: Basal cell carcinoma is a type of skin cancer. Its genetic transmission is typically sporadic, but in some rare cases, it can be hereditary, as seen in conditions like Basal Cell Nevus Syndrome (Gorlin syndrome).
Signs And Symptoms: Individuals with a basal-cell carcinoma typically present with a shiny, pearly skin nodule. However, superficial basal-cell cancer can present as a red patch similar to eczema. Infiltrative or morpheaform basal-cell cancers can present as a skin thickening or scar tissue – making diagnosis difficult without using tactile sensation and a skin biopsy. It is often difficult to visually distinguish basal-cell cancer from acne scar, actinic elastosis, and recent cryodestruction inflammation.
Prognosis: Prognosis is excellent if the appropriate method of treatment is used in early primary basal-cell cancers. Recurrent cancers are much harder to cure, with a higher recurrence rate with any methods of treatment. Although basal-cell carcinoma rarely metastasizes, it grows locally with invasion and destruction of local tissues. The cancer can impinge on vital structures like nerves and result in loss of sensation or loss of function or rarely death. The vast majority of cases can be successfully treated before serious complications occur. The recurrence rate for the above treatment options ranges from 50 percent to 1 percent or less.
Onset: Basal cell carcinoma (BCC) typically develops after years of repeated exposure to ultraviolet (UV) radiation from the sun or tanning beds. It often appears in older adults, most commonly those over the age of 50, though it can develop in younger individuals with extensive UV exposure or genetic predispositions. Nan (Not Applicable).
Prevalence: Basal cell carcinoma (BCC) is the most common type of skin cancer, accounting for about 80% of non-melanoma skin cancers. It predominantly affects individuals with fair skin and those with significant sun exposure. The prevalence of BCC increases with age, and while it rarely spreads to other parts of the body, it can cause significant local tissue damage if not treated.
Epidemiology: Basal-cell cancer is a very common skin cancer. It is much more common in fair-skinned individuals with a family history of basal-cell cancer and increases in incidence closer to the equator or at higher altitude. It is very common among elderly people over the age of 80. There are approximately 800,000 new cases yearly in the United States alone. Up to 30% of white people develop basal-cell carcinomas in their lifetime. In Canada, the most common skin cancer is basal-cell carcinoma (as much as one third of all cancer diagnoses), affecting 1 in 7 individuals over a lifetime.In the United States, approximately 3 out of 10 Caucasian people develop a basal-cell carcinoma during their lifetime. This tumor accounts for approximately 70% of non-melanoma skin cancers. In 80 percent of all cases, basal-cell carcinoma affects head or neck skin.Most sporadic BCC arises in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected. The development of multiple basal-cell cancer at an early age could be indicative of nevoid basal-cell carcinoma syndrome, also known as Gorlin syndrome.
Intractability: Basal cell carcinoma (BCC) is generally not considered intractable. It is the most common form of skin cancer and is typically highly treatable, especially when detected early. Most cases are localized and do not metastasize. Treatment options such as surgical excision, Mohs surgery, cryotherapy, and topical medications are often effective. However, recurrent BCC or cases in challenging locations can sometimes be more difficult to treat.
Disease Severity: Basal cell carcinoma (BCC) is generally considered a low-grade, slow-growing skin cancer. It has a high cure rate and rarely metastasizes. Though BCC might cause significant local tissue damage if left untreated, it is typically less aggressive compared to other skin cancers like melanoma or squamous cell carcinoma. Prompt treatment often leads to favorable outcomes.
Healthcare Professionals: Disease Ontology ID - DOID:2513
Pathophysiology: Basal-cell carcinoma is named after the basal cells that populate the lowest layer of the epidermis due to the histological appearance of the cancer cells under the microscope. Nevertheless, not all basal-cell carcinomas actually originate within the basal layer. Basal-cell carcinomas are thought to develop from the folliculo–sebaceous–apocrine germinative cells known as trichoblasts. Trichoblastic carcinoma is a term used to describe a rare and potentially aggressive malignancy that is also thought to arise from trichoblasts and may resemble a benign trichoblastoma (differential diagnosis can be challenging). It has been suggested that lesions diagnosed as 'trichoblastic carcinoma' may actually themselves be basal-cell carcinoma.Overexposure to sun leads to the formation of thymine dimers, a form of DNA damage. While DNA repair removes most UV-induced damage, not all crosslinks are excised. There is, therefore, cumulative DNA damage leading to mutations. Apart from the mutagenesis, overexposure to sunlight depresses the local immune system, possibly decreasing immune surveillance for new tumor cells.
Basal-cell carcinomas can often come in association with other lesions of the skin, such as actinic keratosis, seborrheic keratosis, and squamous cell carcinoma. In a small proportion of cases, basal-cell carcinoma also develops as a result of basal-cell nevus syndrome, or Gorlin Syndrome, which is also characterized by keratocystic odontogenic tumors of the jaw, palmar or plantar (sole of the foot) pits, calcification of the falx cerebri (in the center line of the brain) and rib abnormalities. The cause of this syndrome is a mutation in the PTCH1 tumor suppressor gene located in chromosome 9q22.3, which inhibits the hedgehog signaling pathway. A mutation in the SMO gene, which is also on the hedgehog pathway, also causes basal-cell carcinoma.
Carrier Status: Basal cell carcinoma does not have a carrier status. It is primarily caused by prolonged exposure to ultraviolet (UV) radiation from the sun or tanning beds, not by genetic mutations passed from parent to child. However, genetic predisposition and certain hereditary syndromes, like Gorlin-Goltz syndrome, can increase the risk.
Mechanism: Basal cell carcinoma (BCC) is the most common type of skin cancer. It arises from the basal cells in the epidermis.

### Mechanism:
BCC typically develops due to DNA damage in the skin cells, often caused by ultraviolet (UV) radiation from sun exposure or tanning beds. This DNA damage leads to uncontrolled growth of basal cells, forming a cancerous lesion.

### Molecular Mechanisms:
1. **Hedgehog Signaling Pathway**: The Hedgehog (HH) signaling pathway plays a crucial role in the pathogenesis of BCC. Mutations in components of this pathway, such as patched-1 (PTCH1) and smoothened (SMO), lead to its constitutive activation. PTCH1 mutations prevent the inhibition of SMO, resulting in continuous activation of downstream signaling and cell proliferation.

2. **p53 Tumor Suppressor Gene**: Mutations in the p53 tumor suppressor gene are also frequently observed in BCC. p53 is a critical regulator of the cell cycle and apoptosis. When p53 is mutated, cells with DNA damage escape normal regulatory mechanisms, leading to their survival and unchecked division.

3. **RAS-RAF-MEK-ERK Pathway**: Though less common, mutations in the RAS-RAF-MEK-ERK pathway can also contribute to BCC. This pathway controls cellular proliferation and survival, and its aberrant activation can support the growth of cancer cells.

Understanding these molecular mechanisms is essential for the development of targeted therapies for BCC, such as inhibitors of the Hedgehog pathway like vismodegib and sonidegib.
Treatment: The following methods are employed in the treatment of basal-cell carcinoma (BCC):
Compassionate Use Treatment: Compassionate use treatment and off-label or experimental treatments for basal cell carcinoma (BCC) generally include options that are pursued when standard therapies are not effective or suitable.

1. **Compassionate Use Treatment:**
- **Hedgehog Pathway Inhibitors:** Drugs like vismodegib (Erivedge) and sonidegib (Odomzo) are approved for advanced BCC but can be used under compassionate use protocols for patients who cannot undergo surgery or radiation, and for whom other treatments haven't worked.

2. **Off-label Treatments:**
- **Topical Imiquimod (Aldara):** Although it's FDA-approved for superficial BCC, some physicians might use it off-label for other forms or less accessible BCCs.
- **Photodynamic Therapy (PDT):** This can be used for BCC cases not officially covered by guidelines but deemed suitable by the treating physician.

3. **Experimental Treatments:**
- **Immunotherapy:** Early-stage research is exploring the use of immunotherapy agents like pembrolizumab (Keytruda) for its effects on advanced BCC, particularly those resistant to other treatments.
- **Targeted Therapies:** Ongoing clinical trials are investigating new inhibitors and combinations of existing drugs targeting specific pathways involved in BCC development and progression.

These treatments reflect emerging approaches and the ongoing search for more effective and versatile therapies for basal cell carcinoma beyond the conventional strategies.
Lifestyle Recommendations: To manage and reduce the risk of basal cell carcinoma, consider the following lifestyle recommendations:

1. **Sun Protection**: Avoid excessive sun exposure, especially during peak hours (10 AM to 4 PM). Use broad-spectrum sunscreen with an SPF of 30 or higher, wear protective clothing, wide-brimmed hats, and UV-blocking sunglasses.

2. **Regular Skin Checks**: Perform regular self-examinations to monitor for new or changing skin lesions. Schedule annual skin checks with a dermatologist for professional assessment.

3. **Avoid Tanning Beds**: Steer clear of tanning salons and artificial UV light sources, as they can significantly increase the risk of skin cancer.

4. **Healthy Diet and Hydration**: Maintain a balanced diet rich in antioxidants (found in fruits and vegetables) to support skin health. Stay well-hydrated to keep skin healthy.

5. **Avoid Smoking**: Refrain from smoking, as it can damage the skin and may increase cancer risk.

6. **Seek Prompt Treatment**: If you notice any suspicious skin changes, seek medical evaluation and treatment promptly to prevent complications.

Adopting these measures can help minimize the risk and manage basal cell carcinoma effectively.
Medication: For basal cell carcinoma, medication treatments can include the use of topical creams like imiquimod or fluorouracil for superficial cases. Oral medications, such as vismodegib and sonidegib, which are hedgehog pathway inhibitors, may be used for advanced or metastatic cases of basal cell carcinoma. Always consult a healthcare provider for a treatment plan tailored to individual cases.
Repurposable Drugs: Repurposable drugs for basal cell carcinoma include:

1. **Itraconazole**: Originally an antifungal medication, itraconazole has shown potential in inhibiting the Hedgehog signaling pathway, which is often implicated in basal cell carcinoma.
2. **Celecoxib**: A nonsteroidal anti-inflammatory drug (NSAID) primarily used for pain relief, celecoxib has been investigated for its potential anti-cancer properties, including for basal cell carcinoma, through the inhibition of cyclooxygenase-2 (COX-2).
3. **Metformin**: Commonly used for type 2 diabetes, metformin has demonstrated potential anticancer effects, including on basal cell carcinoma, possibly through mechanisms involving AMP-activated protein kinase (AMPK) and mTOR pathways.
Metabolites: In the context of basal cell carcinoma (BCC), there is limited specific information on unique metabolites that are consistently associated with the disease. BCC is a type of skin cancer that is primarily linked to DNA damage from ultraviolet (UV) radiation exposure rather than specific metabolic abnormalities. However, general markers of cancer metabolism, such as lactate, glucose, and various amino acids, may show alterations due to the rapid cell proliferation associated with tumors. Specific metabolic profiling for BCC is an ongoing area of research, and no definitive metabolite signatures have been universally established or employed in clinical practice as of now.
Nutraceuticals: There is limited evidence supporting the effectiveness of nutraceuticals for basal cell carcinoma (BCC). While some studies suggest that certain dietary supplements or natural compounds may have potential benefits in skin cancer prevention or adjunctive therapy, these are not standard treatments. Commonly investigated compounds include antioxidants such as vitamins C and E, selenium, and polyphenols. However, standard treatment for BCC typically involves surgical procedures, topical therapies, or radiation. Always consult a healthcare provider for appropriate diagnosis and treatment options.
Peptides: Basal cell carcinoma (BCC) is a type of skin cancer. In regards to treatment involving peptides or nanotechnology, there have been emerging studies and clinical trials exploring these areas for improved targeting and efficacy. Peptide-based approaches may involve using peptides to deliver drugs directly to cancer cells or to stimulate an immune response. Nanotechnology can enable the delivery of therapeutic agents, including chemotherapeutic drugs or photosensitizers, directly to the tumor site, potentially reducing side effects and increasing treatment effectiveness. However, these methods are still largely in experimental stages and not yet standard practice.