Pilomatrix carcinoma (PMC) is a rare, malignant tumor that arises from the hair follicle matrix cells. It is a subtype of skin cancer, also known as pilomatrical carcinoma, which accounts for less than 1% of all skin cancers. PMC is more common in middle-aged and elderly individuals, with a slight female predominance.
PMC often presents as a solitary, firm, and slow-growing mass, which can vary in size from a few millimeters to several centimeters. It can appear anywhere on the body, but it is most frequently found on the head, neck, and upper extremities. PMC can also cause ulceration, bleeding, and pain.
Causes
Possible causes of pilomatrix carcinoma and provide details about each of them.
- Genetics: There is some evidence to suggest that pilomatrix carcinoma may have a genetic component. Studies have shown that mutations in the CTNNB1 gene, which is involved in the Wnt signaling pathway, can lead to the development of this cancer.
- Exposure to radiation: Exposure to ionizing radiation, such as that used in radiation therapy, has been linked to an increased risk of pilomatrix carcinoma. This is because radiation can damage the DNA in cells, leading to mutations that can cause cancer.
- Immune suppression: People with weakened immune systems, such as those with HIV/AIDS or those who have undergone organ transplants and are taking immunosuppressive drugs, are at a higher risk of developing pilomatrix carcinoma.
- Age: Pilomatrix carcinoma is most commonly diagnosed in middle-aged and elderly individuals, with the average age of diagnosis being around 50 years old.
- Sex: Although pilomatrix carcinoma can occur in both males and females, studies have suggested that it may be slightly more common in males.
- Sun exposure: Chronic sun exposure has been linked to the development of various skin cancers, including pilomatrix carcinoma.
- Chemical exposure: Exposure to certain chemicals, such as arsenic or vinyl chloride, has been associated with an increased risk of developing pilomatrix carcinoma.
- Smoking: Smoking has been shown to increase the risk of various types of cancer, including skin cancer.
- Alcohol consumption: Heavy alcohol consumption has been linked to an increased risk of various types of cancer, including skin cancer.
- Obesity: Obesity has been linked to an increased risk of various types of cancer, including skin cancer.
- Hormonal changes: Hormonal changes, such as those that occur during pregnancy or menopause, have been linked to an increased risk of pilomatrix carcinoma.
- Chronic inflammation: Chronic inflammation has been linked to an increased risk of various types of cancer, including skin cancer.
- Infection: Certain types of infections, such as human papillomavirus (HPV), have been linked to an increased risk of skin cancer.
- Family history: Individuals with a family history of skin cancer or other types of cancer may be at an increased risk of developing pilomatrix carcinoma.
- Skin type: People with fair skin, red or blonde hair, and light-colored eyes are more susceptible to sun damage and have an increased risk of skin cancer.
- Pre-existing skin conditions: People with certain pre-existing skin conditions, such as basal cell nevus syndrome or xeroderma pigmentosum, may be at an increased risk of developing pilomatrix carcinoma.
- Chronic wounds: Chronic wounds, such as pressure ulcers or venous leg ulcers, can increase the risk of developing skin cancer.
- Exposure to viruses: Exposure to certain viruses, such as human immunodeficiency virus (HIV), has been linked to an increased risk of skin cancer.
- Medications: Certain medications, such as immunosuppressive drugs or chemotherapy drugs, can increase the risk of developing skin cancer.
- Prior history of skin cancer: People who have previously had skin cancer are at an increased risk of developing pilomatrix carcinoma.
Symptoms
Symptoms of pilomatrix carcinoma in detail.
- Firm, painless, slow-growing mass: Pilomatrix carcinoma usually presents as a firm, painless, and slow-growing mass on the skin. The tumor is usually located on the head, neck, or upper extremities, but it can occur anywhere on the body.
- Irregular shape: The shape of the tumor is irregular, and it can be lobulated or nodular. The tumor is usually attached to the skin, and it can be mobile or fixed.
- Skin ulceration: Pilomatrix carcinoma can cause skin ulceration, which is the loss of skin tissue. Skin ulceration can occur due to the tumor’s growth and pressure on the surrounding tissue.
- Bleeding: The tumor can cause bleeding due to its growth and ulceration. Bleeding can also occur due to trauma or injury to the tumor.
- Oozing: Pilomatrix carcinoma can cause oozing of fluid or pus from the skin. Oozing can occur due to ulceration and infection of the tumor.
- Crusting: The tumor can cause crusting of the skin. Crusting can occur due to the accumulation of fluid and dead cells on the surface of the tumor.
- Pain: Pilomatrix carcinoma can cause pain in rare cases. Pain can occur due to the tumor’s growth and pressure on the surrounding tissue.
- Itching: The tumor can cause itching, which is an unpleasant sensation that triggers the desire to scratch. Itching can occur due to the inflammation of the skin around the tumor.
- Redness: Pilomatrix carcinoma can cause redness of the skin around the tumor. Redness can occur due to inflammation and irritation of the skin.
- Swelling: The tumor can cause swelling of the skin around the tumor. Swelling can occur due to inflammation and fluid accumulation in the tissue.
- Enlargement of lymph nodes: Pilomatrix carcinoma can cause enlargement of the nearby lymph nodes. Enlargement of lymph nodes can occur due to the spread of cancer cells to the lymph nodes.
- Skin discoloration: Pilomatrix carcinoma can cause skin discoloration around the tumor. Skin discoloration can occur due to the accumulation of blood and other fluids in the tissue.
- Numbness: The tumor can cause numbness, which is the loss of sensation in the skin around the tumor. Numbness can occur due to the compression of nerves by the tumor.
- Tingling: Pilomatrix carcinoma can cause tingling, which is a sensation of pins and needles in the skin around the tumor. Tingling can occur due to the compression of nerves by the tumor.
- Muscle weakness: The tumor can cause muscle weakness in rare cases. Muscle weakness can occur due to the compression of nerves that control the muscles.
- Difficulty moving: Pilomatrix carcinoma can cause difficulty moving in rare cases. Difficulty moving can occur due to the compression of nerves that control the movement of limbs.
- Difficulty swallowing: Pilomatrix carcinoma can cause difficulty swallowing in rare cases. Difficulty swallowing can occur due to the compression of nerves that control the swallowing muscles.
- Hoarseness: Pilomatrix carcinoma can cause hoarseness in rare cases.
Diagnosis
Diagnosing pilomatrix carcinoma requires a combination of clinical, histopathological, and imaging tests. Here are diagnostic tools and tests that are commonly used in the evaluation and management of pilomatrix carcinoma:
- Physical examination: A comprehensive physical examination is the first step in diagnosing pilomatrix carcinoma. A dermatologist or oncologist will inspect the skin lesion for size, color, texture, and mobility.
- Biopsy: A skin biopsy is the gold standard for diagnosing pilomatrix carcinoma. A sample of tissue is taken from the lesion and sent to a pathologist for analysis under a microscope.
- Histopathology: Histopathology involves the microscopic examination of tissue samples to identify abnormal or cancerous cells. Pilomatrix carcinoma is characterized by the presence of basaloid cells, keratinization, and calcification.
- Immunohistochemistry: Immunohistochemistry involves the use of antibodies to detect specific proteins in tissue samples. In the case of pilomatrix carcinoma, immunohistochemistry can be used to identify markers such as CK20, p63, and beta-catenin.
- Fine-needle aspiration biopsy: Fine-needle aspiration biopsy involves the insertion of a thin needle into the lesion to extract a small sample of cells. This test can help differentiate pilomatrix carcinoma from other skin lesions.
- Ultrasound: Ultrasound imaging uses high-frequency sound waves to create images of the skin lesion and surrounding tissues. Ultrasound can help determine the size, location, and depth of the lesion.
- Computed tomography (CT) scan: CT scan uses X-rays and computer technology to create detailed images of the body’s internal structures. CT scans can help detect the presence of lymph node or distant metastases.
- Magnetic resonance imaging (MRI): MRI uses magnetic fields and radio waves to create detailed images of the body’s internal structures. MRI can help determine the extent of the lesion and detect surrounding tissue invasion.
- Positron emission tomography (PET) scan: PET scan involves the injection of a radioactive tracer that can detect metabolic activity in cancer cells. PET scan can help detect the spread of pilomatrix carcinoma to other parts of the body.
- Sentinel lymph node biopsy: Sentinel lymph node biopsy involves the injection of a dye or radioactive tracer into the skin lesion to identify the lymph node that drains the area. This lymph node is then removed and examined for the presence of cancer cells.
- Complete blood count (CBC): CBC is a blood test that measures the number of red blood cells, white blood cells, and platelets in the blood. CBC can help detect anemia, leukocytosis, or thrombocytosis, which may be associated with cancer.
- Liver function tests: Liver function tests are blood tests that measure the levels of enzymes and other substances produced by the liver. Abnormal liver function tests may indicate the presence of liver metastases.
- Electrolyte panel: An electrolyte panel is a blood test that measures the levels of electrolytes such as sodium, potassium, and chloride in the blood. Abnormal electrolyte levels may indicate dehydration or other metabolic imbalances.
- C-reactive protein (CRP) test: CRP is a blood test that measures the levels of a protein produced by the liver in response to inflammation
Treatment
The treatment of pilomatrix carcinoma depends on various factors such as the location, size, stage, and histological features of the tumor, as well as the patient’s age and overall health. In this article, we will discuss the treatments for pilomatrix carcinoma and explain their details.
- Surgical excision: The most effective treatment for pilomatrix carcinoma is surgical excision, which involves removing the tumor and a margin of normal tissue around it. The extent of surgical excision depends on the size and location of the tumor.
- Mohs micrographic surgery: Mohs micrographic surgery is a specialized surgical technique that involves removing the tumor in layers and examining each layer under a microscope until no cancer cells are found.
- Wide local excision: Wide local excision involves removing the tumor and a margin of normal tissue around it in a single procedure. This technique is usually used for tumors that are small and located in non-critical areas.
- Radiation therapy: Radiation therapy involves using high-energy radiation to kill cancer cells. It may be used as a primary treatment for small tumors or as an adjuvant therapy after surgery.
- Chemotherapy: Chemotherapy involves using drugs to kill cancer cells. It may be used as a primary treatment for advanced or metastatic tumors or as an adjuvant therapy after surgery.
- Immunotherapy: Immunotherapy involves using drugs to stimulate the immune system to recognize and destroy cancer cells. It may be used as a primary treatment for advanced or metastatic tumors or as an adjuvant therapy after surgery.
- Cryotherapy: Cryotherapy involves freezing the tumor with liquid nitrogen. It may be used as a primary treatment for small tumors or as a palliative therapy to relieve symptoms.
- Electrochemotherapy: Electrochemotherapy involves applying electric pulses to the tumor after it has been injected with chemotherapy drugs. This technique enhances the uptake of the chemotherapy drugs by the cancer cells.
- Photodynamic therapy: Photodynamic therapy involves using a photosensitizing agent that is activated by light to destroy cancer cells. It may be used as a primary treatment for small tumors or as a palliative therapy to relieve symptoms.
- Laser therapy: Laser therapy involves using a laser to destroy the tumor. It may be used as a primary treatment for small tumors or as a palliative therapy to relieve symptoms.
- Topical therapy: Topical therapy involves applying a cream or ointment to the tumor. It may be used as a primary treatment for small tumors or as a palliative therapy to relieve symptoms.
- Intralesional therapy: Intralesional therapy involves injecting a drug directly into the tumor. It may be used as a primary treatment for small tumors or as a palliative therapy to relieve symptoms.
- Radiofrequency ablation: Radiofrequency ablation involves using high-frequency electrical currents to destroy the tumor. It may be used as a primary treatment for small tumors or as a palliative therapy to relieve symptoms.
- High-intensity focused ultrasound (HIFU): HIFU involves using high-intensity ultrasound waves to destroy the tumor. It may be used as a primary treatment for small tumors or as a palliative therapy to relieve symptoms.
- Targeted therapy: Targeted therapy involves using drugs that specifically target the cancer cells based on their molecular characteristics. It may be used as a primary treatment for advanced or metastatic tumors or as an adjuvant therapy after surgery.
Medications
Drugs used in the management of this condition.
- Methotrexate: Methotrexate is a chemotherapy drug that works by interfering with the growth and division of cancer cells. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- 5-fluorouracil: 5-fluorouracil is another chemotherapy drug that works by interfering with the DNA synthesis of cancer cells. It is often used topically to treat early-stage pilomatrix carcinoma.
- Carboplatin: Carboplatin is a chemotherapy drug that is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Cisplatin: Cisplatin is a chemotherapy drug that works by interfering with the DNA synthesis of cancer cells. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Doxorubicin: Doxorubicin is a chemotherapy drug that works by interfering with the DNA synthesis of cancer cells. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Paclitaxel: Paclitaxel is a chemotherapy drug that works by interfering with the microtubules of cancer cells, preventing them from dividing. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Vinblastine: Vinblastine is a chemotherapy drug that works by interfering with the microtubules of cancer cells, preventing them from dividing. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Vincristine: Vincristine is a chemotherapy drug that works by interfering with the microtubules of cancer cells, preventing them from dividing. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Imiquimod: Imiquimod is a topical medication that stimulates the immune system to attack cancer cells. It is often used to treat early-stage pilomatrix carcinoma.
- Interferon alpha-2b: Interferon alpha-2b is a medication that stimulates the immune system to attack cancer cells. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Interleukin-2: Interleukin-2 is a medication that stimulates the immune system to attack cancer cells. It is often used in combination with other chemotherapy drugs to treat advanced pilomatrix carcinoma.
- Sorafenib: Sorafenib is a targeted therapy drug that works by blocking the growth of blood vessels that supply nutrients to cancer cells. It is often used to treat advanced pilomatrix carcinoma that has spread to other parts of the body.
- Sunitinib: Sunitinib is a targeted therapy drug that works by blocking the growth of blood vessels that supply nutrients to cancer cells. It is often used to treat advanced pilomatrix carcinoma that has spread to other parts of the body.
- Everolimus: Everolimus is a targeted therapy drug that works by inhibiting a protein that is involved in the growth and division of cancer cells.
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