Pilomatrixoma

Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a rare benign skin tumor originating from hair matrix cells. It is a slow-growing, hard, nodular lesion that typically appears as a small, painless bump under the skin. The tumor is most commonly found on the head and neck, but can also occur on the trunk and extremities.

There are several different types of pilomatrixoma, each with unique characteristics and clinical presentations. Some of the most commonly recognized types of pilomatrixoma include:

  1. Classic Pilomatrixoma: This is the most common type of pilomatrixoma and is characterized by a well-defined, firm, subcutaneous nodule that is usually less than 2 cm in diameter. Classic pilomatrixomas are often asymptomatic and are usually found incidentally during a routine physical examination.
  2. Giant Pilomatrixoma: This type of pilomatrixoma is characterized by a larger size, typically greater than 2 cm in diameter. Giant pilomatrixomas are more likely to cause symptoms, such as pain, tenderness, and redness, due to their size and location.
  3. Multiple Pilomatrixoma: This type of pilomatrixoma is characterized by the presence of multiple tumors, typically distributed symmetrically on the head and neck. Multiple pilomatrixomas are often associated with syndromes, such as Brooke-Spiegler syndrome, which is an autosomal dominant disorder characterized by multiple pilomatrixomas and spiradenomas.
  4. Recurrent Pilomatrixoma: This type of pilomatrixoma is characterized by the presence of multiple tumors that have recurred after previous surgical excision. Recurrent pilomatrixomas are often more difficult to treat and may require more extensive surgical intervention.
  5. Pilomatrixoma with Squamous Metaplasia: This type of pilomatrixoma is characterized by the presence of squamous metaplasia, or the transformation of normal hair matrix cells into squamous epithelial cells. Pilomatrixomas with squamous metaplasia are more likely to be malignant and may require more aggressive treatment.

Causes

The exact cause of pilomatrixoma is not well understood, but there are a number of factors that have been associated with its development. Here are possible causes for pilomatrixoma:

  1. Genetics: Pilomatrixoma has been shown to have a hereditary component, with several families reported to have multiple members affected by the condition.
  2. Abnormal hair matrix cells: The hair matrix is the region of the hair follicle that produces new hair cells. Abnormalities in this region can lead to the formation of pilomatrixomas.
  3. Abnormal differentiation of hair matrix cells: Pilomatrixomas are believed to develop from hair matrix cells that have undergone abnormal differentiation, leading to their abnormal growth and proliferation.
  4. Hormonal imbalances: Hormonal imbalances, such as those seen in hormonal disorders such as hyperthyroidism, have been linked to the development of pilomatrixomas.
  5. Inflammation: Inflammation of the hair follicle can lead to the formation of pilomatrixomas.
  6. UV exposure: Excessive exposure to ultraviolet (UV) light, as seen in sunburn, has been linked to the development of pilomatrixomas.
  7. Immune system dysfunction: A dysfunction of the immune system can lead to the development of pilomatrixomas.
  8. Trauma: Physical trauma to the skin, such as cuts or burns, has been linked to the development of pilomatrixomas.
  9. Infection: Infection with certain viruses, such as human papillomavirus (HPV), has been linked to the development of pilomatrixomas.
  10. Chronic skin irritation: Chronic skin irritation, such as that seen in eczema or psoriasis, has been linked to the development of pilomatrixomas.
  11. Environmental toxins: Exposure to environmental toxins, such as pesticides or heavy metals, has been linked to the development of pilomatrixomas.
  12. Nutritional deficiencies: Nutritional deficiencies, such as a lack of calcium or vitamin D, have been linked to the development of pilomatrixomas.
  13. Aging: The aging process has been linked to the development of pilomatrixomas, with the condition becoming more common in older individuals.
  14. Chronic illness: Chronic illnesses, such as diabetes or cardiovascular disease, have been linked to the development of pilomatrixomas.
  15. Medications: Certain medications, such as lithium, have been linked to the development of pilomatrixomas.
  16. Radiation exposure: Exposure to ionizing radiation, such as that seen in radiation therapy, has been linked to the development of pilomatrixomas.
  17. Autoimmune disorders: Autoimmune disorders, such as lupus or rheumatoid arthritis, have been linked to the development of pilomatrixomas.
  18. Alcohol consumption: Chronic alcohol consumption has been linked to the development of pilomatrixomas.

Symptoms

The following is a list of symptoms that may be present in individuals with pilomatrixoma:

  1. Painless, firm, and slow-growing mass or lump in the skin.
  2. The lump is often located on the head, neck, or upper extremities, but it can also occur on other parts of the body.
  3. The lump may be movable under the skin and is usually round or oval in shape.
  4. The skin over the lump may be normal or slightly reddened.
  5. The lump may be tender to touch or painful.
  6. The lump may change in size over time, becoming larger or smaller.
  7. The lump may have a smooth or irregular surface.
  8. The lump may be covered by normal skin or may have a thin layer of skin over it.
  9. The lump may be associated with skin thickening or scaling.
  10. The lump may be associated with itching or burning.
  11. The lump may be associated with skin discoloration or changes in pigmentation.
  12. The lump may be associated with changes in the texture of the skin, such as roughness or dryness.
  13. The lump may be associated with changes in the sensation of the skin, such as numbness or tingling.
  14. The lump may be associated with changes in the temperature of the skin, such as warmth or coldness.
  15. The lump may be associated with changes in the elasticity of the skin, such as stiffness or looseness.
  16. The lump may be associated with changes in the hair growth in the area, such as increased or decreased hair growth.
  17. The lump may be associated with changes in the appearance of the hair in the area, such as coarseness or thinning.
  18. The lump may be associated with changes in the sweat glands in the area, such as increased or decreased sweating.
  19. The lump may be associated with changes in the oil glands in the area, such as increased or decreased oil production.
  20. The lump may be associated with changes in the lymph nodes in the area, such as swelling or tenderness.
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In terms of the underlying cause of pilomatrixoma, it is believed to be a result of the abnormal growth and differentiation of hair matrix cells. The exact cause of this abnormal growth is not known, but it is believed to be related to a combination of genetic and environmental factors. Pilomatrixomas are not contagious and do not spread to other parts of the body.

Diagnosis

Here is a list of diagnoses and tests for pilomatrixoma:

  1. Physical examination: The first step in diagnosing pilomatrixoma is a physical examination by a healthcare provider. During this examination, the provider will feel the lump to determine its size, shape, and texture.
  2. Dermatoscopy: This is a non-invasive diagnostic tool that uses a magnifying lens and a light source to examine the skin in detail. It can help the healthcare provider differentiate between pilomatrixoma and other skin tumors.
  3. Ultrasound: An ultrasound is a diagnostic tool that uses high-frequency sound waves to produce images of internal organs and tissues. This test can help determine the size, location, and nature of the lump.
  4. Magnetic Resonance Imaging (MRI): An MRI is a diagnostic tool that uses magnetic fields and radio waves to produce images of internal organs and tissues. This test can help determine the size, location, and nature of the lump and identify any surrounding tissue involvement.
  5. Computed Tomography (CT) scan: A CT scan is a diagnostic tool that uses X-rays and computer technology to produce detailed images of internal organs and tissues. This test can help determine the size, location, and nature of the lump and identify any surrounding tissue involvement.
  6. Fine-Needle Aspiration (FNA): This is a diagnostic procedure in which a thin, hollow needle is inserted into the lump to extract a small sample of cells. The cells are then examined under a microscope to determine if they are cancerous or not.
  7. Biopsy: A biopsy is a diagnostic procedure in which a small sample of tissue is removed from the lump and examined under a microscope to determine if it is cancerous or not.
  8. Histological examination: This is a diagnostic tool that involves examining the tissue sample under a microscope to determine the type of cells and their arrangement. This information can help determine if the lump is a pilomatrixoma or another type of skin tumor.
  9. Immunohistochemistry: This is a diagnostic tool that involves staining the tissue sample with special dyes and then examining it under a microscope to determine the presence of specific proteins. This information can help determine if the lump is a pilomatrixoma or another type of skin tumor.
  10. Cytogenetic analysis: This is a diagnostic tool that involves examining the chromosomes of the cells in the tissue sample to determine if there are any genetic abnormalities. This information can help determine if the lump is a pilomatrixoma or another type of skin tumor.
  11. Molecular analysis: This is a diagnostic tool that involves examining the DNA of the cells in the tissue sample to determine if there are any genetic abnormalities. This information can help determine if the lump is a pilomatrixoma or another type of skin tumor.
  12. Flow cytometry: This is a diagnostic tool that involves using special dyes and a machine to determine the number and type of cells in the tissue sample. This information can help determine if the lump is a pilomatrixoma or another type of skin tumor.
  13. Electron microscopy: This is a diagnostic tool that involves using an electron microscope to examine the cells in the tissue sample at a high magnification. This information can help

Treatment

Treatment options for pilomatrixomas vary depending on the size, location, and number of lesions. Some of the most common treatments include:

  1. Excisional Surgery: This is the most common and effective treatment for pilomatrixomas. The lesion is removed along with a margin of normal tissue to ensure complete removal of the tumor. The size of the excision will depend on the size and location of the lesion.
  2. Cryotherapy: This involves the use of extreme cold to freeze the lesion and destroy the cells. Cryotherapy is typically used for small, superficial pilomatrixomas and is a minimally invasive procedure.
  3. Electrodesiccation and Curettage (ED&C): This is a procedure that uses an electrically charged needle to destroy the lesion and then remove the remaining tissue with a curette. ED&C is typically used for small, superficial pilomatrixomas and is a minimally invasive procedure.
  4. Laser Therapy: This involves the use of a high-energy laser to destroy the lesion and remove the tissue. Laser therapy is typically used for small, superficial pilomatrixomas and is a minimally invasive procedure.
  5. Radiotherapy: This involves the use of high-energy radiation to destroy the lesion and surrounding tissue. Radiotherapy is typically used for larger pilomatrixomas that cannot be removed with surgery or minimally invasive procedures.
  6. Chemotherapy: This involves the use of drugs to kill the cancer cells. Chemotherapy is typically used for larger pilomatrixomas that cannot be removed with surgery or minimally invasive procedures.
  7. Intralesional Injection: This involves injecting medication directly into the lesion to shrink it. This treatment is typically used for small, superficial pilomatrixomas and is a minimally invasive procedure.
  8. Topical Therapy: This involves applying medication directly to the lesion to shrink it. Topical therapy is typically used for small, superficial pilomatrixomas and is a minimally invasive procedure.
  9. Mohs Micrographic Surgery: This is a specialized form of excisional surgery that involves removing the lesion layer by layer and examining each layer under a microscope until all cancer cells have been removed. Mohs micrographic surgery is typically used for larger pilomatrixomas that have a higher risk of recurrence.
  10. Wide Local Excision: This is a surgical procedure that involves removing the lesion along with a wider margin of normal tissue to ensure complete removal of the tumor. Wide local excision is typically used for larger pilomatrixomas.
  11. Sentinel Lymph Node Biopsy: This is a procedure that involves removing a small number of lymph nodes near the lesion to determine if the cancer has spread. Sentinel lymph node biopsy is typically used for larger pilomatrixomas that have a higher risk of spreading.
  12. Biopsy: This is a procedure that involves removing a small piece of tissue from the lesion for examination under a microscope. Biopsy is typically used to diagnose pilomatrixomas and to determine if the lesion is benign or malignant.
  13. Observation: This involves monitoring the lesion over time to determine if it is growing or changing
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Medications

  1. Tamoxifen: Tamoxifen is a selective estrogen receptor modulator that has been shown to shrink pilomatrixoma’s in some cases.
  2. Methotrexate: Methotrexate is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  3. Cisplatin: Cisplatin is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  4. Doxorubicin: Doxorubicin is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  5. Epirubicin: Epirubicin is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  6. 5-Fluorouracil: 5-Fluorouracil is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  7. Paclitaxel: Paclitaxel is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  8. Vincristine: Vincristine is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  9. Vinblastine: Vinblastine is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  10. Dacarbazine: Dacarbazine is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  11. Ifosfamide: Ifosfamide is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  12. Cyclophosphamide: Cyclophosphamide is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  13. Carboplatin: Carboplatin is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  14. Gemcitabine: Gemcitabine is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  15. Irinotecan: Irinotecan is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  16. Topotecan: Topotecan is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
  17. Mitomycin: Mitomycin is a chemotherapy drug that has been used to treat pilomatrixoma in some cases.
References