Pilomatrixoma, also known as pilomatrixoma or Malherbe calcifying epithelioma, is a benign tumor that usually occurs under the skin. These tumors originate from the matrix cells of the hair follicle and are commonly seen in children and young adults, although they can occur at any age. Pilomatrixomas are generally benign and rarely show malignant transformation. However, it is important to consult a healthcare professional if any mass is noticed under the skin.
What Causes Pilomatrixoma?
The exact causes of pilomatrixoma are not fully understood, but some factors may contribute to the development of these tumors:
CTNNB1 Gene Mutation: Many pilomatrixomas have mutations in the CTNNB1 gene, which regulates cell growth and differentiation.
Familial Predisposition: Although rare, pilomatrixomas can show familial predisposition and may be seen in multiple family members.
Age: Pilomatrixomas commonly occur in children and young adults, but they can be seen at any age.
Trauma: In some cases, trauma to the skin or hair follicle may trigger the development of pilomatrixoma.
Myotonic Dystrophy: People with this genetic muscle disease may have an increased risk of pilomatrixoma.
Gardner Syndrome: This syndrome is a genetic condition that predisposes individuals to various tumors and polyps, and pilomatrixomas may be part of this syndrome.
What Are the Symptoms of Pilomatrixoma?
The symptoms of pilomatrixoma include:
- a firm, movable mass under the skin
- usually a painless mass
- bluish or reddish discoloration over the mass
- slow growth
- commonly found on the face, neck, and upper extremities
- signs of calcification (hardening)
How Is Pilomatrixoma Diagnosed?
The methods used to diagnose pilomatrixoma include:
Physical Examination: The doctor evaluates the size, shape, location, and firmness of the mass. Physical examination is usually the first step in diagnosis.
Dermatoscopy: This can be used for a more detailed examination of the mass under the skin.
Ultrasound: It can be used to assess the structure and content of the mass.
MRI (Magnetic Resonance Imaging): It can help in evaluating more complex or larger lesions.
CT (Computed Tomography): It can particularly show calcifications and their relationship with surrounding tissues better.
Biopsy: A sample taken from the mass is examined under a microscope for a definitive diagnosis. A biopsy helps determine the cell type and structure.
Histopathological Examination: Laboratory histopathological examination of the biopsy sample is crucial for confirming the diagnosis of pilomatrixoma.
How Is Pilomatrixoma Treated?
The treatment of pilomatrixoma is usually performed through surgical intervention:
Complete Excision: Complete removal of the tumor is the most common and effective treatment method. During surgery, the tumor and some surrounding healthy tissue are removed to reduce the risk of recurrence.
Small Masses: Small and superficial masses can be removed under local anesthesia.
Large or Deep Masses: Larger or deeper masses can be removed under general anesthesia and with a more careful surgical technique.
Laser Surgery: In some cases, laser surgery can be used to remove small pilomatrixomas.
Asymptomatic and Small Masses: Masses that do not cause symptoms and are small in size can be regularly monitored and surgically removed if they grow or change.
Post-Surgical Care: Post-operative wound care is important. Appropriate wound care should be provided to reduce the risk of infection and speed up healing.
How Should Pilomatrixoma Be Managed?
The management of pilomatrixoma should be carefully planned based on the characteristics of the tumor, the patient’s overall health, and symptoms:
Physical Examination and Imaging: First, a physical examination should be performed, and if necessary, the structure of the tumor should be evaluated with ultrasound, MRI, or CT scans.
Biopsy: A biopsy should be performed for a definitive diagnosis.
Excision Planning: Complete surgical removal of the pilomatrixoma is generally recommended. Surgical intervention should be planned according to the size and location of the tumor.
Local or General Anesthesia: Small and superficial tumors can be removed under local anesthesia, while larger or deeper tumors may require general anesthesia.
Wound Care: Appropriate wound care should be provided to reduce the risk of infection after surgery. Regular dressing and keeping the wound area clean are important.
Pain Management: Pain relievers can be used for pain control after surgery.
Regular Check-Ups: Regular doctor check-ups should be performed after surgery. The surgical area should be monitored for any recurrence or complications.
Imaging: Additional imaging tests can be performed if necessary, especially if there is suspicion of recurrence.
Infection: If an infection develops at the surgical site, appropriate antibiotic treatment should be administered.
Keloid or Scar: Dermatological treatments can be considered for keloids or excessive scar tissue that may form after surgery.
Patient Education: The patient should be informed about pilomatrixoma and the treatment process. This can reduce the patient’s concerns and increase adherence to treatment.
Support Groups: Psychosocial support and counseling services can be provided for the patient and family if necessary.
Laser Surgery: Laser surgery can be considered for some cases, especially for small pilomatrixomas.
Cryotherapy: Cryotherapy, which involves freezing and destroying tumor cells, can be used, but this method is rarely preferred in the treatment of pilomatrixoma.