What are the other Names for this Condition? (Also known as/Synonyms)

• Brooke-Fordyce Disease
• Epithelioma Adenoides Cysticum (EAC) of Brooke
• Hereditary Multiple Benign Cystic Epithelioma

What is Multiple Familial Trichoepithelioma? (Definition/Background Information)

• Multiple Familial Trichoepithelioma (MFT) is a rare, congenital skin condition that manifests as multiple tumors (derived from hair follicles) on the face, scalp, neck, and trunk. It is also known as Brooke-Fordyce Syndrome
• The tumor is usually present in children and adolescents. The cause of the condition is influenced by genetic factors and having a family history of MFT is a major risk factor, since it is an autosomal dominant condition
• Multiple Familial Trichoepithelioma may affect the eye, ear, nose, and other parts of the body. This may result in impaired vision, hearing, and olfactory functions. It can also cause deep emotional stress and trauma due to cosmetic concerns
• There is no cure available for Multiple Familial Trichoepithelioma, since it is a genetically inherited disorder. However, appropriate symptomatic treatment may be provided to the affected individuals
• The prognosis of Multiple Familial Trichoepithelioma is based on the severity of the disorder. Those with mild signs and symptoms have better prognosis than individuals with severe presentations

Who gets Multiple Familial Trichoepithelioma? (Age and Sex Distribution)

• Multiple Familial Trichoepithelioma is a rare congenital condition that typically manifest in childhood and adolescence
• Both males and females may be affected
• Individuals of all racial and ethnic background may be affected

What are the Risk Factors for Multiple Familial Trichoepithelioma? (Predisposing Factors)

• The risk factor for Multiple Familial Trichoepithelioma is inheritance of a mutation from any of the parent (dominant pattern of inheritance)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Multiple Familial Trichoepithelioma? (Etiology)

The cause of Multiple Familial Trichoepithelioma is due to genetic mutations and abnormalities. It is an autosomal dominant condition.

• The condition is associated with certain genetic alterations, notably involving chromosome 9p21
• Mutations in CYLD gene, which are responsible for cell growth, is reported to be involved. But, not all individuals with MFT have mutations in this gene
• Hence, scientists believe that there may be other mutations that may cause the condition, which are yet to be determined

The skin condition is not infectious and does not spread from one individual to another through contact.

What are the Signs and Symptoms of Multiple Familial Trichoepithelioma?

The signs and symptoms of Multiple Familial Trichoepithelioma may include:

• The presence of multiple trichoepithelioma tumors derived from hair follicles on the skin
• The face, scalp, neck, chest and back are usually involved. The tumors may occur anywhere in the body
• The greatest number of lesions are seen on the central face, around the nose, upper lip, and central cheeks
• Other tumor types that can develop include spiradenoma, cylindroma, and trichoblastoma, in a few cases
• The condition is progressive in nature and the tumor numbers increase with time

For some unknown reason, the severity of symptoms is more in females than in males.

How is Multiple Familial Trichoepithelioma Diagnosed?

A diagnosis of Multiple Familial Trichoepithelioma may involve the following:

• A thorough medical history and physical examination
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Testing for genetic mutations
• Differential diagnosis of other tumors, such as the following should be ruled out; hence, biopsy is an important diagnostic tool:
  • Familial cylindromatosis
  • Brooke-Spiegler syndrome

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Multiple Familial Trichoepithelioma?

The complications of Multiple Familial Trichoepithelioma may include the following:

• Multiple tumors can affect vision, hearing, smell, and other functions, depending on the body part involved
• Emotional stress and depression due to severe cosmetic concerns
• In some cases, numerous small tumors may entirely cover one’s face and neck region
• Occasionally, some tumor types are known to undergo malignant transformations to basal cell carcinoma (BCC)

How is Multiple Familial Trichoepithelioma Treated?

There is no cure for Multiple Familial Trichoepithelioma. However, symptomatic treatment may be provided that may include the following:

• Consultation with a dermatologist is typically required
• Skin-directed therapies
• Electrosurgery or laser surgery for cosmetic issues
• Follow-up care with regular screening and check-ups are encouraged

How can Multiple Familial Trichoepithelioma be Prevented?

Currently, there are no known methods to prevent Multiple Familial Trichoepithelioma, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as MFT

What is the Prognosis of Multiple Familial Trichoepithelioma? (Outcomes/Resolutions)

The prognosis of Multiple Familial Trichoepithelioma depends upon the severity of the signs and symptoms. Individuals with mild symptoms have better prognosis than those with severe skin presentations.

Additional and Relevant Useful Information for Multiple Familial Trichoepithelioma:

• Cleaning the skin too hard with strong chemicals or soaps may aggravate the skin condition. Care must be taken avoid strong soaps and chemicals that could potentially worsen the condition

The presence of dirt on the body is not a causative factor for the condition. However, it helps to be clean and hygienic, which may help the condition from getting worse