Fibrofolliculomas (Birt-Hogg-Dube syndrome)

Fibrofolliculomas (Birt-Hogg-Dube syndrome)

Chris Schach

Author Bio -

 

Key Points
*Inherited condition which causes the formation of benign tumors on the head, face and upper body
*Caused by a gene mutation which affects a protein called folliculin
*Patients with this disorder have a significantly elevated risk of internal malignancy, in particular renal cell carcinoma (kidney cancer).
*Is autosomal dominant, which indicates that 50% of the offspring of the affected person will also be affected
*Consists of small lesions, papular in shape, which form on the scalp, neck, face and upper body

Fibrofolliculomas (Birt-Hogg-Dube syndrome) is an inherited condition which causes the formation of benign tumors over the head, face and upper body. Tumors can number anywhere between 2 to well over 100. The condition consists of the formation of small papular lesions on the scalp, face, neck and upper body, front and back. The condition may result in 3 different tumor types: Fibrofolliculomas,  Trichodiscomas, and Acrochordons, or skin tags. Fibrofolliculomas and Trichodiscomas may represent the same tumor cut at different angles. Skin tags are small bumps that resemble warts that are thin at their base. Once formed, the tumors are permanent.

Fibrofolliculomas are the result of an autosomal dominant gene defect, meaning the condition will be passed down to 50% of the affected person's offspring. The gene defect affects the protein folliculin. Anyone with a family history of the condition can be affected. Persons with the condition have an increased risk for the development of certain cancers, including colon and kidney cancer, in addition to spontaneous lung collapse due to cysts in the lungs.

Differential Diagnosis (Other conditions with similar appearance)

Trichilemmoma
Trichoepithelioma

Diagnosis
Key Points
*Preliminary diagnosis based on lesion appearance
*Skin biopsy is then performed to confirm diagnosis
*Other tests will then be performed to check for attendant conditions

Initial diagnosis of fibrofolliculoma is based on the appearance of lesions, then confirm with a biopsy of the lesions. Health care professionals will then perform other tests, including chest x-rays, renal ultrasounds, CT/MRI of the abdominal area, and colonoscopies to check for attendant conditions.

Treatment
*Treatment of symptoms often consists of removal by various procedures
*Affected persons will need to be regularly checked for attendant conditions as they are at increased risk for certain malignancies

There is no specifically recommended treatment for fibrofolliculoma. Treatment of symptoms often involves the removal of the lesions themselves by various procedures, including excision, Dermabrasion, laser therapy, and curettage and cautery. Affected persons will need to be regularly tested for attendant malignancies, as they are at an increased risk of renal and colon cancer due to the condition.

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