Birt-Hogg-Dube syndrome

Area of Science:

• Dermatology
• Genetics
• Oncology

Background:

• Birt-Hogg-Dube syndrome is an autosomal dominant genetic disorder.
• It is characterized by specific skin lesions including fibrofolliculomas, trichodiscomas, and acrochordons.
• The syndrome has known associations with internal malignancies and pulmonary complications.

Observation:

• A 27-year-old woman presented with multiple facial and upper body growths over several years.
• She reported a family history of similar lesions, with her mother diagnosed with Birt-Hogg-Dube syndrome.
• Histopathology of a skin papule revealed basaloid cells from a dilated follicular infundibulum within a fibromucinous stroma.

Findings:

• The patient's presentation and family history are consistent with Birt-Hogg-Dube syndrome.
• Histopathologic findings support the diagnosis of a fibrofolliculoma, a hallmark of the syndrome.
• The syndrome is linked to an increased risk of renal tumors, spontaneous pneumothoraces, and potentially intestinal polyps.

Implications:

• Genetic counseling and screening for renal tumors, pneumothoraces, and intestinal polyps are recommended for affected individuals.
• Management involves addressing the underlying genetic condition and managing associated risks.
• Cosmetic removal of skin lesions can be considered for patient comfort and aesthetic concerns.