Multiple trichodiscomas on the forehead.

A 50-year-old man presented with facial papules on the cheeks that had appeared approximately 1.5 years prior and gradually spread over the face and neck. His mother and brother had similar clinical findings. Family history was notable for a maternal uncle who had died in his 30s of an unknown type of renal cancer. Computed tomography of the chest showed multiple bibasilar pulmonary cysts. Magnetic resonance imaging was negative for renal tumors.

BIRT-HOGG-DUBÉ SYNDROME

Birt-Hogg-Dubé syndrome (BHDS) is a rare genodermatosis inherited AD and is characterized by multiple papules on the face, skin tags, pulmonary lesions and renal tumors.

Benign hair follicle hamartomas known as fibrofolliculomas and trichodiscomas, acrochordons (skin tags), and angiofibromas develop.
Pulmonary lesions (bibasilar cysts and, less frequently, spontaneous pneumothorax) are common.
Malignant renal tumors of various histologic types may occur. Risk is 16% by age 70.
BHD is caused by mutations in the folliculin (FLCN) gene which encodes the folliculin protein, the role of which is yet unknown.

Diagnosis

The diagnosis of Birt-Hogg-Dubé syndrome may be confirmed given one major or two minor criteria.

Major criteria:

Five or more adult onset fibrofolliculomas or trichodiscomas with at least one confirmed histologically.
Pathogenic germline mutation of FLCN.

Minor criteria:
Multiple pulmonary cysts without an apparent cause (with or without spontaneous pneumothorax).
Renal cancer with early onset (<50 years old).
First degree relative with BHD syndrome.

Clinical

Multiple flesh-colored to whitish small monomorphous papules occur on the face, neck, ears and/or upper trunk. Hundreds of papules with a central comedone have been described.

BHD and Tuberous Sclerosis

Significant cutaneous clinical overlap may exists between BHD and TS. For example, facial angiofibromas and Koenen's tumors indistinguishable from those in TS have been reported in patients with BHD. Likewise, there is a report of fibrofolliculomas typical of BHD in a patient with confirmed TS.

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