By Gary M. White, MD
Multiple trichodiscomas on the forehead.
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 FLCN gene which encodes the folliculin protein, the role of which is yet unknown.
The diagnosis of Birt-Hogg-Dubé syndrome may be confirmed given one major or two minor criteria.
- Five or more adult onset fibrofolliculomas or trichodiscomas with at least one confirmed histologically.
- Pathogenic germline mutation of FLCN.
- 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.
Multiple flesh-colored to whitish small monomorphous papules occur on the face. hundreds of papules with a central comedone have been described [JAMA Derm 2015;770].
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 [JAAD Case Reports May 2016;2;196–198]. Likewise, there is a report of fibrofolliculomas typical of BHD in a patient with confirmed TS.
Workup by a non-dermatologist is in order. It has been recommended that all newly diagnosed patients have a CXR, abdominal CT, and renal ultrasonography. Lifetime screening for renal cancer is necessary.
The cutaneous lesions do not need treatment. Shave biopsy, curettage, electrodessication, and laser ablation have been done. Topical rapamycin was disappointing [Plos One 2014;9;e99071].
Anais Brasileiros de Dermatologia
Facial fibrofolliculomas and trichodiscomas in BHDS Dermatology Online Journal 20(7).
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