BIRT-HOGG-DUBÉ SYNDROME

By Gary M. White, MD

Birt-Hogg-Dube Syndrome 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.

Diagnosis

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

Major criteria:

Minor criteria:

Clinical

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.

Treatment

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].

References

Anais Brasileiros de Dermatologia

Facial fibrofolliculomas and trichodiscomas in BHDS Dermatology Online Journal 20(7).

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