CORRECT DIAGNOSIS:
Birt-Hogg-Dube Syndrome
DISCUSSION:
Birt-Hogg-Dube Syndrome is characterized by fibrofolliculomas, benign tumors of the hair follicle that typically occur on the head and neck. The tumors present as white or skin-colored hard papules 1-3 mm in diameter. Favorite tumor locations are on the nose, ear lobes, forehead, and temporal regions. Patients vary in the number of fibrofolliculomas; some patients may have 10 or fewer tumors, while other more severely affected patients may have hundreds of lesions.
This syndrome may also be associated with acrochordons, collagenomas, lipomas, oral fibromas, and spontaneous pneumothorax. Possible associated malignancies include medullary carcinoma, colon cancer, parotid oncocytoma, and renal cell carcinoma. This is an autosomal dominantly inherited trait. Our patient is being followed closely by her primary care physician. Fortunately, for this patient, no malignancies have been detected thus far.
TREATMENT:
This patient has noticed a modest improvement with Tazorac gel 0.05% and cryotherapy.
Other Treatment options:
Other therapeutic efforts include dermabrasion and laser therapy.
REFERENCES:
1. Pavlovich CP et al: Renal Tumors in the Birt-Hogg-Dube Syndrome. Am J Surg Pathol. 2002 Dec;26( 12): 1542-52.
2. Zbar B et al: Risk of Renal and Colonic Neoplasms and Spontaneous Pneumothorax in the Birt-Hogg-Dube Syndrome. Cancer Epidemiol Biomarkers Prev. 2002 Apr; 11 (4):393-00.
3. Gambichler T et al: Treatment of Birt-Hogg-Dube Syndrome with Erbium: YAG Laser. J Am AcadDermatol. 2000 Nov;43(5 Ft l):856-8.
4. Liu V, Kwan T, Page EH: Parotid Oncocytoma in the Birt-Hogg-Dube Syndrome. J Am Acad Dermatol. 2000 Dec;43(6): 1120-2.