CLINICAL HISTORY:

Signs and symptoms:  The lesions are asymptomatic but have gradually increased in number since the time of menopause. The patient's mother and sisters have similar lesions on their faces, which also started around menopause. However, 4 daughters are currently unaffected by this process. The patient's past surgical history includes colonoscopy, left breast lumpectomy, and removal of kidney stone. Her medications include Fosamax and Premarin. Her past dermatologic history includes treatment of actinic and seborrheic keratoses.

Previous Treatment: 

Other information: 

PHYSICAL EXAM:

The patient presents with multiple 1-3 mm flesh-colored papules of the cheeks and nose.

LABORATORY TESTS:

None.

DERMATOHISTOPATHOLOGY:

A skin biopsy from July 2002 showed a dilated hair follicle surrounded by thickening of fibrous connective tissue on a background of actinic elastosis and telangiectasia in the dermis, consistent with perifollicular fibroma.

DIFFERENTIAL DIAGNOSIS:

1.   Multiple trichoepithelioma
2.   Angiofibromas
3.   Birt-Hogg-Dube Syndrome
4.   Apocrine hidrocystomas
5.  

SCROLL DOWN FOR ANSWER AND DISCUSSION.

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 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.

Additional Comment:

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