This patient's case courtesy of Bradley Kurgis, D.O. in San Luis Obispo, CA
Abstract: 54 yo woman with multiple white firm papules on the face since her 30s.
HPI: This is a 54 yo woman with multiple scattered 2-4 mm white firm papules on the face and upper neck. She has first noticed her facial lesions at her late 30s. Previously a biopsy was obtained on the right cheek which showed sebaceous hyperplasia.
Clinical Photos (with permission of the patient):
Presumptive Diagnosis: Most likely Birt-Hogg-Dube Syndrome, but we also consider Cowden synydrome
Birt-Hogg-Dubé syndrome (BHDS) was originally described in 1977 as the grouping of 3 skin tumors-the fibrofolliculoma, trichodiscoma, and acrochordon-in family members with an autosomal dominant inheritance pattern.  The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown. The recent years it has become clear that these 3 lesions likely represent only 1 of these tumors, the fibrofolliculoma. More important, evidence now supports a definite susceptibility to malignant renal tumors and pulmonary disease in patients with BHDS. Clinical recognition of this entity is possible in spite of the fact that several syndromes exist that are characterized by the presence of multiple firm facial papules.  Jarrett, et al reported dermatoscopic findings of BHDS which showed well-demarcated pallor with central follicular opening.  The notably similar dermatoscopic findings were found in this patient. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.
The patient reported that she has seen many physicians including dermatologists for her facial lesions in the past. However, she was repeatedly told that they could not help due to the generalized nature of the lesions, and she was dismissed without any further work-ups. Her case demonstrates our orphan patient today.
1. What are your thoughts? Any suggestions for diagnostic studies?
2. The patient's most concern at this time is her facial appearance. Any treatment suggestions would be greatly appreciated.
1. Vincent A, Chan E, James W. Birt-Hogg-Dube syndrome: A review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol. 2003;49:698-705.
2. Jarrett R, Walker L, Side L, et al. Dermoscopic features of Birt-Hogg-Dube Syndrome. Arch Dermtol. 2009; 145 (10): 1208.
3. Menko FH, van Steensel MA, Giraud S, et al. Birt-Hogg-Dube syndrome: diagnosis and management. Lancet Oncol. 2009;10(12):1199-206.
4. Lencastre A, et al. Birt-Hogg-Dube syndrome. An Bras Dermatol. 2013;88:203-5.
5. Warwick Gm et al. Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dube syndrome: a case report and review of the literature. J Med Case Reports. 2010;4:106.