Journal of the American Academy of Dermatology
Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dubé syndrome
Section snippets
Case report
A 40-year-old man presented with a 2-year history of multiple asymptomatic facial papules that had gradually increased in number over time. The patient had previously been diagnosed with acne vulgaris, but failed to respond to topical therapies and oral minocycline. Although the patient had no significant past medical history, his identical twin brother had similar facial papules as well as a history of two spontaneous pneumothoraces in his twenties. There was no family history of renal tumors,
Discussion
BHDS was recently found to be caused by heterozygous loss-of-function mutations in the BHD tumor suppressor gene on chromosome 17p11.2 (also represented by the symbol FLCN, as recently proposed by the HUGO Gene Nomenclature Committee), which encodes the novel protein folliculin.15 Mutations are predicted to result in truncation of folliculin, which is highly conserved across species and expressed in the kidney, lung, and skin. The 1733insC frameshift mutation found in our patient is within a
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Cited by (71)
Birt-Hogg-Dubé syndrome in an overall view: Focus on the clinicopathological prospects in renal tumors
2024, Seminars in Diagnostic PathologyThe Role of Heat Shock Protein-90 in the Pathogenesis of Birt-Hogg-Dubé and Tuberous Sclerosis Complex Syndromes
2021, Urologic Oncology: Seminars and Original InvestigationsMasquerading case of a lumpy bumpy face
2020, JAAD Case ReportsBirt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex
2019, JAAD Case ReportsCitation Excerpt :However, TSC-associated AFs occasionally manifest later in life, and some patients with BHDS may develop AFs. A patient with genetically proven BHDS was reported in whom 39 of 41 papules removed by shave excision were AFs while just 2 were FFs.3 A family study of patients with BHDS found that 10 of 51 families had ≥1 member with histologically proven AF.4
Birt-Hogg-Dubé Syndrome
2016, Clinics in Chest MedicineKoenen's tumor and facial angiofibromas in a case of Birt-Hogg-Dubé syndrome: A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex
2016, JAAD Case ReportsCitation Excerpt :Koenen's tumors are typically associated with TS. Whereas the typical facial papules of BHD consist of fibrofolliculomas and trichodiscomas, facial angiofibromas indistinguishable from those in TS have also been reported.2,3 Likewise, there is a report of fibrofolliculomas typical of BHD in a patient with confirmed TS.4
Supported by Stiefel Laboratories.
Funding sources: None.
Conflicts of interest: None identified.
Presented at a meeting of the New England Dermatological Society at Yale University on October 25, 2003.