A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in benign skin lesions, spontaneous pneumothorax, and increased risk for a variety of renal tumors. Skin manifestations of BHD include trichodiscoma (TD) and fibrofolliculoma (FF), which may represent the same pathologic entity. These lesions can identify BHD patients, who upon positive genetic testing can be considered for life-long surveillance for renal neoplasms. OBJECTIVE: To characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral. METHODS: Retrospective chart reviews of patients with confirmed or possible diagnosis of TD or FF at the University of Michigan from September 2002 through October 2020 to assess pathologic findings, personal and family history of BHD manifestations, referral for genetic evaluation, and genetic testing results. RESULTS: 64 patients had a pathologic diagnosis of TD or FF, 16 of whom (25%) were referred to cancer genetics. Fourteen patients completed genetic evaluation, 9 of whom were diagnosed with BHD (64%), with 6 unique pathogenic variants in FLCN. CONCLUSION: Providers should consider referral for genetic evaluation for patients with biopsy-proven TD or FF, as early diagnosis of BHD provides the opportunity for early detection and treatment of other BHD-associated conditions.

The impact on quality-of-life following treatment of surgical facial scars with laser-based therapy: a scoping review.

Post-surgical scarring impacts quality of life (QOL) and is a significant source of morbidity. Existing treatments targeted at improving the appearance and morbidity of scarring include laser-based therapies. Although lasers are frequently used to improve scar appearance, the effects on QOL are unclear. A scoping review was conducted to assess the impact of laser-based therapy for patients with surgical facial scarring on QOL. Throughout literature review was conducted with the guidance of a medical librarian. Relevant articles underwent two rounds of screening by two, independent reviewers. Data were extracted from each article and later analyzed. Of the four articles analyzed, laser-based therapies were demonstrated as effective in improving QOL for patients with facial scars resultant from surgical intervention. Laser-based therapy should be considered when treating facial scarring resultant from surgical intervention, as it has been shown to improve patient QOL. Standardization of QOL assessment and further studies expanding scar inclusion should be pursued given the paucity of information found through this review.