Cutaneous Fibrofolliculomas and Trichodiscomas in Birt-Hogg-Dubé Syndrome: A Review of Therapeutic Surgical Strategies.

Abstract

Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis characterized by multiple cutaneous fibrofolliculomas and trichodiscomas, lung cysts, and renal cell carcinoma.

Objective: To review the surgical strategies used to manage fibrofolliculomas and trichodiscomas, developing recommendations for surgical treatment.

Methods: A literature search was conducted to review cases of BHD associated fibrofolliculomas and trichodiscomas and the role of cryosurgery, curettage, dermabrasion, electrosurgery, lasers, and surgical excision as therapies.

Results: A total of 17 articles were included. Randomized controlled trials were absent, and isolated reports or small series reporting on the use of cryosurgery, dermabrasion, lasers, electrosurgery with and without curettage, and surgical excision were found. Electrosurgery demonstrated good tolerability and limited recurrence 24 to 72 months postprocedure. Laser treatments of BHD tumors included ablative Erbium: YAG and unfractionated/fractionated carbon dioxide (CO2) lasers. Recurrence varied from 3 to 48 months. Combination approaches using both CO2 laser and surgical debulking have also demonstrated benefit. One study combined topical rapamycin with nonablative fractional laser therapy.

Conclusion: Each surgical modality has an associated benefit and risk profile. Consistent with inherited skin tumor syndromes, relapse and recurrence postprocedure is common. Development of a novel topical therapy remains attractive and requires mechanistic understanding of the tumorigenesis of BHD skin tumors.