Potential for effective treatment and prevention of periungual fibromas and angiofibromas in tuberous sclerosis

Authors:
Publisher website
Google Scholar
Abstract
Tuberous sclerosis is an orphan neurocutaneous hereditary disorder characterized by multisystem involvement and age-dependent manifestation of symptoms. The disease results from sporadic or inherited mutations in TSC1 (9q34, hamartin) or TSC2 (16p13.3, tuberin). Under normal conditions, TSC1 and TSC2 regulate cell proliferation and tumor growth by inhibiting the mTORC1 complex (mechanistic target of rapamycin complex 1). Mutations in TSC1 and TSC2 disrupt formation of the hamartin–tuberin complex, leading to persistent activation of mTORC1 and uncontrolled cellular proliferation. A detailed description of cutaneous manifestations of tuberous sclerosis is crucial for early diagnosis. Angiofibromas and periungual fibromas are major diagnostic criteria for tuberous sclerosis. Although not life-threatening, these tumors significantly impair patients’ quality of life due to their size, bleeding upon trauma, and risk of secondary infection. Removal of angiofibromas and periungual fibromas substantially improves patients’ quality of life. Various removal techniques have been described in the scientific data, with laser modalities offering practical advantages over surgical excision. We followed two adult patients with large facial angiofibromas and periungual fibromas. Angiofibromas and periungual fibromas were removed using a CO2 laser under local infiltration anesthesia, followed by wound resurfacing with the same device in pulsed mode. Laser output ranged from 2 to 4 W. Immediately after excision, facial angiofibromas were additionally treated intralesionally with a pulsed dye laser. Excised tissue was submitted for histopathologic examination. Outcomes were assessed at 1 month, and patients were subsequently monitored every 3 months for 2 years by a dermatovenereologist. No tumor recurrences were observed during follow-up, underscoring the practical value of this approach for effective fibroma removal and improved quality of life.

This publication has 26 references indexed in Scilit: