Authors: Erika Gayle Chua Ty MD, Patricia Anne Nicole Ramirez-Ecarma, MD, Vilma O. Pelino, MD, FPDS, Elizabeth P. Prieto, MD, FPDS


Introduction: Tuberous sclerosis complex is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. In familial cases, TSC is autosomal dominant. However, most cases actually occur as sporadic cases due to new, mutations in a tumor suppressor gene, either TSC1 or TSC2. Characteristic skin lesions include angiofibroma, facial fibrous plaques, shagreen patch, hypomelanotic macules and ungal fibromas. Many TSC patients show evidence of the disorder in the first year of life. However, clinical features can be subtle initially, and many signs and symptoms take years to develop.

Case Summary: A 16 year-old male presents with a 10-year history of few, skin-colored to slightly erythematous plaques on his right infraorbital area and forehead and an 8-year history of erythematous papules on the nasal and malar area. He also had few skin-colored plaques on his lumbosacral area. There were no associated symptoms such as bleeding, tenderness, pruritus or discharge. There were also no systemic symptoms as well as seizures, developmental or behavioral problems. The patient’s mother, maternal aunt and cousin have similar lesions. KUB utrasound revealed bilateral angiomyolipoma and plain cranial CT scan showed few cortical tubers and subependymal nodules. Histopathology results showed exophytic dome-shaped structures whose dermal core exhibits papillary dermal fibrosis with concentric perifollicular fibrosis, vascular ectasia and proliferation, consistent with a diagnosis of angiofibroma. The patient’s angiofibroma was treated with fractional CO2 laser using the following settings: mode: continuous wave, power: 2 watts, pulse duration: 5ms, repeat time: 30
ms. 1 week after the procedure, he noted 70% improvement with flattening of the lesions. There was no note of recurrence after 1 month.

Conclusion: Treatment of the dermatologic manifestations of TSC is mostly surgical. However, the introduction of topical sirolimus in recent years has revolutionized the treatment of facial angiofibromas. Due to the nature of the disease, majority of the cases of angiofibroma persist throughout life and recurrence is common despite treatment. Fortunately, none of the skin lesions in TSC is prone to malignant degeneration. Nevertheless, lesions of TSC may compromise the quality of life of patients due to cosmetic concerns.





tuberous sclerosis complex, angiofibroma, facial fibrous plaques, shagreen patch, fractional CO2 laser



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