ABSTRACT
Tuberous sclerosis complex (TSC) is an autosomal dominant condition where loss-of-function mutation in 2 tumor suppressor genes, hamartin and tuberin, result in hamartoma formation in multiple organs, notably the skin, brain, kidney, retina, lungs, and heart. Many of the diagnostic features for TSC involve the skin. Because TSC is relatively rare even among Filipinos, there is limited data on the use of any treatment modality which addresses the cutaneous aspects of this disease in this population. A 33-year-old Filipino male presented with multiple skin-colored to hyperpigmented papules and nodules on the centrofacial area, which gradually progressed in size and number since childhood. He had normal growth and development. Family medical history was significant for a brother with similar facial lesions who died of a brain tumor in childhood. Further physical examination revealed shagreen patches, ashleaf spots, confetti macules, periungual fibromas, gingival fibromas and dental pitting. Work-up revealed the presence of renal angiomyolipomas and retinal hamartomas. A diagnosis of TSC was made. Histopathology of a facial nodule was consistent with angiofibroma. Desiring cosmesis, the patient underwent 2 sessions of ablation of the facial angiofibromas using a carbon dioxide laser (ESC/Sharplan) at 1.0W 3mm spot size at continuous mode, spaced one month apart. Follow-up at one month and six months post-treatment showed satisfactory results described as flattening of lesions with no noted recurrence of lesions. The dermatologic manifestations of TSC comprise majority of the features needed for diagnosis, and may warrant treatment because of cosmetic disfigurement. The role of the dermatologist in the recognition, diagnosis and management of this condition is emphasized. This case of a Filipino patient with TSC demonstrates that carbon dioxide laser treatment is effective for the facial angiofibromas of TSC, although the risk for recurrence is high. Definitive treatment still entails addressing the underlying genetic defect.