Diagnosis: Tuberous Sclerosis Complex
A 9-year-old male with multiple facial angiofibromas, hypopigmented macules, and seizure disorder presenting for dermatologic evaluation.
Multiple red-pink, dome-shaped papules (angiofibromas) distributed symmetrically on nasolabial folds, cheeks, and chin. Three ash-leaf shaped hypopigmented macules on the trunk visible under Wood lamp examination. Shagreen patch (collagenoma) on the lumbosacral area. Periungual fibromas on bilateral great toes.
Seizures diagnosed at age 2. Hypopigmented macules noted in infancy; facial papules appeared at age 5 and have increased in number. Brain MRI shows cortical tubers and subependymal nodules. Renal ultrasound reveals bilateral angiomyolipomas. Confirmed TSC2 mutation.
Topical sirolimus 0.1% ointment for facial angiofibromas with significant improvement at 12 weeks. Systemic mTOR inhibitor (everolimus) managed by neurology for seizure control and renal lesions. Pulsed dye laser considered for residual angiofibromas. Annual multidisciplinary surveillance recommended.
Tags: genodermatosis, neurocutaneous, angiofibromas, pediatric, mTOR inhibitors