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.
• Multiple endocrine neoplasia (facial papules) • Birt-Hogg-Dubé syndrome • Cowden syndrome • Neurofibromatosis • Epidermal nevus syndrome • Acrochordons
• Autosomal dominant neurocutaneous disorder — TSC1 (hamartin) or TSC2 (tuberin) mutations → mTOR pathway overactivation • Cutaneous features (in order of appearance): ash leaf macules (earliest, even neonatal), facial angiofibromas (adenoma sebaceum), shagreen patch, periungual fibromas (Koenen tumors) • Ash leaf macules: best visualized under Wood lamp — present in >90% of patients • "Confetti" skin lesions: hypopigmented macules 1-2mm — recently recognized as a specific sign • Forehead fibrous plaque: pathognomonic but often overlooked • Multi-system hamartomas: brain (cortical tubers, SEN, SEGA), kidney (angiomyolipomas), heart (rhabdomyomas), lungs (LAM) • mTOR inhibitors (sirolimus, everolimus) — targeted therapy for multiple manifestations including angiofibromas
Tags: genodermatosis, neurocutaneous, angiofibromas, pediatric, mTOR inhibitors