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Tuberous Sclerosis Complex — RACP Paediatrics MCQ

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ModerateDermatologyTuberous Sclerosis ComplexRACP Paediatrics

A 5-year-old boy presents with multiple hypopigmented macules on his trunk. He also has a seizure disorder and a facial angiofibromatous rash. MRI brain shows subependymal nodules and cortical tubers. What is the most likely diagnosis?

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Correct answer: D — Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder (TSC1 or TSC2 mutations) characterised by hamartomas in multiple organs. The classic triad (Vogt triad) is seizures, intellectual disability, and facial angiofibromas. Hypopigmented ('ash leaf') macules are the earliest skin finding (best seen with Wood's lamp). Subependymal nodules and cortical tubers are characteristic CNS findings.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Tuberous Sclerosis Complex