A 25-year-old man presents with a second episode of spontaneous pneumothorax in 6 months. Chest CT reveals multiple bilateral thin-walled lung cysts of varying sizes. Physical examination is notable for multiple flesh-colored facial papules concentrated in the nasolabial folds (angiofibromas), a hypopigmented ash-leaf macule on the trunk, and a rough, raised plaque on the lower back (shagreen patch). He has a history of childhood seizures. Which of the following is the most likely underlying diagnosis?
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A. Birt-Hogg-Dubé syndrome 0% chose this
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B. Tuberous sclerosis complex Correct answer 0% chose this
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C. Neurofibromatosis type 1 0% chose this
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D. Marfan syndrome 0% chose this
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E. Ehlers-Danlos syndrome 0% chose this
0 answers so far.
Correct answer: B. Tuberous sclerosis complex
## Why Tuberous sclerosis complex is correct This patient has the classic triad of tuberous sclerosis complex (TSC): facial angiofibromas, ash-leaf spots, and shagreen patch, combined with seizure history. Pulmonary lymphangioleiomyomatosis (LAM) occurs in up to 80% of women w…
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