Tuberous sclerosis
QUESTION 91
A 10-year-old girl was seen in the dermatology clinic for mild acne. Her parents tried over-the-counter 2% salicylic acid wash and 5% benzoyl peroxide wash without success before starting adapalene 0.1% cream. At her last well-child examination, she was referred to dermatology for further evaluation due to lack of response to therapy. Her past medical history is notable for cardiac rhabdomyomas, renal cysts and infantile seizures. On examination, there were numerous small reddish papules along the malar cheeks, nose and chin (91a). There were also several large hypopigmented patches on the trunk and extremities, and a cluster of soft, fleshy papules on the lower central back (91b).
i. What is the most common mutation seen in this diagnosis?
ii. What are the major and minor criteria for diagnosis?
iii. What screening tests are recommended after the diagnosis?
iv. What findings are seen in the lungs of some of these patients, most commonly women of childbearing potential?
Answer 91
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