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Images of Memorable Cases: Case 121

Module by: Herbert L. Fred, MD, Hendrik A. van Dijk

http://rup.rice.edu/memcases-button.jpg

Case_121-pres1-1.jpg

This 14-year-old boy had a lifelong history of mental retardation and epilepsy.

121. Hypomelanotic (“ash-leaf”) macules of tuberous sclerosis

Also known as Bournville disease and epiloia, this multisystem, autosomal dominant disorder has a wide variety of manifestations, chief of which are skin abnormalities, tonic-clonic seizures, and mental retardation.

The hypomelanotic macules (arrows, image below) are pathognomonic of tuberous sclerosis. They are the earliest and most common cutaneous sign, occurring in almost 90% of the patients. Usually evident at birth or during the first year of life, these lesions may involve any part of the body’s surface, vary in number from four to 100, typically exceed 1 cm in diameter, are dull-white in color, and are lance-oval in shape (tapered at one end and round at the other—the same shape as that of leaflets from the mountain- ash tree).

Case_121-diag1-1.jpg

Other pathognomonic skin lesions of tuberous sclerosis generally appear years later and include adenoma sebaceum on the face, shagreen (shark-skin) patches in the lumbar area, and periungual and gingival fibromas.

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