By rray, 30 January, 2015
(BMJ)—A 63-yo woman w/ hx of epilepsy presented w/ 2 smooth, firm, flesh-colored lumps protruding from the nail folds of her toes. She had never undergone neuroimaging despite hx of seizures. What is the unifying diagnosis for her skin lesions and seizures?
Neurocutaneous melanosis
Sturge-Weber syndrome
Tuberous sclerosis
Glioblastoma multiforme
Neurofibromatosis
You are correct. Periungual fibromas are an important sign of tuberous sclerosis complex, an autosomal dominant multisystem disorder characterized by hamartomas in multiple organs, including skin, brain, eyes, kidney, and heart. Skin lesions are found in approximately 2/3 of cases and also include facial angiofibromas (‘adenoma sebaceum’), the shagreen patch, & ash leaf-shaped macules. A CT brain confirmed the dx of tuberous sclerosis and demonstrated subependymal nodules. This case highlights the importance of performing a skin exam, particularly of the feet & hands, in any pt presenting w/ seizures.