pediatrics
Tuberous Sclerosis Complex (TSC)
Symptoms and Signs of TSC
Manifestations vary greatly in severity. Skin lesions are typically present. Infants with CNS lesions may present with a type of seizure called Infantile Spasms . Affected children may also have other types of seizures, Retinal achromic patches as well as retinal hamartomas are common and may be visible with funduscopy. Pitting of enamel in permanent teeth is common. Skin findings include Initially pale, ash leaf–shaped macules, which develop during infancy or early childhood Angiofibromas of the face (adenoma sebaceum), which develop during later childhood Congenital shagreen patches (raised lesions resembling an orange peel), usually on the back Subcutaneous nodules Café-au-lait spots Subungual fibromas (Koenen tumors), which can develop any time during childhood or early adulthood Ash-leaf spots are depigmented areas present in>90% of patients with tuberous sclerosis complex. The areas are 1 to 3 cm in length and may be more easily seen under ultraviolet light (Wood light). By permission of the publisher. From Puduvalli V:Atlas of Cancer. Edited by M Markman and R Gilbert. Philadelphia, Current Medicine, 2002. This photo shows angiofibromas (adenoma sebaceum) on the face of a patient with tuberous sclerosis complex. DR M.A. ANSARY/SCIENCE PHOTO LIBRARY This photo shows angiofibromas (adenoma sebaceum) on the face of a patient with tuberous sclerosis complex. Photo courtesy of Karen McKoy, MD. Koenen tumors are periungual and subungual fibromas (reddish to flesh-colored papules emerging from nail folds) in patients with tuberous sclerosis complex. © Springer Science+Business Media 