皮膚科および皮膚科疾患ジャーナル

A Rare Cause of Pigmentation Disorder; Tuberous Sclerosis Complex

Abstract

Ragip Ismail Enginand Atilla Cayir

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease principally characterized by the triad of mental retardation, adenoma sebaceum and epilepsy. It may affect all organs, but most commonly the skin, brain, heart, eyes and kidneys. The earliest finding, and the most common in the skin, consists of hypopigmented macules (ash leaf). In addition, numerous small hypopigmented macules (confetti-like macules) occur in the pretibial region. Shagreen patches, a form of collagenoma, may be seen in the lumbosacral region in half of patients. Skin findings also include angiofibromas, known as adenoma sebaceum, in the face and Koenen’s tumor. Other skin lesions include cafe-au-lait spots and molloscum fibrosum pendulum resembling acrochordon. We describe the skin findings in particular of tuberous sclerosis complex in the light of the current literature.