Asude KARA POLAT, EMİNE TUĞBA ALATAŞ, Ulviye KIRLI, Rabia Mihriban KILINÇ

Kortikal Tuber, Subependimal Nodül, Anjiyomiyolipom ve Deri Bulguları Birlikteliği olan Tuberoskleroz Kompleks:Bir Olgu Sunumu

Tuberoskleroz kompleks beyin, göz, böbrek, akciğer, kalp, kemik ve deri gibi organ ve dokuyu ilgilendiren multisistemik bir sendromdur. Otozomal dominant geçişlidir. Beyinde en sık kortikal tuber, subependimal nodül, astrositom, ak madde tutulumu gözlenir. Böbrekte anjiyomiyolipom, renal kist ve renal hücreli karsinom saptanabilir. Deri tutulumunda ise; adenoma sebaseum, oral fibröz nodüller, periungual fibrom, hipopigmente maküller, shagreen patch, akrokordonlar ve diş minesinde noktalanmalar görülmektedir. Burada, deri bulgularına ek olarak beyin ve renal tutulumlu tuberoskleroz kompleksi olarak değerlendirdiğimiz 13 yaşında kız çocuğu olgusunu sunduk. Olgu eşliğinde literatürü gözden geçirdik.

Cortical Tuber, Subependymal Nodule, Angiomyolipoma and Skin Manifestations Associated with Tuberous Sclerosis Complex: A Case

Report Tuberous sclerosis complex is a multisystemic syndrome that concerns organs and tissues, such as brain, eye, kidney, lung, heart, bone, and skin. It has an autosomal dominant inheritance. The most common involvement in brain is cortical tuber, subependymal nodules, astrocytoma, and white matter. Renal angiomyolipoma, renal cysts, and renal cell carcinoma can be detected in kidneys. Adenoma sebaceum, oral fibrous nodules, periungual fibroma, hypopigmented macules, shagreen patch, acrochordons and tooth enamel is seen in skin. Herein we presented a 13-year-old female patient with brain and renal involvement in addition to skin manifestations that we consider tuberous sclerosis complex. We reviewed the literature accompanying the case.

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