Abstract
Tuberoskleroz
(TS) başlıca mental retardasyon, epilepsi ve adenoma sebaseum triadı ile
karakterize otozomal dominant geçişli bir hastalıktır. Tüm triad hastaların
ancak üçte birinde saptanabilmektedir. Tuberoskleroz kompleksi
(TSK), başlıca santral sinir sistemi, deri, retina, böbrek ve kalbi tutan bir
hamartomatozistir. Tuberosklerozlu hastalarda böbrek tutulumu ile ilişkili
patolojiler; angiomyolipom (%70–80), renal kist (%20) ve çok nadiren kanserler
olup en sık görülen nörolojik bulgu ise epileptik nöbetlerdir. Bu
yazıda, yüzde sivilce yakınması ile dermatoloji polikliniğine başvuran deri
bulguları ile tuberoskleroz kompleksi tanısı düşünülen, radyolojik incelemelerle
ek olarak kortikal tuber ve anjiyomiyolipom saptanan bir olgu sunuma değer
bulunmuştur.
Keywords
References
- 1. Rosser T, Panigrahy A, McClintock W. The diverse clinical manifestations of tuberous sclerosis complex: a review. Semin Pediatr Neurol. 2006;13: 27-36.
- 2. Morris BS, Garg A, Jadhav PJ. Tuberous sclerosis: A presentation of less-commonly encountered stigmata. Austral Radiol. 2002; 46: 426-30.
- 3. Patel SB, Shah SS, Goswami K, Shah N, Pandhi S. Case report: Tuberous sclerosisit’s varied presentation. Ind J Radiol Imag. 2004; 14: 423-5.
- 4. Harper JI. Tuberous sclerosis complex. In: Champion RH, Burton JL, Burns DA, Breathnanh SM eds. Textbook of Dermatology. 6th ed. United Kingdom: Blackwell Science 1998:384-8.
Abstract
Tuberous sclerosis (TS) is an autosomal dominant disorder
characterized mainly by mental retardation, epilepsy and adenoma sebasemia
triad. All triads can be detected in only one third of the patients. Tuberous
sclerosis complex (TSC) is a hamartomatosis that mainly carries the central
nervous system, skin, retina, kidney and heart. Pathologies associated with
renal involvement in patients with tuberous sclerosis; angiomyolipomas
(70-80%), renal cysts (20%) and very rarely cancers. The most common neurological
finding is epileptic seizures In this article, we present a case report of a patient who applied
to dermatological clinic with acne compleints and diagnosed as a tuberous
sclerosis complex with skin findings, cortical tuber and angiomyolipoma in
addition to radiological examinations.
Keywords
References
- 1. Rosser T, Panigrahy A, McClintock W. The diverse clinical manifestations of tuberous sclerosis complex: a review. Semin Pediatr Neurol. 2006;13: 27-36.
- 2. Morris BS, Garg A, Jadhav PJ. Tuberous sclerosis: A presentation of less-commonly encountered stigmata. Austral Radiol. 2002; 46: 426-30.
- 3. Patel SB, Shah SS, Goswami K, Shah N, Pandhi S. Case report: Tuberous sclerosisit’s varied presentation. Ind J Radiol Imag. 2004; 14: 423-5.
- 4. Harper JI. Tuberous sclerosis complex. In: Champion RH, Burton JL, Burns DA, Breathnanh SM eds. Textbook of Dermatology. 6th ed. United Kingdom: Blackwell Science 1998:384-8.
Details
| Primary Language | English |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | April 30, 2018 |
| Published in Issue | Year 2018 Volume: 2 Issue: 1 |