Öz
Tuberosclerosis (TS) is an autosomal dominant neuro­cutaneous disease characterized with the triad of mental retardation, epilepsy and adenoma sebaceum. The most common affected organs are skin, brain, heart, eyes and kidneys whereas all organs can be involved. A 40-year-old male patient admitted to our clinic with a complaint of acrochordons in his neck and diagnosed with tuberos­clerosis. The dermatologic signs of this rare disease are presented and discussed with recent literature. J Clin Exp Invest 2013; 4 (1): 130-133
Anahtar Kelimeler
Kaynakça
- Harabayashi T, Shinohara N, Katano H, et al. Manage- ment of renal angiomyolipomas associated with tuber- ous sclerosis complex. J Urol 2004;171:102-105.
- Harper JI, Trembath RC. Genetics and genodermato- ses. Rook’ s Textbook of Dermatology’ de. Ed. Burns T, Berathnach S, Cox N, Griffiths C. Oxford, Blackwell Publishing 2004;12:1-12.
- Roach ES, Smith M, Huttenlocher P et al. Report of the diagnostic criteria committee of the National Tuberous Sclerosis Association. J Child Neurol 1992;7:221-224.
- Paller AS, Goldsmith LA. Tuberous sclerosus complex. Fitzpatrick’s Dermatology of General Medicine’ de. Ed. Freedberg IM, Eisen AZ, Wolff KK ve ark. New York, McGraw-Hill, 2003;1822-1825.
- Rosser T, Panigrahy A, McClintock W. The diverse clin- ical manifestations of tuberous sclerosis complex: a review. Semin Pediatr Neurol 2006;13:27-36.
- Morris BS, Garg A, Jadhav PJ. Tuberous sclerosis: A presentation of less-commonly encountered stigmata. Austral Radiol 2002;46:426-430.
- Devlin LA, Shepherd CH, Crawford H, et al. Tuberous sclerosis complex: clinical features, diagnosis,and prevalence within Northern Ireland. Dev Med Child Neurol 2006;48:495-499.
Öz
Tuberoskleroz (TS), otozomal dominant geçişli başlıca mental retardasyon, epilepsi ve adenoma sebaseum tri­adı ile karakterize bir nörokutan hastalıktır. En sık deri, beyin, kalp, göz ve böbrekleri tutmakla beraber tüm or­ganları etkileyebilmektedir. Boyun bölgesindeki akrokor­donlar nedeniyle kliniğimize başvuran 40 yaşındaki erkek hastaya tuberoskleroz tanısı konmuş olup nadir görülen bu hastalıktaki dermatolojik bulgular sunulmuş ve güncel literatür eşliğinde tartışılmıştır.
Anahtar Kelimeler
Kaynakça
- Harabayashi T, Shinohara N, Katano H, et al. Manage- ment of renal angiomyolipomas associated with tuber- ous sclerosis complex. J Urol 2004;171:102-105.
- Harper JI, Trembath RC. Genetics and genodermato- ses. Rook’ s Textbook of Dermatology’ de. Ed. Burns T, Berathnach S, Cox N, Griffiths C. Oxford, Blackwell Publishing 2004;12:1-12.
- Roach ES, Smith M, Huttenlocher P et al. Report of the diagnostic criteria committee of the National Tuberous Sclerosis Association. J Child Neurol 1992;7:221-224.
- Paller AS, Goldsmith LA. Tuberous sclerosus complex. Fitzpatrick’s Dermatology of General Medicine’ de. Ed. Freedberg IM, Eisen AZ, Wolff KK ve ark. New York, McGraw-Hill, 2003;1822-1825.
- Rosser T, Panigrahy A, McClintock W. The diverse clin- ical manifestations of tuberous sclerosis complex: a review. Semin Pediatr Neurol 2006;13:27-36.
- Morris BS, Garg A, Jadhav PJ. Tuberous sclerosis: A presentation of less-commonly encountered stigmata. Austral Radiol 2002;46:426-430.
- Devlin LA, Shepherd CH, Crawford H, et al. Tuberous sclerosis complex: clinical features, diagnosis,and prevalence within Northern Ireland. Dev Med Child Neurol 2006;48:495-499.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Mart 2013 |
| Yayımlandığı Sayı | Yıl 2013 Cilt: 4 Sayı: 1 |