Year 2017, Volume 2, Issue 2, Pages 48 - 53 2017-08-23

Rothmund Thomson Sendromu

ALİ İHSAN GÜLEÇ [1] , ÖMER FARUK ELMAS [2] , HANDAN BİLEN [3] , MAHMUT SAMİ METİN [4]

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Poikiloderma konjenitale olarak da bilinen Rothmund Thomson sendromu, infantil dönemde ortaya çıkan poikiloderma ile karakterize, otozomal resesif geçişli, nadir görülen bir sendromdur. Göz ve iskelet sistemi patolojilerinin de eşlik edebildiği hastalıkta mezenkimal malignite gelişme riski artmıştır. 6 yaşında kız çocuğu, yüzde ve gövdede poikiloderma (atrofi, hipopigmentasyon, hiperpigmentasyon, telenjiektazi), fotosensitivite, her iki plantar bölgede hiperkeratoz ve tırnak distrofisi ile başvurdu. Klinik olarak Rothmund Thomson sendromu tanısı konulan hastaya güneşten korunma ve topikal tedavi önerilerinde bulunuldu. Antitenin nadir görülmesi nedeniyle olgumuzu sunuyoruz.

infant, poikiloderma konjenitale
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  • • 5-Beghini A, Castorina P, Roversi G, Modiano P, Larizza L: RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. Am J Med Genet A 2003, 120A:395-3999
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Journal Section Makale
Authors

Author: ALİ İHSAN GÜLEÇ
Country: Turkey


Author: ÖMER FARUK ELMAS
Institution: KARS HARAKANİ DEVLET HASTANESİ
Country: Turkey


Author: HANDAN BİLEN
Institution: ATATÜRK ÜNİVERSİTESİ, TIP FAKÜLTESİ
Country: Turkey


Author: MAHMUT SAMİ METİN
Institution: Medikal Park Batman Hastanesi
Country: Turkey


Dates

Publication Date: August 23, 2017

Bibtex @case report { jamer318251, journal = {Journal of Anatolian Medical Research}, issn = {}, eissn = {2587-1153}, address = {Kayseri EAH}, year = {2017}, volume = {2}, pages = {48 - 53}, doi = {}, title = {Rothmund Thomson Sendromu}, key = {cite}, author = {GÜLEÇ, ALİ İHSAN and ELMAS, ÖMER FARUK and BİLEN, HANDAN and METİN, MAHMUT SAMİ} }
APA GÜLEÇ, A , ELMAS, Ö , BİLEN, H , METİN, M . (2017). Rothmund Thomson Sendromu. Journal of Anatolian Medical Research, 2 (2), 48-53. Retrieved from http://dergipark.org.tr/jamer/issue/31007/318251
MLA GÜLEÇ, A , ELMAS, Ö , BİLEN, H , METİN, M . "Rothmund Thomson Sendromu". Journal of Anatolian Medical Research 2 (2017): 48-53 <http://dergipark.org.tr/jamer/issue/31007/318251>
Chicago GÜLEÇ, A , ELMAS, Ö , BİLEN, H , METİN, M . "Rothmund Thomson Sendromu". Journal of Anatolian Medical Research 2 (2017): 48-53
RIS TY - JOUR T1 - Rothmund Thomson Sendromu AU - ALİ İHSAN GÜLEÇ , ÖMER FARUK ELMAS , HANDAN BİLEN , MAHMUT SAMİ METİN Y1 - 2017 PY - 2017 N1 - DO - T2 - Journal of Anatolian Medical Research JF - Journal JO - JOR SP - 48 EP - 53 VL - 2 IS - 2 SN - -2587-1153 M3 - UR - Y2 - 2017 ER -
EndNote %0 Journal of Anatolian Medical Research Rothmund Thomson Sendromu %A ALİ İHSAN GÜLEÇ , ÖMER FARUK ELMAS , HANDAN BİLEN , MAHMUT SAMİ METİN %T Rothmund Thomson Sendromu %D 2017 %J Journal of Anatolian Medical Research %P -2587-1153 %V 2 %N 2 %R %U
ISNAD GÜLEÇ, ALİ İHSAN , ELMAS, ÖMER FARUK , BİLEN, HANDAN , METİN, MAHMUT SAMİ . "Rothmund Thomson Sendromu". Journal of Anatolian Medical Research 2 / 2 (August 2017): 48-53.
AMA GÜLEÇ A , ELMAS Ö , BİLEN H , METİN M . Rothmund Thomson Sendromu. Journal of Anatolian Medical Research. 2017; 2(2): 48-53.
Vancouver GÜLEÇ A , ELMAS Ö , BİLEN H , METİN M . Rothmund Thomson Sendromu. Journal of Anatolian Medical Research. 2017; 2(2): 53-48.