Yıl 2017, Cilt 2, Sayı 2, Sayfalar 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
  • •1- Rothmund A: Uber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration. Albrecht von Graefes Arch Klin Exp Ophthal 1868, 14:159-182.
  • •2- Vennos EM, Collins M, James WD: Rothmund-Thomson syndrome: review of the world literature. J Am Acad Dermatol 1992, 27:750-762
  • •3- Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010 Jan 29;5:2
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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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  • •7- Blaustein HS, Stevens AW, Stevens PD, Grossman ME: Rothmund-Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report. Pediatr Dermatol 1993, 10(2):159-63.
  • • 8-Porter WM, Hardman CM, Abdalla SH, Powles AV: Haematological disease in siblings with Rothmund-Thomson syndrome. Clin Dermatol 1999, 24:452-454
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Konular
Dergi Bölümü Makale
Yazarlar

Yazar: ALİ İHSAN GÜLEÇ
Ülke: Turkey


Yazar: ÖMER FARUK ELMAS
Kurum: KARS HARAKANİ DEVLET HASTANESİ
Ülke: Turkey


Yazar: HANDAN BİLEN
Kurum: ATATÜRK ÜNİVERSİTESİ, TIP FAKÜLTESİ
Ülke: Turkey


Yazar: MAHMUT SAMİ METİN
Kurum: Medikal Park Batman Hastanesi
Ülke: Turkey


Bibtex @olgu sunumu { 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.gov.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.gov.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 (Ağustos 2017): 48-53.