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Rothmund Thomson Sendromu

Year 2017, Volume: 2 Issue: 2, 48 - 53, 23.08.2017

Abstract

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.

References

  • •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
  • •4- Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE: Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 2001, 102:11-17.
  • • 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
  • •6- Nathanson M, Dandine M, Gaudelus J, Mousset S, Lasry D, Perelman R: Rothmund-Thomson syndrome with glaucoma. Ann Pediatr (Paris) 30:520-525
  • •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
  • • 9-Grant SG, Wenger SL, Latimer JJ, Thull D, Burke LW: Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome. Clin Genet 2000, 58:209-215
  • • 10-Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y: Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999, 22:82-84.
Year 2017, Volume: 2 Issue: 2, 48 - 53, 23.08.2017

Abstract

References

  • •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
  • •4- Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE: Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 2001, 102:11-17.
  • • 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
  • •6- Nathanson M, Dandine M, Gaudelus J, Mousset S, Lasry D, Perelman R: Rothmund-Thomson syndrome with glaucoma. Ann Pediatr (Paris) 30:520-525
  • •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
  • • 9-Grant SG, Wenger SL, Latimer JJ, Thull D, Burke LW: Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome. Clin Genet 2000, 58:209-215
  • • 10-Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y: Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999, 22:82-84.
There are 10 citations in total.

Details

Journal Section Makale
Authors

ALİ İHSAN Güleç

ÖMER FARUK Elmas

HANDAN Bilen

MAHMUT SAMİ Metin

Publication Date August 23, 2017
Acceptance Date July 19, 2017
Published in Issue Year 2017 Volume: 2 Issue: 2

Cite

Vancouver Güleç Aİ, Elmas ÖF, Bilen H, Metin MS. Rothmund Thomson Sendromu. JAMER. 2017;2(2):48-53.