Rothmund-Thomson Syndrome Medication

  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 11, 2011
 

Medication Summary

The goals of pharmacotherapy for Rothmund-Thomson syndrome (poikiloderma congenitale) are to reduce morbidity and to prevent complications.

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Retinoids

Class Summary

These agents decrease the cohesiveness of abnormal hyperproliferative keratinocytes, and they may reduce the potential for malignant degeneration. They also modulate keratinocyte differentiation.

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Isotretinoin (Accutane)

 

Synthetic 13-cis isomer of the naturally occurring tretinoin (trans -retinoic acid). Approved for use in severe recalcitrant nodular acne. Recent review by Allison et al revealed clearing in 5 of 6 pediatric patients with pityriasis rubra pilaris within 6 mo.

A US Food and Drug Administration–mandated registry is now in place for all individuals prescribing, dispensing, or taking isotretinoin. For more information on this registry, see iPLEDGE. This registry aims to further decrease the risk of pregnancy and other unwanted and potentially dangerous adverse effects during a course of isotretinoin therapy.

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Tretinoin topical (Avita, Retin-A)

 

Inhibits microcomedo formation and eliminates lesions. Makes keratinocytes in sebaceous follicles less adherent and easier to remove. Available as 0.025%, 0.05%, and 0.1% creams. Also available as 0.01% and 0.025% gels.

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Acitretin (Soriatane)

 

Metabolite of etretinate and related to both retinoic acid and retinol (vitamin A). Mechanism of action unknown. However, thought to exert therapeutic effect by modulating keratinocyte differentiation, keratinocyte hyperproliferation, and tissue infiltration by inflammatory cells. Approved for treatment of severe psoriasis.

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Keratolytic

Class Summary

This agent causes cornified epithelium to swell, soften, macerate, and then desquamate.

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Salicylic acid topical (Dr. Scholl's)

 

By dissolving the intercellular cement substance, salicylic acid produces desquamation of the horny layer of skin, while not affecting the structure of viable epidermis.

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Contributor Information and Disclosures
Author

Sylvia Hsu, MD  Professor, Department of Dermatology, Baylor College of Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Saira J George, MD  Staff Dermatologist, Dermatological Association of Texas

Saira J George, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Bernice R Krafchik, MBChB, FRCPC  Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto

Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD  Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Kitao S, Shimamoto A, Goto M, et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. May 1999;22(1):82-4. [Medline].

  2. Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A. Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics. Nov 1 1999;61(3):268-76. [Medline].

  3. Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett. Jan 28 2006;232(1):107-20. [Medline].

  4. Leonard A, Craft AW, Moss C, Malcolm AJ. Osteogenic sarcoma in the Rothmund-Thomson syndrome. Med Pediatr Oncol. Apr 1996;26(4):249-53. [Medline].

  5. Wang LL, Gannavarapu A, Kozinetz CA, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. May 7 2003;95(9):669-74. [Medline].

  6. Popadic S, Nikolic M, Gajic-Veljic M, Bonaci-Nikolic B. Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. Acta Dermatovenerol Alp Panonica Adriat. Jun 2006;15(2):90-3. [Medline].

  7. Otsu U, Moriwaki S, Iki M, Nozaki K, Horiguchi Y, Kiyokane K. Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?. Eur J Dermatol. Nov-Dec 2008;18(6):632-4. [Medline].

  8. Macris MA, Krejci L, Bussen W, Shimamoto A, Sung P. Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. DNA Repair (Amst). Feb 3 2006;5(2):172-80. [Medline].

  9. Werner SR, Prahalad AK, Yang J, Hock JM. RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. Biochem Biophys Res Commun. Jun 23 2006;345(1):403-9. [Medline].

  10. Woo LL, Futami K, Shimamoto A, Furuichi Y, Frank KM. The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. Exp Cell Res. Oct 15 2006;312(17):3443-57. [Medline].

  11. Dietschy T, Shevelev I, Pena-Diaz J, et al. p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. J Cell Sci. Apr 15 2009;122:1258-67. [Medline].

  12. Maire G, Yoshimoto M, Chilton-MacNeill S, Thorner PS, Zielenska M, Squire JA. Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma. Neoplasia. Mar 2009;11(3):260-8, 3p following 268. [Medline].

  13. Wu J, Capp C, Feng L, Hsieh TS. Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. Dev Biol. Nov 1 2008;323(1):130-42. [Medline].

  14. Prendiville JS, Fine JD, Esterly NB. Kindler syndrome and epidermolysis bullosa simplex. J Am Acad Dermatol. Aug 1990;23(2 Pt 1):327-8. [Medline].

  15. Geronemus RG. Treatment of the cutaneous vascular component of the Rothmund-Thomson syndrome. Pediatr Dermatol. Mar-Apr 1996;13(2):175. [Medline].

  16. Piquero-Casals J, Okubo AY, Nico MM. Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. Pediatr Dermatol. Jul-Aug 2002;19(4):312-6. [Medline].

  17. Howell SM, Bray DW. Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. Arch Dermatol. Mar 2008;144(3):416-7. [Medline].

  18. Broom MA, Wang LL, Otta SK, et al. Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. Clin Genet. Apr 2006;69(4):337-43. [Medline].

  19. Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID. Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans. Dec 2005;33:1456-9. [Medline].

  20. Houwing RH, Oosterkamp RF, Berghuis M, Beemer FA, Van Vloten WA. Rothmund-Thomson syndrome. Br J Dermatol. Sep 1991;125(3):279-80. [Medline].

  21. Knoell KA, Sidhu-Malik NK, Malik RK. Aplastic anemia in a patient with Rothmund-Thomson syndrome. J Pediatr Hematol Oncol. Sep-Oct 1999;21(5):444-6. [Medline].

  22. Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol. Aug 2008;191(2):W62-6. [Medline].

  23. Moss C. Duplicate reporting of patients with Rothmund-Thomson syndrome. J Am Acad Dermatol. Oct 1989;21(4 Pt 1):815-6. [Medline].

  24. Moss C. Rothmund-Thomson syndrome: a report of two patients and a review of the literature. Br J Dermatol. Jun 1990;122(6):821-9. [Medline].

  25. Nanda A, Kanwar AJ, Kapoor MM, et al. Rothmund-Thomson syndrome in two siblings. Pediatr Dermatol. Dec 1989;6(4):325-8. [Medline].

  26. Narayan S, Fleming C, Trainer AH, Craig JA. Rothmund-Thomson syndrome with myelodysplasia. Pediatr Dermatol. May-Jun 2001;18(3):210-2. [Medline].

  27. Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M. Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. Pediatr Dermatol. Sep-Oct 2001;18(5):422-5. [Medline].

  28. Porter WM, Hardman CM, Abdalla SH, Powles AV. Haematological disease in siblings with Rothmund-Thomson syndrome. Clin Exp Dermatol. Nov 1999;24(6):452-4. [Medline].

  29. Roth DE, Campisano LC, Callen JP, Hersh JH, Yusk JW. Rothmund-Thomson syndrome: a case report. Pediatr Dermatol. Dec 1989;6(4):321-4. [Medline].

  30. Stinco G, Governatori G, Mattighello P, Patrone P. Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. J Dermatol. Mar 2008;35(3):154-61. [Medline].

  31. Uhring M, Poterszman A. [DNA helicases and human diseases]. Med Sci (Paris). Dec 2006;22(12):1087-94. [Medline].

  32. Vennos EM, Collins M, James WD. Rothmund-Thomson syndrome: review of the world literature. J Am Acad Dermatol. Nov 1992;27(5 Pt 1):750-62. [Medline].

  33. Wang LL, Levy ML, Lewis RA, et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. Jul 22 2001;102(1):11-7. [Medline].

 
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Note the poikiloderma and skeletal abnormalities.
Close-up of poikiloderma.
Close-up of poikiloderma.
 
 
 
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