Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Cockayne Syndrome Workup

  • Author: Suguru Imaeda, MD; Chief Editor: William D James, MD  more...
 
Updated: Feb 28, 2014
 

Laboratory Studies

In Cockayne syndrome patients, UV-irradiated cells show decreased DNA and RNA synthesis.

Laboratory studies are mainly useful to eliminate other disorders. For example, skeletal radiography, endocrinologic tests, and chromosomal breakage studies can help in excluding disorders included in the differential diagnosis.

Next

Imaging Studies

Brain CT scanning in Cockayne syndrome patients may reveal calcifications and cortical atrophy.[15]

Previous
Next

Other Tests

Prenatal evaluation is possible. Amniotic fluid cell culturing is used to demonstrate that fetal cells are deficient in RNA synthesis after UV irradiation.

Previous
 
 
Contributor Information and Disclosures
Author

Suguru Imaeda, MD Chief of Dermatology, Yale University Health Services; Chief of Dermatology, Veterans Affairs Connecticut Healthcare System; Assistant Professor, Department of Dermatology, Yale University School of Medicine

Suguru Imaeda, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Connecticut State Medical Society, Sigma Xi, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

References
  1. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936. 11:1-8.

  2. Natale V. A comprehensive description of the severity groups in Cockayne syndrome. Am J Med Genet A. 2011 May. 155A(5):1081-95. [Medline].

  3. Chu G, Mayne L. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases?. Trends Genet. 1996 May. 12(5):187-92. [Medline].

  4. Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 Apr 14. 145(4):1388-96. [Medline]. [Full Text].

  5. Ridley AJ, Colley J, Wynford-Thomas D, Jones CJ. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. J Hum Genet. 2005. 50(3):151-4. [Medline].

  6. Hayashi M, Miwa-Saito N, Tanuma N, Kubota M. Brain vascular changes in Cockayne syndrome. Neuropathology. 2011 Jul 12. [Medline].

  7. Henning KA, Li L, Iyer N, et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell. 1995 Aug 25. 82(4):555-64. [Medline].

  8. Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev. 2013 May-Jun. 134(5-6):161-70. [Medline].

  9. Kleppa L, Kanavin OJ, Klungland A, Stromme P. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. 2007 Apr 14. 145(4):1397-406. [Medline].

  10. Cleaver JE, Hefner E, Laposa RR, Karentz D, Marti T. Cockayne syndrome exhibits dysregulation of p21 and other gene products that may be independent of transcription-coupled repair. Neuroscience. 2007 Apr 14. 145(4):1300-8. [Medline].

  11. Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D. Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. JAMA Dermatol. 2013 Dec. 149(12):1414-8. [Medline].

  12. Bhojwani R, Lloyd IC, Alam S, Ashworth J. Blepharokeratoconjunctivitis in Cockayne syndrome. J Pediatr Ophthalmol Strabismus. 2009 May-Jun. 46(3):184-5. [Medline].

  13. Christiansen M, Thorslund T, Jochimsen B, Bohr VA, Stevnsner T. The Cockayne syndrome group B protein is a functional dimer. FEBS J. 2005 Sep. 272(17):4306-14. [Medline].

  14. Nardo T, Oneda R, Spivak G, et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14. 106(15):6209-14. [Medline]. [Full Text].

  15. Tan WH, Baris H, Robson CD, Kimonis VE. Cockayne syndrome: the developing phenotype. Am J Med Genet A. 2005 Jun 1. 135(2):214-6. [Medline].

  16. Morris DP, Alian W, Maessen H, et al. Cochlear implantation in Cockayne syndrome: our experience of two cases with different outcomes. Laryngoscope. 2007 May. 117(5):939-43. [Medline].

  17. Wooldridge WJ, Dearlove OR, Khan AA. Anaesthesia for Cockayne syndrome. Three case reports. Anaesthesia. 1996 May. 51(5):478-81. [Medline].

  18. Yuen MK, Rodrigo MR, Law Min JC, Tong CK. Myocardial ischemia and delayed recovery after anesthesia in a patient with Cockayne syndrome: a case report. J Oral Maxillofac Surg. 2001 Dec. 59(12):1488-91. [Medline].

  19. Raghavendran S, Brown KA, Buu N. Perioperative management of patients with Cockayne syndrome - recognition of accelerated aging with growth arrest. Paediatr Anaesth. 2008 Apr. 18(4):360-1. [Medline].

  20. Hurwitz S. Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence. 2nd ed. Philadelphia, Pa: WB Saunders; 1993. 96.

  21. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992 Jan 1. 42(1):68-84. [Medline].

  22. Ozdirim E, Topcu M, Ozon A, Cila A. Cockayne syndrome: review of 25 cases. Pediatr Neurol. 1996 Nov. 15(4):312-6. [Medline].

  23. Spitz JL. Genodermatoses. Baltimore, Md: Williams & Wilkins; 1996. Vol 1: 208-9.

  24. Sybert VP. Genetic Skin Disorders. 1st ed. New York, NY: Oxford University Press; 1997. Vol 1: 559-61.

Previous
Next
 
Autosomal recessive inheritance pattern.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.