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Cockayne Syndrome Clinical Presentation

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

History

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  • Patients with Cockayne syndrome usually appear normal at birth.
    • Eventually, they present with a typical facial appearance of a pinched, narrow face and a beaked nose.
    • Mental retardation, microcephaly, and growth failure become evident over time.
    • Photosensitivity and progressive worsening neurologic signs and symptoms of ataxia and quick jerky movements are also noted.
  • In Cockayne syndrome I, the phenotypic features of Cockayne syndrome may be subtle early in the disease course. The signs become evident later in the first decade of life.
  • In CS-II, severe developmental delays are evident in the immediate postnatal period, and characteristic facies may be present by age 2 years.
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Physical

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  • Appearance and habitus in Cockayne syndrome
    • Microcephaly, a thin nose, and large ears give the patient a Mickey Mouse appearance.
    • Patients may be cachectic.
  • Skin findings in Cockayne syndrome
    • Photosensitive eruption with erythema and scale may be observed.
    • Affected areas show hyperpigmentation, telangiectasia, and atrophy.
    • Subcutaneous lipoatrophy results in sunken eyes and an aged progeric appearance.
    • Cyanotic acral edema of the extremities[11]
    • Nail dystrophies and hair anomalies[11]
  • Musculoskeletal findings in Cockayne syndrome: Microcephaly, short stature, long limbs with joint contractures, large hands and feet, kyphosis, thickened calvariae, sclerotic epiphyses of the fingers, and osteoporosis may be observed.
  • Neurologic findings in Cockayne syndrome
    • Intracranial calcifications and diffuse demyelination of the central nervous system and the peripheral nerves result in progressive neurologic deterioration, such as ataxia, tremors, and cog wheeling.
    • Mental retardation may be noted.
    • Progressive sensorineural deafness may occur.
  • Ophthalmologic findings in Cockayne syndrome
    • Salt and pepper retinal pigment, miotic pupils, cataracts, optic atrophy, corneal opacity, and nystagmus may be observed.
    • Vision is preserved.
    • Blepharokeratoconjunctivitis has been reported.[12]
  • Dental findings in Cockayne syndrome: Caries may be present.
  • Endocrinologic findings in Cockayne syndrome
    • Hypogonadism occurs in 30% of males.
    • Irregular menses occur in females.
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Causes

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  • Cells with a defective DNA repair mechanism are sensitive to UV light.
  • Decreased DNA and RNA synthesis, increased sister chromatid exchanges, and increased chromosomal breaks may occur.
  • In Cockayne syndrome II, the defective CS group B protein, an SNF2-family DNA-dependent ATPase, is implicated in transcription elongation, transcription coupled repair, and DNA base excision repair.[13]
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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.

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Autosomal recessive inheritance pattern.
 
 
 
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