Skip to main content

Photosensitivity, Lipodystrophy, Mental Retardation and Joint Contractures

  • Chapter
  • First Online:
Challenging Cases in Dermatology
  • 320 Accesses

Abstract

A 4-year-old male presented with the following symptoms that started at the age of 2 years:

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 329.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Bibliography

  • Bertola DR, Cao H, Albano LM, et al. Cockayne syndrome type a: novel mutations in eight typical patients. J Hum Genet. 2006;51:701–5.

    Article  PubMed  CAS  Google Scholar 

  • Chien YH, Chou HC, Hwu WL. Cockayne syndrome in a family. Acta Paediatr Taiwan. 2002;43(1):46–9.

    PubMed  Google Scholar 

  • Cleaver JE, Volpe JP, Charles WC, et al. Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome. Prenat Diagn. 1994;14:921–8.

    Article  PubMed  CAS  Google Scholar 

  • Falik-Zaccai TC, Laskar M, Kfir N, et al. Cockayne syndrome type II in a Druze isolate in northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet. 2008;146A:1423–9.

    Article  PubMed  CAS  Google Scholar 

  • Greenhaw GA, Hebert A, Duke-Woodside ME, et al. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet. 1992;50(4):677–89.

    PubMed  CAS  Google Scholar 

  • 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;82:555–64.

    Article  PubMed  CAS  Google Scholar 

  • Horibata K, Iwamoto Y, Kuraoka I, et al. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci USA. 2004;101:15410–5.

    Article  PubMed  CAS  Google Scholar 

  • Laugel V, Dalloz C, Durand M, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010;31(2):113–26.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann AR, Francis AJ, Giannelli F. Prenatal diagnosis of Cockayne’s syndrome. Lancet. 1985;1:486–8.

    Article  PubMed  CAS  Google Scholar 

  • Lehmann AR, Thompson AF, Harcourt SA, et al. Cockayne’s syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV-irradiation. J Med Genet. 1993;30:679–82.

    Article  PubMed  CAS  Google Scholar 

  • Lieberman WJ, Schimek RA, Snyder CH. Cockayne’s Disease. A report of a case. Am J Ophthalmol. 1961;52:116–8.

    PubMed  CAS  Google Scholar 

  • Macdonald WB, Fitch KD, Lewis IC. Cockayne’s syndrome. A heredo-familial disorder of growth and development. Pediatrics. 1960;25:997–1007.

    PubMed  CAS  Google Scholar 

  • Mayne LV, Lehmann AR. Failure of RNA synthesis to recover after UV-irradiation: an early defect in cells from individuals with Cockayne’s syndrome and xeroderma pigmentosum. Cancer Res. 1982;42:1473–8.

    PubMed  CAS  Google Scholar 

  • Mayne LV, Lehmann AR, Waters R. Excision repair in Cockayne syndrome. Mutat Res. 1982;106:179–89.

    Article  PubMed  CAS  Google Scholar 

  • Miyauchi H, Horio T, Akaeda T, et al. Cockayne syndrome in two adult siblings. J Am Acad Dermatol. 1994;30:329–35.

    Article  PubMed  CAS  Google Scholar 

  • Moyer DB, Marquis P, Shertzer ME, Burton BK. Cockayne syndrome with early onset of manifestations. Am J Med Genet. 1982;13(2):225–30.

    Article  PubMed  CAS  Google Scholar 

  • Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992;42:68–84.

    Article  PubMed  CAS  Google Scholar 

  • Rainbow AJ, Howes M. A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne’s syndrome. Mutat Res. 1982;93:235–47.

    Article  PubMed  CAS  Google Scholar 

  • Riggs W, Seibert J. Cockayne’s syndrome: roentgen findings. Am J Roentgenol. 1972;116:623–33.

    Article  Google Scholar 

  • Schönenberg H, Frohn K. Das Cockayne-Syndrom. Monatsschr Kinderheilk. 1969;117:103–8.

    Google Scholar 

  • Spivak G. The many faces of Cockayne syndrome. Proc Natl Acad Sci USA. 2004;101:15273–4.

    Article  PubMed  CAS  Google Scholar 

  • Stefanini M, Fawcett H, Botta E, et al. Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet. 1996;97:418–23.

    Article  PubMed  CAS  Google Scholar 

  • Tan WH, Baris H, Robson CD, Kimonis VE. Cockayne syndrome: the developing phenotype. Am J Med Genet A. 2005;135(2):214–6.

    PubMed  Google Scholar 

  • Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol. 1992;114(5):579–83.

    PubMed  CAS  Google Scholar 

  • Venema J, Mullenders LH, Natarajan AT, et al. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA. 1990;87:4707–11.

    Article  PubMed  CAS  Google Scholar 

  • Yatani R, Kusano I, Shiraishi T, et al. DNA synthesis and hypersensitivity to ultraviolet radiation in Cockayne’s syndrome. Exp Mol Pathol. 1982;36:361–72.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer-Verlag London

About this chapter

Cite this chapter

El-Darouti, M.A. (2013). Photosensitivity, Lipodystrophy, Mental Retardation and Joint Contractures. In: Challenging Cases in Dermatology. Springer, London. https://doi.org/10.1007/978-1-4471-4249-2_7

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-4249-2_7

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-4248-5

  • Online ISBN: 978-1-4471-4249-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics