A case report of cockayne syndrome- five cases in a single family

Pooja Kondadi, Siddalingappa Karjigi, Kallappa C. Herakal, Sreelekha Challagundla


Photosensitive genodermatoses are a group of disorders presenting with photosensitivity, short stature, systemic manifestations and susceptibility to malignancy these include cockayne syndrome (CS), rothmund– thomson syndrome, Trichothiodystrophy, Xeroderma pigmentosum etc. CS is a rare disorder characterized by the presence of three cardinal signs growth retardation i.e. short stature, abnormal sensitivity to light (photosensitivity), prematurely aged appearance. A 12-year-old girl had photo sensitive rash over the face with short stature. Four of her cousins (two brothers and two sisters) also had similar features. Clinical and lab investigations were suggestive of CS. Early detection and differentiating the syndrome from other congenital disorder is essential as the prognosis of each disorder differs.


Cockayne syndrome, Photosensitivity, Congenital disorder

Full Text:



Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, et al. Incidence of DNA repair deficiency disorders in Western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repa (Amst). 2008;7:744-50.

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

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Huma Mutat. 2010;31(2):113-26.

Moriwaki S. Hereditary disorders with defective repair of UV-induced DNA damage. Jpn Clin Med 2013;4:29-35.

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

Weidenheim KM, Dickson DW, Rapin I. Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev. 2009;130:619-36.

Rapin I, Weidenheim K, Lindenbaum Y, Rosenbaum P, Merchant SN, Krishna S, et al. Cockayne syndrome in adults: Review with clinical and pathologic study of a new case. J Child Neurol. 2006;21:991-1006.

Koob M, Laugel V, Durand M, Fothergill H, Dalloz C, Sauvanaud F, et al. Neuroimaging in Cockayne syndrome. AJNR Am J Neuroradiol. 2010;31: 1623-30.

Gandolfi A, Horoupian D, Rapin I, DeTeresa R, Hyams V. Deafness in Cockayne's syndrome: Morphological, morphometric, and quantitative study of the auditory pathway. Ann Neurol. 1984; 15:135-43.

Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, et al. The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care. Genet Med. 2016;18:483-93.