Malignant and Pre-Malignant Manifestations of Xeroderma Pigmentosum in Ghanaians


Introduction: Xeroderma pigmentosum is an autosomal recessive disease with sun sensitivity, photophobia, early onset of freckling, and subsequent neoplastic changes on sun-exposed surfaces. There is cellular hypersensitivity to UV radiation and to certain chemicals in association with abnormal DNA repair. Patients with defective DNA nucleotide excision repair (NER) have defects in one of seven NER genes; xeroderma pigmentosum variants have normal NER and a defect in a polymerase gene. Study design: This is a case presentation of five patients with the features of xeroderma pigmentosum, aged 48, 26, 15, 14 and 8 years. The first and last patients were males. Each of the first four patients presented with areas of hyper- and hypo-pigmentation over sun exposed body surfaces. Each of them had a minimum of two cutaneous malignancies, distributed on the upper chest, face or scalp. The fifth patient had skin atrophy, with mottled hyperpigmentation and hypopigmentation but had no malignant lesions. Result: The first, second and fourth patients had their lesions surgically excised and the defects were skin grafted. The third patient was treated with radiotherapy. All the lesions were confirmed histologically as squamous cell carcinoma. No recurrence has been observed. Conclusion: Xeroderma pigmentosum in Ghanaians presents with squamous cell carcinoma involving the head, neck and upper trunk. A minimum period of exposure to UV radiation, not precisely known, is required for the development of the lesions. Education on sun avoidance and protective clothing is necessary to prevent morbidity and mortality.

Share and Cite:

Adu, E. (2016) Malignant and Pre-Malignant Manifestations of Xeroderma Pigmentosum in Ghanaians. Journal of Biosciences and Medicines, 4, 28-32. doi: 10.4236/jbm.2016.43005.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] Kraemer, K.H. and Sarasin, A. (2006) Xerderma Pigmentosum. In: Le Boit, P.E., Burg, G., Weedon, D. and Sarasain, A., Eds., World Health Organization Classification of Tumours. Pathology and Genetics of Skin Tumours, IARC Press, Lyon, 282-284.
[2] Bootsma, D., Kraemer, K.H., Cleaver, J.E. and Hoeijmakers, J.H.J. (2002) Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystophy. In: Vogelstein, B., Kinzler, K.W., Eds., The Genetic Basis of Human Cancer, McGraw Hill, New York, 211-237.
[3] Van Steeg, H. and Kraemer, K.H. (1999) Xeroderma Pigmentosum and the Role of UV Induced DNA Damage in Skin Cancer. Molecular Medicine Today, 5, 86-94.
[4] Lehmann, A.R., McGibbon, D. and Stefanini, M. (2011) Xeroderma Pigmentosum. Orphanet Journal of Rare Diseases, 1, 70.
[5] Warrick, E., Garcia, M., Chagnoleau, C., Chevalier, O., Bergoglio, V., Sartori, D., et al. (2011) Preclinical Corrective Gene Transfer in Xeroderma Pigmentosum Human Skin Stem Cells. Mol Ther, 8.
[6] Gratchev, A., Strein, P., Utikal, J. and Sergij, G. (2003) Molecular Genetics of Xeroderma Pigmentosum Variant. Exp Dermatol, 12, 529-536.
[7] Naylor, M.F. and Farmer, K.C. (1997) The Case for Sunscreens. A Review of Their Use in Preventing Actinic Damage and Neoplasia. Arch Dermtol, 133, 1146-1154.

Copyright © 2023 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.