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.
Cite this paper
Adu, E. (2016) Malignant and Pre-Malignant Manifestations of Xeroderma Pigmentosum in Ghanaians. Journal of Biosciences and Medicines
, 28-32. doi: 10.4236/jbm.2016.43005
 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.
 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.
 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. http://dx.doi.org/10.1016/S1357-4310(98)01394-X
 Lehmann, A.R., McGibbon, D. and Stefanini, M. (2011) Xeroderma Pigmentosum. Orphanet Journal of Rare Diseases, 1, 70. http://dx.doi.org/10.1186/1750-1172-6-70
 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.
 Gratchev, A., Strein, P., Utikal, J. and Sergij, G. (2003) Molecular Genetics of Xeroderma Pigmentosum Variant. Exp Dermatol, 12, 529-536.
 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. http://dx.doi.org/10.1001/archderm.1997.03890450096012