Xeroderma Pigmentosum is an autosomal recessive disease with sun sensitivity,photphobia, early onset of freckling, and subsequentneoplastic changesin 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 genes. Xeroderma Pigmentosum variants have normal NER and a defect in 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 hypopigmentation and hyperpigmentation of 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 has skin atrophy, with mottled hypopigmentation and hyperpigmentation but had no malignant skin 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 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.