TITLE:
Malignant and Pre-Malignant Manifestations of Xeroderma Pigmentosum in Ghanaians
AUTHORS:
Emmanuel J. K. Adu
KEYWORDS:
Xeroderma, Sun Sensitivity, Hypopigmentation, Macules, Freckling
JOURNAL NAME:
Journal of Biosciences and Medicines,
Vol.4 No.3,
March
17,
2016
ABSTRACT: 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.